Publications

Erythromelalgia: Pathophysiology and Clinical Treatment Options, a Narrative Review.

Noble RK, Duplechin MO, Anwar AI , et al. · Current pain and headache reports · 2026

Erythromelalgia (EM) is an uncommon, multifaceted neurovascular pain disorder. The distal extremities are typically affected, with symptoms of overwhelming warmth, burning pain, and erythema. There is...

Identification of the SCN9A Variant c.647T>C (p. Phe216Ser) in a Patient With Primary Erythromelalgia.

Kida M, Ueda-Hayakawa I, Morisaka H , et al. · The Journal of dermatology · 2026

Association of erlotinib and acitretin for the treatment of Olmsted syndrome with erythromelalgia in a pediatric patient.

Azulay-Abulafia L, Rodrigues Fagundes J, Ollague Cordova EE , et al. · Anais brasileiros de dermatologia · 2026

Nationwide Survey of Atopic Myelitis and Plexin D1-Immunoglobulin G-Related Pain.

Kira JI, Zhang X, Fujii T , et al. · Annals of clinical and translational neurology · 2026

To elucidate the features of plexin D1-immunoglobulin (Ig)G-associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. A preliminary survey questionnaire...

Anhidrosis: An underappreciated factor in dermatologic diseases.

Lutz GF, Davis MDP, Sandroni P , et al. · Journal of the American Academy of Dermatology · 2026

Dissipation of body heat, essential to human life, is largely achieved through sweating. If sweating does not occur normally-as in patients with hypohidrosis (reduced sweating) or anhidrosis (lack of...

Erythromelalgia mimicking diabetic foot infection: diagnostic challenges and contraindication of ice application.

Chen S, Lai Y, Xia Y , et al. · Journal of medical case reports · 2026

Erythromelalgia (EM) is a neurovascular disorder with an estimated incidence of 0.25-2 cases per 100,000 people, characterized by episodic burning pain, erythema, and increased skin temperature, prima...

Remission of erythromelalgia after semaglutide initiation: A case report.

Laugsand SS, Wergeland T, Gulati S , et al. · JAAD case reports · 2026

Novel Use of a Topical JAK/STAT Inhibitor in the Management of Refractory Erythromelalgia: A Case Report.

Gershman A, Oliinyk Y, Burov E · International journal of dermatology · 2026

[A clinical case of erythromelalgia in a patient comorbid with antiphospholipid syndrome].

Kudrjavtseva AA, Meladze AV, Trapeznikova ES , et al. · Terapevticheskii arkhiv · 2026

The article presents a clinical case of secondary erythromelalgia in a comorbid patient with antiphospholipid syndrome, accompanied by burning pain, hyperemia and swelling of the lower extremities. A...

Genetic and Clinical Insights into Inherited Erythromelalgia: A Comprehensive Review of Cases from China and Worldwide.

Li Y, He Z, Liu Y , et al. · The Journal of investigative dermatology · 2026

Recent genomic research has identified variants in the SCN9A gene as a key factor in inherited erythromelalgia (IEM) pathogenesis. In this review, data are collected and analyzed to identify SCN9A seq...

Erythromelalgia: a cutaneous manifestation of polycythemia vera.

Saad M, Dazé R · Journal of osteopathic medicine · 2026

A case of auricular erythromelalgia following COVID-19 infection.

Yanagita Y, Uehara T, Kishimoto K , et al. · The American journal of medicine · 2026

Reflex Sympathetic Dystrophy-Like unilateral Erythema Caused by a Germline SCN9A Variant.

Nakato D, Komatsu R, Ono I , et al. · European journal of medical genetics · 2026

Reflex sympathetic dystrophy (RSD), currently categorized within the spectrum of complex regional pain syndrome (CRPS), is typically considered an acquired disorder characterized by disproportionate p...

Spontaneous activity in pain patient stem cell-derived sensory neurons arises from one functional subclass.

Eberhardt E, Namer B, Neureiter A , et al. · Pain · 2026

Spontaneous activity of peripheral sensory nerve fibers is one of the main drivers of neuropathic pain. It can be assessed in microneurography recordings of patients' C fibers and in patch-clamp recor...

Pseudoephedrine-Associated Erythromelalgia: A Case Report of a Rare Drug Reaction.

Wong LZ, Kravvas G · Case reports in dermatology · 2026

Erythromelalgia is a rare disorder characterized by severe burning extremity pain, erythema, and increased skin temperature. Symptoms are aggravated by warming and alleviated by cooling. It is known t...

Severe Cutaneous Alternaria Infection Secondary to Cooling Measures in Pediatric Erythromelalgia.

Cohen K, Oza V, Shust GF , et al. · Pediatric dermatology · 2026

Primary erythromelalgia (PEM) is a rare neuropathic pain disorder characterized by debilitating burning pain of the extremities relieved by cold exposure. We report a pediatric patient who developed s...

Nav1.8: Intrinsic limits on the functional effect of abrogation in DRG neurons.

Vasylyev DV, Zhao P, Schulman BR , et al. · Proceedings of the National Academy of Sciences of the United States of America · 2025

Voltage-gated sodium channel Nav1.8 plays a crucial role in regulating excitability of small dorsal root ganglion (DRG) neurons and is an emerging target for pain therapeutics. Using dynamic clamp, we...

[Hemichorea caused by polycythemia vera].

Sodemann NW, Brask-Thomsen PK, van Kooten Niekerk PB · Ugeskrift for laeger · 2025

Polycythaemia vera (PV) is a chronic myeloproliferative disorder. PV should be suspected with hemoglobin >10.2/9.9 mmol/L (m/f) and/or PV-related features (aquagenic pruritus, erythromelalgia, atypica...

Severe Erythromelalgia Pain Attack in a Young Lebanese Woman Leading to Hospitalization: A Case Report and Literature Review.

Assaad W, El Tarras O, Al Osta S , et al. · Cureus · 2025

Erythromelalgia is a rare neurovascular syndrome characterized by intense, episodic burning pain that primarily affects the feet and hands and, occasionally, the face. Symptoms are often triggered by...

Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review.

Ocay DD, Graziano Maloney M, D'Souza G , et al. · Pediatric research · 2025

Erythromelalgia is a rare, chronic pain disorder characterized by the triad of intense burning sensation, warmth, and redness, primarily involving the hands and feet, and usually alleviated by cold an...

Correction of sodium channel mutations in sensory neurons reverses aberrant properties.

Shim J, Tanaka B, Taub DG , et al. · Brain : a journal of neurology · 2025

Inherited erythromelalgia, small fibre neuropathy and paroxysmal extreme pain disorder are caused by gain-of-function mutations in the voltage-gated sodium channel Nav1.7. It remains unknown how diffe...

Painful diabetic neuropathy complicated with secondary erythromelalgia in polycythemia vera: A case report.

Zhang H, Qin Z, Feng X · The Journal of international medical research · 2025

This report describes the case of a 62-year-old woman with type 2 diabetes and painful diabetic peripheral neuropathy, who, despite standard treatment, experienced persistent symptoms. Further investi...

Patient-Oriented Priorities for Pediatric Erythromelalgia: A Priority-Setting Process.

Ocay DD, Halpin M, Ford E , et al. · Children (Basel, Switzerland) · 2025

: Erythromelalgia is a rare condition characterized by burning pain, redness, and warmth primarily in the extremities, usually worsened by heat and alleviated by cold. The objective of this study was...

Botulinum Toxin Type A in Red Ear Syndrome and a Novel Multi-nerve Injection Paradigm: A Case Report.

Clark MT, Meathrel KE · Cureus · 2025

Red ear syndrome (RES) is a rare, poorly understood disorder characterized by episodic ear erythema and pain. Its pathophysiology remains unclear, with proposed associations to migraine, erythromelalg...

Comparative Efficacy and Tolerability of Treatments for Erythromelalgia: A Systematic Review.

Algarni AS, Alharthi RM, Alqurashi SO , et al. · Medicina (Kaunas, Lithuania) · 2025

: Erythromelalgia (EM) is an uncommon condition marked by recurring redness, intense burning sensations, and elevated limb warmth. This syndrome can be significantly debilitating, and finding effectiv...

Screening of candidate analgesics using a patient-derived human iPSC model of nociception identifies putative compounds for therapeutic treatment.

Thornton JR, Capurro A, Harwood S , et al. · Clinical and translational medicine · 2025

In this study, we applied an induced pluripotent stem cell (iPSC)-based model of inherited erythromelalgia (IEM) to screen a library of 281 small molecules, aiming to identify candidate pain-modulatin...

Utilization of Propofol as an Analgesic Adjuvant in the Multimodal Management of Acute Erythromelalgia Secondary to Lyme Disease Neuropathy: A Case Report.

Parry SM, Brancolini SA, Bireley M , et al. · A&A practice · 2025

Pediatric neuropathic pain can be difficult to treat, may require a multimodal approach, and is often guided by adult literature given the paucity of pediatric studies. A healthy adolescent male prese...

The Cutaneous Pathology of Erythromelalgia and Its Role in Establishing Critical Clues Regarding Pathogenesis.

Magro C, Kalomeris T, Guo L · The American Journal of dermatopathology · 2025

Erythromelalgia, a rare cutaneous pain syndrome, is characterized by acral burning pain and flushing, often alleviated by cold and rest. Primary erythromelalgia is caused by gain-of-function mutations...

Genetic Variants in the SCN9A Gene are Detected in a Minority of Erythromelalgia Patients.

Skystad Kvernebo M, Grayson C, Stylianou IM , et al. · Acta dermato-venereologica · 2025

Gain-of-function variants in the voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, have previously been identified in patients with erythromelalgia, a clinical diagnosis defined by inter...

Diagnosis and Treatment of Polycythemia Vera: A Review.

Tremblay D, Kremyanskaya M, Mascarenhas J , et al. · JAMA · 2025

Polycythemia vera (PV), a myeloproliferative neoplasm characterized by an increased red blood cell mass and increased risk of thrombosis, affects approximately 65 000 people in the US, with an annual...

Erythromelalgia and the Association With Paraproteinemias: A Retrospective Case Series.

Burruss CP, Callen JP · International journal of dermatology · 2025

Primary Erythromelalgia: Historical Perspective and Current Update.

Eaton AC, Mayrovitz HN · Cureus · 2025

Erythromelalgia is a condition characterized by intense burning pain, redness, and heat in the extremities that has garnered increasing attention in recent years. This literature review provides a com...

Discovery of novel cyclopentane carboxylic acids as potent and selective inhibitors of Na1.7.

Sun S, Chowdhury S, Hemeon I , et al. · Bioorganic & medicinal chemistry letters · 2025

Discovery efforts leading to the identification of cyclopentane carboxylic acid 31, a potent inhibitor of Na1.7 that showed high selectivity over Na1.5 and exhibited robust analgesic effects in an inh...

Pediatric Essential Thrombocythemia: A Case of a JAK2-Mutated Adolescent With Microvascular Symptoms.

Fonseca M, Cristóvão Ferreira A, Amaro Gonçalves C , et al. · Cureus · 2025

Thrombocytosis, defined as platelet counts >450 × 10⁹/L, is frequent in the pediatric population and usually secondary to inflammatory conditions or iron deficiency. Essential thrombocythemia (ET), a...

Expanding the Phenotype Spectrum of β-Mannosidosis.

Martin Rios AM, Gibbs LH, Stepien KM , et al. · Neurology. Genetics · 2025

β-mannosidosis is an ultra-rare lysosomal storage disorder caused by a deficiency of β-mannosidase, which catalyzes the last step of glycoprotein degradation. Owing to the limited number of reported c...

Rapid clinical response to nemolizumab in dermatologic diseases associated with pruritus and burning: A multicenter case series.

Murase EM, Dulai AS, Marzouk S , et al. · Journal of the American Academy of Dermatology · 2025

Strategy for identification of characteristic components from multiphase of Sanwu Huangqin Decoction via UHPLC‒Q-TOF‒MS and UHPLC-QQQ-MS combined with multivariate statistical analysis.

Wang S, Wang T, He J , et al. · Journal of chromatography. A · 2025

Sanwu Huangqin Decoction (SHD), a classic prescription for nourishing yin and clearing heat, is commonly used to treat febrile diseases, erythromelalgia, autoimmune liver diseases, and skin diseases....

Mepyramine targets mutant Nav1.7 channels to relieve pain and erythema in primary erythromelalgia patients.

Ducrocq M, Penalba V, Castillo L , et al. · Frontiers in medicine · 2025

Gain-of-function mutations in , which encodes the Nav1.7 voltage-gated sodium channel, are known to cause primary erythromelalgia (PEM). This condition is characterized by recurrent episodes of erythe...

Erythromelalgia as a paraneoplastic manifestation of colon cancer: A case report.

Flores Robles BJ, López-Martín JA · Revista de gastroenterologia de Mexico (English) · 2025

Mimicking the Usual Suspects: Erythromelalgia in the Differential Diagnosis.

Hoxha D, Bayro Jablonski NE, Chatterjee A , et al. · Journal of Brown hospital medicine · 2025

Erythromelalgia is a rare condition characterized by severe paroxysmal pain in the extremities and erythema that leads to significant morbidity and incapacity. We report on the case of a female with a...

Enhanced trafficking of an inherited erythromelalgia Na1.7 mutant channel at a physiological temperature.

Mis MA, Tyagi S, Akin EJ , et al. · Neurobiology of pain (Cambridge, Mass.) · 2025

Gain-of-function mutations which enhance activation of Na1.7, a widely expressed sodium channel in nociceptors, cause human pain disorders including inherited erythromelalgia (IEM). IEM is characteriz...

Intravenous immunoglobulin therapy in erythromelalgia management: a case report.

Sousa RÁP, Vasconcelos LRS, Sá MVBO · Einstein (Sao Paulo, Brazil) · 2025

A 49-year-old woman presented with a 16-year history of burning pain, warmth, redness, and edema in both toes, feet, legs and calves. Despite extensive medical testing, including genetic analysis, no...

A Rare Case of Refractory Erythromelalgia Managed by Botulinum Toxin A.

Singh GK, Srivastava S, Das P , et al. · Indian dermatology online journal · 2025

Prevalence of erythromelalgia in the United States: a cross-sectional study using the All of Us database.

Sidiq SA, Asad U, Ren V · Archives of dermatological research · 2024

Erythromelalgia is a rare condition with no published estimates of prevalence from a diverse, nationwide cohort of American patients. We performed a cross-sectional analysis of the All of Us database...

Polycythemia Vera With High Serum Erythropoietin Level: A Case Report and Literature Review.

Alsayed A, Fadul A, Musa M , et al. · Cureus · 2024

Polycythemia vera (PV) is a primary acquired marrow condition that causes erythrocytosis. It may present with erythromelalgia, pruritus, splenomegaly, and thrombotic events. Secondary causes of polycy...

Hereditary cold-induced palmar erythema with dysesthesia: A novel entity with response to onabotulinumtoxinA injections.

Jung I, Kravitz S, Linabury J · JAAD case reports · 2024

Relapsing-Remitting Immunotherapy Responsive Small-Fiber Neuropathy: Longitudinal Tracking Through 10 Years Including Pregnancies.

Oaklander AL, Allen J, Dietliker N , et al. · Neurology(R) neuroimmunology & neuroinflammation · 2024

To expand understanding of the pathogenesis, presentations, and treatment of initially idiopathic small fiber polyneuropathy (SFN). We longitudinally readministered validated metrics to track disease...

Beyond visual inspection: The value of infrared thermography in skin diseases, a scoping review.

Speeckaert R, Hoorens I, Lambert J , et al. · Journal of the European Academy of Dermatology and Venereology : JEADV · 2024

Although warmth is a key sign of inflammatory skin lesions, an objective assessment and follow-up of the temperature changes are rarely done in dermatology. The recent availability of accurate, sensit...

Severe Pediatric Erythromelalgia: A Case Report on Multimodal Pain Management and the Role of Regional Anesthesia.

Zyani A, El Moutawakil El Alami M, Alkouh R , et al. · Cureus · 2024

Erythromelalgia is a rare neurovascular condition characterized by episodic burning pain, erythema, and increased temperature of the extremities. This condition, particularly challenging in pediatric...

Interplay of Nav1.8 and Nav1.7 channels drives neuronal hyperexcitability in neuropathic pain.

Vasylyev DV, Zhao P, Schulman BR , et al. · The Journal of general physiology · 2024

While voltage-gated sodium channels Nav1.7 and Nav1.8 both contribute to electrogenesis in dorsal root ganglion (DRG) neurons, details of their interactions have remained unexplored. Here, we studied...

Hyper-dilute botulinum toxin as an effective treatment for refractory erythromelalgia.

Brown A, AbdelHameid D, Nezafati K , et al. · JAAD case reports · 2024

Facial Erythromelalgia.

Kitamura W, Kuyama S · Internal medicine (Tokyo, Japan) · 2024

Painful Raynaud's mimics.

Zahn C, Puga C, Malik A , et al. · Best practice & research. Clinical rheumatology · 2024

Raynaud's syndrome is a common finding in many autoimmune conditions. Accurately diagnosing Raynaud's, and differentiating it from mimicking conditions, is imperative in rheumatologic diseases. Raynau...

Erythromelalgia. Part I: Pathogenesis, clinical features, evaluation, and complications.

Caldito EG, Kaul S, Caldito NG , et al. · Journal of the American Academy of Dermatology · 2024

Erythromelalgia is a rare pain disorder that is underrecognized and difficult-to-treat. It is characterized by episodes of extremity erythema and pain that can be disabling; it may be genetic, related...

Erythromelalgia. Part II: Differential diagnoses and management.

Caldito EG, Caldito NG, Kaul S , et al. · Journal of the American Academy of Dermatology · 2024

The management of erythromelalgia is challenging and requires multidisciplinary effort. Patient education is crucial as unsafe self-administered cooling techniques can lead to significant morbidity, i...

A cross-sectional study of erythromelalgia in patients with pachyonychia congenita.

McCarthy RL, Schwartz J, Oldham J , et al. · The British journal of dermatology · 2024

Red ear syndrome: a case series and review of the literature.

Callan GM, Freitag F, Tolebeyan AS · Journal of medical case reports · 2024

Red Ear Syndrome is a burning sensation and erythema of the ear, associated with a various number of disorders including migraine, trigeminal neuralgia, autoimmune disorders etc. Theories for RES path...

Successful Administration of Kampo Medicine and Acupuncture Treatment to Improve Erythromelalgia: A Case Report.

Kumada K, Matsumoto-Miyazaki J, Okada H , et al. · Cureus · 2024

Erythromelalgia is a rare disease characterized by a triad of recurrent burning pain, redness with pain, and hot flashes in the legs during attacks. We report the case of a 40-year-old woman who suffe...

Osimertinib‑induced erythromelalgia: A case report.

Bolzon A, Alessia Guidotti A, Alaibac MAS · Experimental and therapeutic medicine · 2024

The present study reports a case of osimertinib-induced erythromelalgia in a patient with metastatic lung adenocarcinoma. Osimertinib is an antineoplastic drug that irreversibly inhibits the epidermal...

Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).

Deuis JR, Kumble S, Keramidas A , et al. · Human molecular genetics · 2024

Erythromelalgia (EM), is a familial pain syndrome characterized by episodic 'burning' pain, warmth, and erythema. EM is caused by monoallelic variants in SCN9A, which encodes the voltage-gated sodium...

Erythromelalgia Secondary to Anti-Tumor Necrosis Factor (TNF) Alpha Therapy: A Report of Two Cases.

El Rhaoussi FZ, Boukhal Z, Haddad F , et al. · Cureus · 2024

Erythromelalgia is a rare syndrome with a generally unknown etiology. Whether primary or secondary, this condition is characterized by paroxysmal episodes of erythema, pain, and heat in the extremitie...

Digital gangrene: can be the first manifestation of essential thrombocythemia? a case report.

Mirhosseini A, Bozorgmehr R, Bastan F , et al. · Annals of medicine and surgery (2012) · 2024

Essential thrombocythemia (ET) is a rare chronic myeloproliferative hematologic disorder, leading to an elevated platelet count. Two-thirds of patients are asymptomatic during their lifetime, while ot...

Beyond Classic Leprosy: Exploring Atypical Manifestations and Their Diagnostic Challenges.

Bathina A, Kollipara H, Sravani G , et al. · Cureus · 2024

Leprosy, or Hansen's disease, is an ancient infectious disease characterized by varied clinical presentations influenced by the host's immune response. This study aimed to explore the atypical manifes...

A higher V617F allele burden may be a risk factor for hemorrhagic events in younger patients with polycythemia vera.

Furuya C, Hashimoto Y, Morishita S , et al. · Hematology (Amsterdam, Netherlands) · 2024

Hemorrhagic events are a rare but potentially fatal complication in patients with polycythemia vera (PV). We analyzed the characteristics of hemorrhagic events in 267 patients with PV. A median follow...

Vascular Disease Patient Information Page: Erythromelalgia.

Ratchford EV, Solomon AL, Davis MD · Vascular medicine (London, England) · 2024

Procedural interventions for erythromelalgia: A narrative review.

Lee JU, Ma JE, Sartori Valinotti JC , et al. · Vascular medicine (London, England) · 2024

Erythromelalgia is a rare disorder characterized by episodic burning pain with redness and warmth of the extremities. Topical and systemic medications are the mainstay of management. We reviewed the p...

Cytomegalovirus infection associated with livedo reticularis, erythromelalgia, and superficial venous thrombosis.

Maredia H, Link J · JAAD case reports · 2024

Analgesic effect of Botulinum toxin in neuropathic pain is sodium channel independent.

Kesdoğan AB, Neureiter A, Gaebler AJ , et al. · Neuropharmacology · 2024

Botulinum neurotoxin type A BoNT/A is used off-label as a third line therapy for neuropathic pain. However, the mechanism of action remains unclear. In recent years, the role of voltage-gated sodium c...

A novel cause of erythromelalgia due to pseudoephedrine.

Kravvas G, Aboukhatwah N, Ali L , et al. · Oxford medical case reports · 2024

Erythromelalgia is a rare, highly debilitating disorder characterised by severe episodes of discomfort, erythema, and desquamation of the extremities. Its causes include genetic factors, medications,...

Treating Erythromelalgia with Interosseous Membrane Stimulation: An Autonomic Basis for the Condition and Its Treatment.

Freedman M, Freedman BA, Miller JS , et al. · Medical acupuncture · 2024

Erythromelalgia, which has primary and secondary presentations, causes heat, pain, and redness in the skin. The condition seems to have an autonomic basis, with vasomotor dysfunction causing dilatatio...

Dysautonomia and response to guanfacine in individuals with an SCN9A variant.

Palma JA · Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2024

Essential Thrombocytosis in a Postmenopausal Female a Rare Cause of Aquagenic Pruritus.

Agrawal P, Garg R, Yadav SS , et al. · Journal of mid-life health · 2024

Essential thrombocytosis (ET) is a hematopoietic stem cell disorder in which the overproduction of platelets without a definable cause occurs. Its incidence is 1-2 per 100,000 population with female p...

[Quantification of Clitidine in Paralepistopsis acromelalga Using Quantitative NMR Method].

Ishida Y, Nagaoka Y · Shokuhin eiseigaku zasshi. Journal of the Food Hygienic Society of Japan · 2024

Because one toxic component of Paralepistopsis acromelalga, clitidine, is not commercially available as a reagent and because standards are difficult to obtain, a quantitative NMR method that requires...

Human pain channelopathies.

Comini M, Themistocleous AC, Bennett DLH · Handbook of clinical neurology · 2024

There has been significant progress in our understanding of the molecular basis by which nociceptors transduce and transmit noxious (tissue damaging) stimuli. This is dependent on ion channels, many o...

Stellate ganglion block beyond chronic pain: A literature review on its application in painful and non-painful conditions.

Singh H, Rajarathinam M · Journal of anaesthesiology, clinical pharmacology · 2024

Cervical sympathetic or stellate ganglion blocks (SGBs) have been commonly used in the treatment of painful conditions like complex regional pain syndrome (CRPS). However, there is literature to sugge...

Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.

Waheed S, Ramzan K, Ahmad S , et al. · PloS one · 2024

Single nucleotide polymorphisms are the most common form of DNA alterations at the level of a single nucleotide in the genomic sequence. Genome-wide association studies (GWAS) were carried to identify...

Cold and warmth intensify pain-linked sodium channel gating effects and persistent currents.

Kriegeskorte S, Bott R, Hampl M , et al. · The Journal of general physiology · 2023

Voltage-gated sodium channels (Nav) are key players in excitable tissues with the capability to generate and propagate action potentials. Mutations in the genes encoding Navs can lead to severe inheri...

A humanized chemogenetic system inhibits murine pain-related behavior and hyperactivity in human sensory neurons.

Perez-Sanchez J, Middleton SJ, Pattison LA , et al. · Science translational medicine · 2023

Hyperexcitability in sensory neurons is known to underlie many of the maladaptive changes associated with persistent pain. Chemogenetics has shown promise as a means to suppress such excitability, yet...

[Translated article] Primary Erythromelalgia: A Case Report.

Ballano Ruiz A, Aldea Manrique B, Diago Irache A , et al. · Actas dermo-sifiliograficas · 2023

Essential thrombocytosis: diagnosis, differential diagnosis, complications and treatment considerations of relevance for a cardiologist.

Kuipers RS, Kok L, Virmani R , et al. · Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation · 2023

Essential thrombocytosis (ET) is a rare haematological malignancy, with an incidence rate of 1.5-2.5/100,000 per year. For many patients with ET the first manifestation of their underlying disease is...

COVID-19 Vaccination-related Complex Regional Pain Syndrome Masquerading as Erythromelalgia: A Case Report.

Lorentzen KL, Bygum A · Acta dermato-venereologica · 2023

Na1.7 gain-of-function mutation I228M triggers age-dependent nociceptive insensitivity and C-LTMR dysregulation.

Wimalasena NK, Taub DG, Shim J , et al. · Experimental neurology · 2023

Gain-of-function mutations in Scn9a, which encodes the peripheral sensory neuron-enriched voltage-gated sodium channel Na1.7, cause paroxysmal extreme pain disorder (PEPD), inherited erythromelalgia (...

Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series.

Sun J, Ocay DD, Halpin M , et al. · Children (Basel, Switzerland) · 2023

Erythromelalgia is a descriptive term for severe burning pain and erythema in the distal extremities relieved by cold and exacerbated by heat. Pediatric case series to date are relatively small. We ex...

Polycythemia Vera: Thinking Beyond the Hematocrit.

Waggoner M · Journal of the advanced practitioner in oncology · 2023

Polycythemia vera is a Philadelphia chromosome-negative myeloproliferative neoplasm that results in increased myeloproliferation. It is a debilitating disease characterized by the overproduction of re...

Clinical Challenges in Primary Erythromelalgia: a Real-Life Experience from a Single Center and a Diagnostic-Therapeutic Flow-Chart Proposal.

Michelerio A, Tomasini C, Arbustini E , et al. · Dermatology practical & conceptual · 2023

Primary erythromelalgia (EM) is a rare clinical syndrome characterized by recurrent erythema, burning pain and warmth of the extremities. The symptoms greatly compromise the patients' quality of life...

Coexistence of erythromelalgia and Raynaud's phenomenon.

Chatterjee S · Joint bone spine · 2023

A severe case of primary erythromelalgia presenting as small fiber neuropathy with a novel SCN9A mutation.

Watabe D, Tominaga M, Toyama S , et al. · The Journal of dermatology · 2023

Primary erythromelalgia (PEM) is a rare condition characterized by severe burning pain, erythema, and increased temperature in the extremeties. Mutations in the Nav1.7 sodium channel encoded by the SC...

Erythromelalgia in a patient with feet erythema and cyanosis.

El Khatib K, Gerges Z, Azar N · BMJ case reports · 2023

Erythromelalgia is a rare disease characterised by a triad of a clinical syndrome of redness, warmth and painful extremities. We present the case of a male adolescent with no prior medical history who...

Stem cell-derived sensory neurons modelling inherited erythromelalgia: normalization of excitability.

Alsaloum M, Labau JIR, Liu S , et al. · Brain : a journal of neurology · 2023

Effective treatment of pain remains an unmet healthcare need that requires new and effective therapeutic approaches. NaV1.7 has been genetically and functionally validated as a mediator of pain. Precl...

Erythromelalgia: A Review of Medical Management Options and Our Approach to Management.

Ma JE, Lee JUJ, Sartori-Valinotti JC , et al. · Mayo Clinic proceedings · 2023

Erythromelalgia (EM) is a rare disorder characterized by episodic, burning pain associated with erythema and warmth of the extremities. The feet and hands are most commonly affected. The pain can be s...

Studying Erythromelalgia Using Doppler Flowmetry Perfusion Signals and Wavelet Analysis-An Exploratory Study.

Rodrigues LM, Caetano J, Andrade SF , et al. · Biomedicines · 2023

Erythromelalgia (EM) is a rare disease, which is still poorly characterized. In the present paper, we compared the hand perfusion of one female EM patient, under challenges, with a healthy control gro...

Structural basis for severe pain caused by mutations in the voltage sensors of sodium channel NaV1.7.

Wisedchaisri G, Gamal El-Din TM, Powell NM , et al. · The Journal of general physiology · 2023

Voltage-gated sodium channels in peripheral nerves conduct nociceptive signals from nerve endings to the spinal cord. Mutations in voltage-gated sodium channel NaV1.7 are responsible for a number of s...

I current stabilizes excitability in rodent DRG neurons and reverses hyperexcitability in a nociceptive neuron model of inherited neuropathic pain.

Vasylyev DV, Liu S, Waxman SG · The Journal of physiology · 2023

We show here that hyperpolarization-activated current (I ) unexpectedly acts to inhibit the activity of dorsal root ganglion (DRG) neurons expressing WT Nav1.7, the largest inward current and primary...

Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.

Yuan JH, Cheng X, Matsuura E , et al. · Journal of the peripheral nervous system : JPNS · 2023

Voltage-gated sodium channel Nav1.7, encoded by the SCN9A gene, has been linked to diverse painful peripheral neuropathies, represented by the inherited erythromelalgia (EM) and paroxysmal extreme pai...

Cyclosporine-induced erythromelalgia.

Caiza-Zambrano F, Galarza J, Benetti M , et al. · Practical neurology · 2023

Erythromelalgia is a rare syndrome characterised by recurrent erythema, heat and burning pain in the extremities. There are two types: primary (genetic) and secondary (toxic, drug-related or associate...

Part II: Cutaneous manifestations of peripheral vascular disease.

Raja A, Karch J, Shih AF , et al. · Journal of the American Academy of Dermatology · 2023

In this Part 2 of a 2-part continuing medical education series, we review the epidemiology of peripheral vascular disease, its association with cutaneous symptoms, and the diagnosis and evaluation of...

Structural basis for severe pain caused by mutations in the S4-S5 linkers of voltage-gated sodium channel Na1.7.

Wisedchaisri G, Gamal El-Din TM, Zheng N , et al. · Proceedings of the National Academy of Sciences of the United States of America · 2023

Gain-of-function mutations in voltage-gated sodium channel Na1.7 cause severe inherited pain syndromes, including inherited erythromelalgia (IEM). The structural basis of these disease mutations, howe...

Remission of Pain From Frostbite and Erythromelalgia With Epidural Infusion of Ropivacaine: Results of a Two-Year Follow-Up.

Giaimo JD, Paulk KL, Phelan HA , et al. · The American surgeon · 2023

A case of erythromelalgia with gastrointestinal dysautonomia treated with immunoglobulin: A case report.

Bourkas AN, Geng R, Sibbald M , et al. · SAGE open medical case reports · 2023

An 18-year-old female with a history of atopic march, hyperhidrosis, and eosinophilic esophagitis was diagnosed with erythromelalgia and gastrointestinal dysautonomia secondary to presumed autoimmune...

Dyskinesia due to mexiletine overdose: a rare presentation.

Öztürk Z, Aydın O, Bodur İ , et al. · The Turkish journal of pediatrics · 2023

Mexiletine, a class IB antiarrhythmic, is a structural analog of lidocaine. Our knowledge of mexiletine overdose is based on lidocaine overdose reports. Only a few cases of mexiletine overdose have be...

Case report: Spinal cord stimulation in the treatment of pediatric erythromelalgia.

Zuo L, Su A, Shi Y , et al. · Frontiers in neurology · 2023

In children, erythromelalgia is a rare chronic pain syndrome characterized by erythema, severe burning pain, and itching of affected feet. Unfortunately, there is no definitive therapy available curre...

[Simultaneous Analysis of Paralepistopsis acromelalga Applied to Cooked and Processed Foods].

Ishida Y, Ouchi H, Kan T , et al. · Shokuhin eiseigaku zasshi. Journal of the Food Hygienic Society of Japan · 2023

The applicability of a method for simultaneous analysis of Acromelic acids A, B, and Clitidine, which are venomous constituents of Paralepistopsis acromelalga, was assessed for three simulations: temp...

Endoscopic lumbar sympathectomy as a treatment option for primary erythromelalgia - case report and review.

Loureiro MP, Novais PM, Paulin JAN , et al. · Jornal vascular brasileiro · 2023

Erythromelalgia is a rare disease, involving pain, edema, redness, and hyperthermia in the limbs. It is extremely refractory to drugs, has no defined treatment, and causes psychological comorbidities...

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.

Themistocleous AC, Baskozos G, Blesneac I , et al. · Brain communications · 2023

The aims of our study were to use whole genome sequencing in a cross-sectional cohort of patients to identify new variants in genes implicated in neuropathic pain, to determine the prevalence of known...

[Erythromelalgia as a first clinical manifestation of polycythemia vera in an elderly patient].

Qanneta R, Sopena E, Bové-Aleu E · Revista espanola de geriatria y gerontologia · 2023

A stepwise approach for the management of primary erythromelalgia: A prospective single-arm study.

Wang Z, Wang H, Lee M , et al. · Journal of the American Academy of Dermatology · 2022

Red scrotum syndrome: An update on clinicopathologic features, pathogenesis, diagnosis, and management.

Khalil S, Kurban M, Abbas O · Journal of the American Academy of Dermatology · 2022

The genital skin may be affected by a variety of dermatoses, be it inflammatory, infectious, malignant, idiopathic, or others. The red scrotum syndrome is characterized by persistent erythema of the s...

Stellate Ganglion Block for the Treatment of Facial Erythromelalgia: A Case Report.

Alzarah MA, Kim AJ · Pain medicine case reports · 2022

Erythromelalgia (EM) is a rare disease characterized by recurrent episodes of erythema, pain, and burning dysesthesia, most often involving the extremities. A rare, atypical presentation involves the...

Pain triangle phenomenon in possible association with SCN9A: A case report.

Sopacua M, Hoeijmakers JGJ, van der Kooi AJ , et al. · Molecular genetics & genomic medicine · 2022

Voltage-gated sodium channels are essential for the generation and conduction of electrical impulses in excitable cells. Sodium channel Na 1.7, encoded by the SCN9A-gene, has been of special interest...

[Paroxysmal vascular acrosyndromes: Practical approach to diagnosis and management].

Senet P · La Revue de medecine interne · 2022

Paroxysmal vascular acrosyndromes are related to a peripheral vasomotor disorder and presented as paroxysmal color changes of the fingers. They include primary Raynaud's phenomenon (RP), which is the...

Topical treatments for erythromelalgia.

Raef HS, Williams M, Fedeles F · Dermatologic therapy · 2022

Erythromelalgia is a rare neurovascular disease that causes episodes of pain, redness, and warmth in the extremities, and can be debilitating. Currently, there is no universally effective treatment fo...

Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review.

Spodzieja K, Olczak-Kowalczyk D · International journal of environmental research and public health · 2022

Premature loss of primary teeth can occur as a consequence of dental trauma, neonatal tooth extraction, early childhood caries, or periodontal problems, or it can be a manifestation of systemic diseas...

Post-operative erythromelalgia treated with calcium channel blockers.

Mostafa PIN, Khedr A · Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2022

Eltrombopag-associated erythromelalgia in idiopathic thrombocytopenic purpura.

Perez J, Khouri C, Park S , et al. · The British journal of dermatology · 2022

Erythromelalgia Associated with Neuropathy in Sjögren's Syndrome: A Case Report.

Saito N, Ashida A, Shirota S , et al. · Acta dermato-venereologica · 2022

Erythromelalgia in an Adolescent Female.

Mamatsi E, Giorgi M, Dinopoulos A , et al. · Mediterranean journal of rheumatology · 2022

Erythromelalgia is a disabling syndrome of paroxysmal vasodilation affecting the feet, hands and face characterised by patient's cooling behaviour to achieve symptom relief. It can be primary or secon...

[Functional vascular acrosyndromes].

Klein-Weigel P, Ruttloff A, König D , et al. · Innere Medizin (Heidelberg, Germany) · 2022

Vascular acrosyndromes are characterized by sparse, uniform clinical manifestations and a variety of possible pathomechanisms. The present article focuses on the functional entities. Raynaud phenomeno...

Erythromelalgia presenting with body pain.

Ishizuka K, Yokokawa D, Ikusaka M · CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2022

Evaluating efficacy of treatments for erythromelalgia in the setting of biopsy proven small fibre reduction.

Akabane AL, Smith GP · Clinical and experimental dermatology · 2022

Erythromelalgia: Pain and Redness of the Feet after Warm Water Exposure.

Fukui S, Tamaki H, Okada M · Internal medicine (Tokyo, Japan) · 2022

A Case of Pediatric Auricular Erythromelalgia.

Reese A, DiNardo L, Powers K , et al. · Cureus · 2022

Erythromelalgia is a rare clinical syndrome involving erythema, warmth, and burning pain in one or more of the extremities. Primary erythromelalgia is idiopathic and can begin during childhood or adul...

Not Another Presentation of Cellulitis: A Case Report of Erythromelalgia.

Assaf RR, Winters K · Journal of education & teaching in emergency medicine · 2022

Cellulitis is among the more common conditions diagnosed and treated within pediatric emergency departments. However, unusual distribution, recurrence, and/or poor response to antibiotics may point to...

Life-threatening hypothermia in a child with primary erythromelalgia.

Matarneh B, Witman P · Pediatric dermatology · 2022

Primary erythromelalgia is a rare autosomal-dominant condition due to pathogenic variant in the SCN9A gene, characterized by childhood onset of excruciating pain, redness, and warmth of acral sites. P...

Cutaneous manifestations of small fibre polyneuropathy.

Akabane AL, Smith GP · Journal of the European Academy of Dermatology and Venereology : JEADV · 2022

Because typical and atypical features of small fibre polyneuropathy (SFN) in the skin have not been fully elucidated, the diagnosis is often made by the exclusion of alternative conditions rather than...

Clinical and pathologic correlation of cutaneous COVID-19 vaccine reactions including V-REPP: A registry-based study.

McMahon DE, Kovarik CL, Damsky W , et al. · Journal of the American Academy of Dermatology · 2022

Cutaneous reactions after COVID-19 vaccination have been commonly reported; however, histopathologic features and clinical correlations have not been well characterized. We evaluated for a history of...

The Case of the Red Extremities.

Abarikwu K, Komara JS, Urumov A · Clinical practice and cases in emergency medicine · 2022

A 37-year-old man with severe obstructive sleep apnea presented to the emergency department with burning pain, redness and swelling in his hands and feet, worsening for several weeks. Pertinent labora...

Cutaneous findings following COVID-19 vaccination: review of world literature and own experience.

Gambichler T, Boms S, Susok L , et al. · Journal of the European Academy of Dermatology and Venereology : JEADV · 2022

There is growing evidence that not only the novel coronavirus disease (COVID-19) but also the COVID-19 vaccines can cause a variety of skin reactions. In this review article, we provide a brief overvi...

Erythromelalgia improvement after percutaneous tricuspid regurgitation repairment in a patient with polycythemia vera.

Flores-Umanzor E, Cepas-Guillen P, Freixa X · Medicina clinica · 2022

Hormone replacement therapy-induced pain and redness of the feet.

Lu J, Lu Y · Clinical and experimental dermatology · 2022

We report the first case, to our knowledge, of a patient who developed erythromelalgia after receiving oestrogen-progestin replacement therapy (Femoston). The patient had complete remission after taki...

Primary Erythromelalgia Treated With 10% Capsaicin Cream: A Case Report and a 10-Year Follow-Up.

Tolley JA, Walsh LE · Cureus · 2022

In this case report, we describe the difficulty in finding a suitable treatment for a nine-year-old girl with erythromelalgia. Initially, she could only find pain relief through immersion of her hands...

If your ears are burning we must be talking about red ear syndrome: A brief report.

Courtney A, Holmes Z, Weston S · The Australasian journal of dermatology · 2022

Red Ear Syndrome is an uncommon disorder that can affect all age groups. It is frequently referred to Dermatology as it can present similarly to erythromelalgia. Although the exact pathophysiology is...

Intravenous Ketamine Infusion as an Adjunctive Pain Treatment for Erythromelalgia: A Pediatric Case Report.

Montoya L, Adams AC, Popenhagen MP , et al. · A&A practice · 2022

Erythromelalgia is a rare neurovascular pain condition characterized by erythematous, warm, and painful extremities. Symptoms are exacerbated by heat and relieved by cooling. Treatment is challenging...

Ragged cuticles and erythematous hands and feet in a pediatric patient with chronic diarrhea.

Li AR, Hashemi KB, Silver K , et al. · JAAD case reports · 2022

Successful treatment of knee erythromelalgia with topical oxymetazoline.

Altemir A, Iglesias-Sancho M, Barrabés-Torrella C , et al. · Clinical and experimental dermatology · 2022

Erythromelalgia is an infrequent syndrome with a profound impact on quality of life. Its management is usually challenging and multiple treatments have been reported with variable response rates. To t...

Bringing to light the physiological and pathological firing patterns of human induced pluripotent stem cell-derived neurons using optical recordings.

Alich TC, Röderer P, Szalontai B , et al. · Frontiers in cellular neuroscience · 2022

Human induced pluripotent stem cells (hiPSCs) are a promising approach to study neurological and neuropsychiatric diseases. Most methods to record the activity of these cells have major drawbacks as t...

Erythromelalgia successfully treated with low-dose gabapentin in a pediatric patient.

Phong CH, Birmingham SW, Rojek NW · SAGE open medical case reports · 2022

Primary erythromelalgia, while uncommon, may significantly decrease the quality of life of those affected. While many patients with erythromelalgia require systemic therapy, there is no standard of ca...

Association between systemic sclerosis, palmar fasciitis with polyarthritis, Raynaud's phenomenon and erythromelalgia with underlying malignancy.

Nowak K, Wright G · Reumatologia · 2022

The symptoms of a rheumatic disease may also be a sign of a proliferative process. These include conditions that present with skin and vascular changes such as systemic sclerosis and Raynaud's phenome...

Primary erythromelalgia mainly manifested by hypertensive crisis: A case report and literature review.

Feng S, He Z, Que L , et al. · Frontiers in pediatrics · 2022

Primary erythrocytic (PEM) is a rare autosomal dominant single gene disease. Most of the changes of gene loci can be found by whole exon gene sequencing, and the clinical symptoms and patient survival...

[Isolating Venomous Constituents of Paralepistopsis acromelalgaand Simultaneous Analysis of Its Compounds].

Ishida Y, Ouchi H, Kan T , et al. · Shokuhin eiseigaku zasshi. Journal of the Food Hygienic Society of Japan · 2022

An isolation method for Acromelic acids A, B and Clitidine, which are venomous constituents of Paralepistopsis acromelalga was developed. Highly purified products were obtained from the mushroom extra...

Auricular erythermalgia showing excellent response to itraconazole: a case report.

Ye YT, Lu JF, Wu HH , et al. · Therapeutic advances in chronic disease · 2022

Erythermalgia, a rare painful disorder, is characterized by recurrent pain attacking, warmth, and erythema that mainly involves the distal extremities. Red ear syndrome shares similar clinical feature...

Erythromelalgia associated with dermatomyositis: A case series.

Grinnell M, Keyes E, Wat M , et al. · JAAD case reports · 2021

Three Cases of Food Poisoning Due to Paralepistopsis acromelalga Diagnosed from an Outbreak of Erythromelalgia.

Mizusawa K, Shimizu T · Internal medicine (Tokyo, Japan) · 2021

A married couple of a 62-year-old woman and a 64-year-old man as well as their neighbor, an 84-year-old woman, visited the hospital complaining of a burning sensation on their hands and feet that had...

Combination gel of 2% amitriptyline and 0.5% ketamine to treat refractory erythromelalgia pain - a case report of pain control success.

Portugal F, Araújo A, Silva C , et al. · Revista espanola de anestesiologia y reanimacion · 2021

Erythromelalgia (EM) is a rare autosomal dominant neuropathy characterized by the combination of severe burning pain and erythematous warm extremities. Chronic pain control is most often unsuccessful...

Population Pharmacokinetics of Vixotrigine in Healthy Volunteers and Subjects with Trigeminal Neuralgia, Painful Lumbosacral Radiculopathy and Erythromelalgia.

Naik H, Zhao Y, Forrestal F , et al. · European journal of drug metabolism and pharmacokinetics · 2021

Vixotrigine is a voltage and use dependent sodium channel blocker currently under development for treatment of various neuropathic pain indications. The objective of this work was to develop a populat...

Combination gel of 2% amitriptyline and 0.5% ketamine to treat refractory erythromelalgia pain - a case report of pain control success.

Portugal F, Araújo A, Silva C , et al. · Revista espanola de anestesiologia y reanimacion · 2021

Erythromelalgia (EM) is a rare autosomal dominant neuropathy characterized by the combination of severe burning pain and erythematous warm extremities. Chronic pain control is most often unsuccessful...

Acral vascular syndrome Lennert type T cell lymphoma-a case report.

Klanidhi KB, Monian SA, Chakrawarty A · Journal of the Egyptian National Cancer Institute · 2021

Acral vascular syndrome clinically presents as digital ischemia with Raynaud's phenomenon and erythromelalgia but can be rarely seen in the malignant condition. Patients may present pain, permanent di...

Successful use of phlebotomy to treat severe secondary polycythemia due to chronic lung disease.

Fuqua J, Reece J, Sofka S · Hematology reports · 2021

Secondary polycythemia (SP) occurs as a result of increase erythropoietin levels most commonly as a result of tissue hypoxia. Symptoms such as erythromelalgia, pruritis, and bleeding, which are freque...

Erythermalgia (erythromelalgia). Redefining the classification of adult erythromelalgia.

Lazareth I, Yannoutsos A · Journal de medecine vasculaire · 2021

CT-guided Chemical Lumbar Sympathectomy in the Treatment of Cold Hypersensitivity in the Hands and Feet.

Tao J, Zhu J, Wang T , et al. · Pain physician · 2021

Cold hypersensitivity in the hands and feet is a common clinical symptom in Asian women. Currently, treatment of cold hypersensitivity in the hands and feet is still limited to traditional Chinese med...

Cutaneous reactions reported after Moderna and Pfizer COVID-19 vaccination: A registry-based study of 414 cases.

McMahon DE, Amerson E, Rosenbach M , et al. · Journal of the American Academy of Dermatology · 2021

Cutaneous reactions after messenger RNA (mRNA)-based COVID-19 vaccines have been reported but are not well characterized. To evaluate the morphology and timing of cutaneous reactions after mRNA COVID-...

Dorsal Root Ganglion Stimulation for Erythromelalgia Related Foot Pain: A Case Report and Review of the Literature.

Hagedorn JM, Canzanello N, Lamer TJ · Pain practice : the official journal of World Institute of Pain · 2021

Erythromelalgia is a rare neurovascular disorder characterized by erythema, warmth, and episodic burning pain, often felt in the face, hands, and feet. Symptoms are typically worse with heat, exercise...

Painful, reappearing eruption in a medically complex 4-year-old.

Sooy M, Randell RL, Tchapyjnikov D , et al. · BMJ case reports · 2021

A 4-year-old boy with atypical, complete DiGeorge and CHARGE (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities and ear abnormalities) syndromes presented with freque...

Simvastatin-induced erythromelalgia: less is more.

Vanwonterghem Y, Shadid S · Acta clinica Belgica · 2021

We describe a case of a woman with uncomplicated Type 2 diabetes mellitus, presenting with severe burning pains and intense redness of the legs, for which only cooling could provide relief. Although t...

Genetic aspects of pain and its variability in the human population.

Świtała WW, Szymańska-Adamcewicz O, Jurga S , et al. · Annals of agricultural and environmental medicine : AAEM · 2021

The sensation of pain is common to both animals and human beings. Its threshold, intensity, tolerability, and characteristics are variable and depend on ethnicity, gender, stress exposure, co-existing...

Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect.

Le Cann K, Meents JE, Sudha Bhagavath Eswaran V , et al. · Channels (Austin, Tex.) · 2021

Mutations in the voltage-gated sodium channel Nav1.7 are linked to human pain. The Nav1.7/N1245S variant was described before in several patients suffering from primary erythromelalgia and/or olfactor...

High frequency dorsal column spinal cord stimulation for management of erythromelalgia.

Lam CM, Zayed H, Sayed D · BMJ case reports · 2021

Erythromelalgia is a rare hereditary channelopathy affecting the Nav1.7 sodium channel. Patients afflicted with this condition suffer from pain in their hands and feet, with vasomotor changes includin...

Fish Oil and BCQ™ as a Novel Treatment Approach to Primary Erythromelalgia: A Case Study.

Moehle J, Fuller L, Hardin A · Integrative medicine (Encinitas, Calif.) · 2021

Erythromelalgia (EM) is a rare disorder, of which the pathophysiology is poorly understood. Though primary EM is thought to be an autosomal-dominant inherited disorder or of idiopathic origin, seconda...

A reappraisal of the presence of small or large fiber neuropathy in patients with erythromelalgia.

Reach P, Lazareth I, Coudore F , et al. · Neurophysiologie clinique = Clinical neurophysiology · 2021

To assess the contribution of large and small nerve fiber alteration in erythromelalgia (EM). Thirty-three EM patients were included and underwent clinical evaluation based on EM severity score, DN4,...

Erythromelalgia: A Child With V400M Mutation in the Gene.

Nwebube C, Bulancea S, Marchidann A , et al. · Neurology. Genetics · 2021

variants and pain modulation: a missense variant in Kv7.3 contributes to pain resilience.

Yuan JH, Estacion M, Mis MA , et al. · Brain communications · 2021

There is a pressing need for understanding of factors that confer resilience to pain. Gain-of-function mutations in sodium channel Nav1.7 produce hyperexcitability of dorsal root ganglion neurons unde...

Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity.

Kerth CM, Hautvast P, Körner J , et al. · The Journal of biological chemistry · 2021

Mutations in voltage-gated sodium channels (Navs) can cause alterations in pain sensation, such as chronic pain diseases like inherited erythromelalgia. The mutation causing inherited erythromelalgia,...

Acute dysautonomia and erythromelalgia associated with testicular seminoma: A case report.

Demuth S, Courtois S, Cohen E , et al. · Revue neurologique · 2021

Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy.

Faignart N, Nguyen K, Soroken C , et al. · European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2020

The small-fiber polyneuropathies (SFN) are a class of diseases in which the small thin myelinated (Aδ) and/or unmyelinated (C) fibers within peripheral nerves malfunction and can degenerate. SFN usual...

Extensive Lumbar Sympathetic Ganglion Block Combined With Epidural Block for Primary Erythromelalgia: A Case Report.

Ogawa S, Ueno H, Maruyama A , et al. · A&A practice · 2020

A 19-year-old-woman experienced severe burning pain in the lower extremities with erythema and swelling. She was diagnosed with primary erythromelalgia (PE). The pain was unresponsive to medications b...

Autoimmune progesterone dermatitis mimicking facial erythromelalgia successfully treated with hysterectomy and bilateral salpingo-oophorectomy.

Whitt W, Stiegler JD, Richardson CT · JAAD case reports · 2020

Red Ear Syndrome After Tympanoplasty: A New Association to Add to the List!

Soares C, Alves F, Pinto M , et al. · Headache · 2020

Uncoupling sodium channel dimers restores the phenotype of a pain-linked Na 1.7 channel mutation.

Rühlmann AH, Körner J, Hausmann R , et al. · British journal of pharmacology · 2020

The voltage-gated sodium channel Na 1.7 is essential for adequate perception of painful stimuli. Mutations in the encoding gene, SCN9A, cause various pain syndromes in humans. The hNa 1.7/A1632E chann...

Spinal Cord Stimulation in the Treatment of Pediatric Erythromelalgia.

Fan X, Bu H, Wen Y , et al. · World neurosurgery · 2020

In children, erythromelalgia is a rare but difficult to manage condition that results in bilateral episodic pain and redness in distal extremities. It is heat intolerant and relieved by cooling. Manag...

Successful ultrasound-guided stellate ganglion block treatment in a patient with upper limb erythromelalgia.

Zhu Y, Wang F, Zhu T · Dermatologic therapy · 2020

Drug repurposing in Raynaud's phenomenon through adverse event signature matching in the World Health Organization pharmacovigilance database.

Zaza P, Matthieu R, Jean-Luc C , et al. · British journal of clinical pharmacology · 2020

Several pharmacological treatments are recommended for Raynaud's phenomenon (RP) secondary to systemic sclerosis, but they only have modest efficacy. A way to efficiently identify new drugs is drug re...

Heater-Associated Erythema Ab Igne: Case Report and Review of Thermal-Related Skin Conditions.

Forouzan P, Riahi RR, Cohen PR · Cureus · 2020

Erythema ab igne is a thermal-associated skin condition that can occur secondary to persistent direct or indirect contact with heat. Historically, erythema ab igne has been linked to fireplace and sto...

[Acrosyndromes (Raynaud's phenomenon, erythermalgia, acrocyanosis, frostbite, digital].

Andrès E, Serraj K · La Revue du praticien · 2020

Erythromelalgic Symptoms in Left Subclavian Artery Stenosis.

Kametani T, Otani Y, Kanno K , et al. · Internal medicine (Tokyo, Japan) · 2020

Small-fiber neuropathy associated with autoinflammatory syndromes in children and adolescents.

Shinkarevsky Fleitman I, Nevo Y, Harel L , et al. · Muscle & nerve · 2020

Small-fiber neuropathy is rare in children. It has been associated with several autoimmune disorders, but there are no reports of an autoinflammatory etiology. The data of four children/adolescents pr...

DETERMINING THE RISK OF THROMBOSIS AMONG THE PATIENTS WITH ESSENTIAL THROMBOCYTHEMIA.

Ghirdaladze D, Vatsadze T, Kirtava T · Georgian medical news · 2020

The aim of the studywas to determine the risk of thrombosis among patients with Essential thrombocythemia based on the modern criteria of diagnosis and to reveal the treatment accordingmethods of rese...

Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations.

Greco C, Leclerc-Mercier S, Chaumon S , et al. · JAMA dermatology · 2020

Olmsted syndrome is a genodermatosis characterized by painful and mutilating palmoplantar keratoderma (PPK) that progresses from infancy onward and lacks an effective treatment. It is most often cause...

Secondary Erythromelalgia - Case Report.

Gil F, Luís P, Duarte M , et al. · Actas dermo-sifiliograficas · 2020

Heterogeneous presentation of caspr2 antibody-associated peripheral neuropathy - A case series.

Ellwardt E, Geber C, Lotz J , et al. · European journal of pain (London, England) · 2020

Contactin-associated protein 2-like (caspr2) antibodies have been discovered recently. Since then a multitude of patients with caspr2 antibodies presenting with different neurological symptoms have be...

Erythromelalgia successfully treated with sulodexide.

Golińska J, Sar-Pomian M, Rudnicka L · Clinical and experimental dermatology · 2020

Two Cases of Severe Hypertension in JAK2 Mutation-Positive Myeloproliferative Neoplasms.

Rao R, Kulkarni S, Wilkinson IB · Case reports in vascular medicine · 2020

Myeloproliferative neoplasms are a heterogeneous group of disorders resulting from the abnormal proliferation of one or more terminal myeloid cells-established complications include thrombosis and hae...

Erythromelalgia Caused by Polycythemia Vera Combined with Primary Aldosteronism.

Suzuki M, Watari T · European journal of case reports in internal medicine · 2020

A 61-year-old woman with a history of primary aldosteronism caused by unilateral hyperplasia of the adrenal gland presented with a 2-week history of redness and severe pain in the right thumb and then...

Red Ear Syndrome: A Case Presentation and Discussion.

Brackenrich J, Sternad S, Johnston C · HCA healthcare journal of medicine · 2020

Red Ear Syndrome (RES) is a condition often considered to be a localized form of erythromelalgia. It can be related to structural cervical defects or idiopathic. RES is generally very difficult to tre...

Targeting Neuropathic Pain: Pathobiology, Current Treatment and Peptidomimetics as a New Therapeutic Opportunity.

Caroleo MC, Brizzi A, De Rosa M , et al. · Current medicinal chemistry · 2020

There is a huge need for pharmaceutical agents for the treatment of chronic Neuropathic Pain (NP), a complex condition where patients can suffer from either hyperalgesia or allodynia originating from...

Microvascular imaging of primary erythromelalgia.

Hellmann M, Imbert B, Cracowski JL · Polish archives of internal medicine · 2019

Behavioral therapy ceased cold water immersion dependence in a patient with familial erythromelalgia caused by mutation.

Ito M, Yamaguchi S, Omine T , et al. · JAAD case reports · 2019

Pediatric red ear syndrome: A case report of an erythromelalgia type and review of the literature.

Cinats AK, Haber RM · Pediatric dermatology · 2019

Red ear syndrome has been reported in the literature to have similarities to erythromelalgia with auricular involvement; however, the distinction between the two is controversial. Red ear syndrome has...

A case of sporadic erythromelalgia presenting with small fibre neuropathy.

Patel P, Zhang Y, Unikel LH , et al. · BMJ case reports · 2019

Erythromelalgia (EM) is a rare disorder of small nerve fibres that leads to painful flushing and burning paresthesisas of the distal extremities and is typically associated with heat or physical activ...

[Erythromelalgia: skin redness and pain].

Dusch M, Schmelz M · Schmerz (Berlin, Germany) · 2019

Erythromelalgia is a rare disease that is associated with hemato-oncological diseases or after taking certain drugs and toxins, but it can also occur as an independent clinical picture, for example, d...

Vascular acrosyndromes in young adult population. Definition of clinical symptoms and connections to joint hypermobility.

Vounotrypidis P, Pyrpasopoulou A, Sakellariou GT , et al. · Clinical rheumatology · 2019

Clinical recognition of vascular acrosyndromes is often challenging. The term Raynaud's phenomenon (RP) is commonly overused to describe any form of cold-related disorder. This study aims to formally...

Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia.

Huppke P, Wegener E, Gilley J , et al. · Experimental neurology · 2019

We identified a homozygous missense mutation in the gene encoding NAD synthesizing enzyme NMNAT2 in two siblings with childhood onset polyneuropathy with erythromelalgia. No additional homozygotes for...

Sporadic Erythromelalgia Associated with a Homozygous Carrier of Common Missense Polymorphism in SCN9A Gene Coding for NaV1.7 Voltage-gated Sodium Channel.

Janicki PK, Ruiz-Velasco V, Adhikary S · Cureus · 2019

A 68-year-old female with a history of sporadic type and presumably secondary erythromelalgia with chronic intractable pain presented for foot surgery. The procedure was performed with combined genera...

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Eijkenboom I, Sopacua M, Hoeijmakers JGJ , et al. · Journal of neurology, neurosurgery, and psychiatry · 2019

Neuropathic pain is common in peripheral neuropathy. Recent genetic studies have linked pathogenic voltage-gated sodium channel (VGSC) variants to human pain disorders. Our aims are to determine the f...

Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series.

Arthur L, Keen K, Verriotis M , et al. · The Journal of pediatrics · 2019

To evaluate the clinical features of erythromelalgia in childhood associated with gain-of-function SCN9A mutations that increase activity of the Na1.7 voltage-gated sodium channel, we conducted a syst...

Red Scrotum Syndrome Treatment with Pregabalin: A Case Series.

Cardenas-de la Garza JA, Villarreal-Villarreal CD, Cuellar-Barboza A , et al. · Annals of dermatology · 2019

Red scrotum syndrome (RSS) (also known as male genital dysesthesia) is a rarely recognized entity characterized by scrotal erythema accompanied by a burning sensation, pain, hyperesthesia/dysesthesia,...

The role of Nav1.7 in human nociceptors: insights from human induced pluripotent stem cell-derived sensory neurons of erythromelalgia patients.

Meents JE, Bressan E, Sontag S , et al. · Pain · 2019

The chronic pain syndrome inherited erythromelalgia (IEM) is attributed to mutations in the voltage-gated sodium channel (NaV) 1.7. Still, recent studies targeting NaV1.7 in clinical trials have provi...

Botulinum Toxin as Successful Treatment of Refractory Erythromelalgia Pain.

Gerwin RD · Pain medicine (Malden, Mass.) · 2019

Sodium Channels in Human Pain Disorders: Genetics and Pharmacogenomics.

Dib-Hajj SD, Waxman SG · Annual review of neuroscience · 2019

Acute pain is adaptive, but chronic pain is a global challenge. Many chronic pain syndromes are peripheral in origin and reflect hyperactivity of peripheral pain-signaling neurons. Current treatments...

Review of primary and secondary erythromelalgia.

Mann N, King T, Murphy R · Clinical and experimental dermatology · 2019

Erythromelalgia is a condition characterized by episodic pain, erythema and temperature of the extremities, which is relieved by cooling and aggravated by warming. It is useful to review this topic in...

Resilience to Pain: A Peripheral Component Identified Using Induced Pluripotent Stem Cells and Dynamic Clamp.

Mis MA, Yang Y, Tanaka BS , et al. · The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019

Pain is a complex process that involves both detection in the peripheral nervous system and perception in the CNS. Individual-to-individual differences in pain are well documented, but not well unders...

[Neuropathic pain syndromes and channelopathies].

Dohrn MF, Lampert A, Üçeyler N , et al. · Der Internist · 2019

The causes for neuropathic pain are manifold and remain unexplained in the majority of cases. In recent years a growing number of pain syndromes have been attributed to mutations in genes encoding vol...

Erythromelalgia: improvement in pain with transcranial magnetic stimulation.

Tjahjono LA, Sandroni P, Sampson S , et al. · International journal of dermatology · 2019

Anomalous enhancement of resurgent Na currents at high temperatures by SCN9A mutations underlies the episodic heat-enhanced pain in inherited erythromelalgia.

Huang CW, Lai HJ, Huang PY , et al. · Scientific reports · 2019

Inherited erythromelalgia (IEM), caused by mutations in Na1.7 channel is characterized by episodic neuropathic pain triggered especially by warm temperature. However, the mechanism underlying the temp...

Erythromelalgia and Peripheral Nerve Block: A Case Report.

Lorello GR, Perlas A · A&A practice · 2019

A 79-year-old woman with primary erythromelalgia underwent a left reverse total shoulder arthroplasty with a left interscalene nerve block, a superficial cervical plexus block, and a general endotrach...

Pediatric erythromelalgia treated with epidural ropivacaine infusion.

Lee CE, Paulk K, Garvie K , et al. · JAAD case reports · 2019

Case Report and Literature Review: Interventional Management of Erythromelalgia.

Chinn G, Guan Z · Translational perioperative and pain medicine · 2019

Erythromelalgia is a rare and very difficult to treat pain syndrome that usually presents as severe bilateral burning pain in the extremities. Here we present a case of a 34-year-old female with eryth...

Erythermalgia Involving the Face Alone: Two Case Reports.

Liu JH, Weng ZS, Luo DQ , et al. · Journal of oral & facial pain and headache · 2019

Erythermalgia is a rare cutaneous disease characterized by episodic attacks of burning pain, erythema, and increased temperature. It primarily involves the extremities, with possible extensions to the...

Selective Na1.7 Antagonists with Long Residence Time Show Improved Efficacy against Inflammatory and Neuropathic Pain.

Bankar G, Goodchild SJ, Howard S , et al. · Cell reports · 2018

Selective block of Na1.7 promises to produce non-narcotic analgesic activity without motor or cognitive impairment. Several Na1.7-selective blockers have been reported, but efficacy in animal pain mod...

Reduction in pain following treatment with ranolazine in primary erythromelalgia: a case report.

Greco C, Chaumon S, Viallard ML , et al. · The British journal of dermatology · 2018

Cyclosporine-induced Erythromelalgia.

Bibb LA, Winter RP, Leicht SS · Cureus · 2018

Erythromelalgia is a neurovascular disorder which causes pain, swelling, erythema, and warmth of the distal extremities. Primary disease is due to a genetic mutation in the gene, but secondary erythr...

Insensitivity to Pain upon Adult-Onset Deletion of Nav1.7 or Its Blockade with Selective Inhibitors.

Shields SD, Deng L, Reese RM , et al. · The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018

Strong human genetic evidence points to an essential contribution of the voltage-gated sodium channel Nav1.7 to pain sensation: loss of Nav1.7 function leads to congenital insensitivity to pain, where...

Mutation in Na 1.7 causes high olfactory sensitivity.

Haehner A, Hummel T, Heinritz W , et al. · European journal of pain (London, England) · 2018

Mutations in the sodium-channel Na 1.7, encoded by the gene SCN9A, are known to cause pain disorders. In particular, gain-of-function missense mutations in Na 1.7 have been shown to be causal in prima...

Reply to: "Facial erythromelalgia?".

Sadeghian A, Rouhana H, Oswald-Stumpf B , et al. · Journal of the American Academy of Dermatology · 2018

Facial erythromelalgia?

Davis MDP · Journal of the American Academy of Dermatology · 2018

Beyond Sensation: Exploring the Molecular and Genetic Basis for Pain: An Interview with Stephen Waxman, MD, PhD.

DeNardo EK · The Yale journal of biology and medicine · 2018

Reverse pharmacogenomics: carbamazepine normalizes activation and attenuates thermal hyperexcitability of sensory neurons due to Na 1.7 mutation I234T.

Yang Y, Adi T, Effraim PR , et al. · British journal of pharmacology · 2018

Pharmacotherapy for pain currently involves trial and error. A previous study on inherited erythromelalgia (a genetic model of neuropathic pain due to mutations in the sodium channel, Na 1.7) used gen...

Mindfulness-Based Cognitive Hypnotherapy and Skin Disorders.

Shenefelt PD · The American journal of clinical hypnosis · 2018

Mindfulness-based cognitive hypnotherapy integrates mindfulness, cognitive-behavioral therapy, and hypnotherapy to improve physical, emotional, mental, and/or spiritual aspects of skin disorders. Medi...

Front-Line Treatment Options for Chronic-Phase Chronic Myeloid Leukemia.

Shah NP · Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2018

The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management cha...

Secondary erythromelalgia: a tryptophan dietary supplement-induced case associated with elevated 5-hydroxyindoleacetic acid (5HIAA) urinary levels.

Michelerio A, Derlino F, Brazzelli V , et al. · International journal of dermatology · 2018

Erythromelalgia.

Klein-Weigel PF, Volz TS, Richter JG · VASA. Zeitschrift fur Gefasskrankheiten · 2018

Erythromelalgia is a rare syndrome characterized by the intermittent or, less commonly, by the permanent occurrence of extremely painful hyperperfused skin areas mainly located in the distal extremiti...

Indomethacin-Responsive Idiopathic Red Ear Syndrome: Case Report and Pathophysiology.

Chan TLH, Becker WJ, Jog M · Headache · 2018

[Small fiber neuropathy].

Langlois V, Bedat Millet AL, Lebesnerais M , et al. · La Revue de medecine interne · 2018

Small fiber neuropathy (SFN) is still unknown. Characterised by neuropathic pain, it typically begins by burning feet, but could take many other expression. SFN affects the thinly myelinated Aδ and un...

An Atypical Erythromelalgia on the Chest.

Lee SH, Yoon HS, Yeom SD , et al. · Annals of dermatology · 2018

Chemical lumbar sympathectomy in the treatment of recalcitrant erythromelalgia.

Wang WH, Zhang L, Dong GX , et al. · Journal of vascular surgery · 2018

Erythromelalgia is highly disabling and treatment is often very challenging. There have been solitary case reports that it might benefit from sympathectomy. This study sought to evaluate the short-ter...

How a Simple Ankle Sprain Turned Into Neuropathic Pain: Complex Reflex Sympathetic Dystrophy Versus Erythromelalgia.

Lurati AR · Workplace health & safety · 2018

A 36-year-old woman sustained a Grade 2 ankle sprain at work. Two days after the injury, the ankle and foot became red and she complained of "intense burning pain." First diagnosed with complex reflex...

Thermoregulation in neuropathies.

Fealey RD · Handbook of clinical neurology · 2018

Peripheral neuropathy affecting autonomic and small sensory fibers can cause abnormalities of both autonomic and behavioral thermoregulation. Quantitative autonomic and sensory neurophysiologic tests...

Current pain management strategies for patients with erythromelalgia: a critical review.

Tham SW, Giles M · Journal of pain research · 2018

Erythromelalgia (EM) is a rare disorder characterized by erythematous, warm, painful extremities, which is often precipitated by cold conditions. The pathophysiology of EM is incompletely understood....

An elusive case of digital ischemia in a patient with Rheumatoid Arthritis.

Azam W, Erum U, Muhammad AJ · Pakistan journal of medical sciences · 2018

Essential thrombocytosis (ET) has rarely been reported with autoimmune rheumatic disorders. We report a case of young female, diagnosed case of Rheumatoid arthritis (RA), who had been overlooked for h...

Bone scan findings in erythromelalgia.

Willekens I, Vandecasteele SJ, Verhoeven K , et al. · Hellenic journal of nuclear medicine · 2018

The use of hyaluronic acid nanoshells has been proposed to encapsulate prodrugs and exploit the mechanisms of interactions between living cells, like endocytes or cancer cells and hyaluronic acid, whi...

Erythromelalgia: a cutaneous manifestation of neuropathy?

Leroux MB · Anais brasileiros de dermatologia · 2018

The low prevalence of erythromelalgia, classified as an orphan disease, poses diagnostic and therapeutic difficulties. The aim of this review is to be an update of the specialized bibliography. Erythr...

Cutaneous Manifestations of Chronic Vascular Disease.

Dean SM · Progress in cardiovascular diseases · 2018

In the contemporary era of medical diagnosis via sophisticated radiographic imaging and/or comprehensive serological testing, a focused physical examination remains paramount in recognizing the cutane...

[Pain management in children with erythromelalgia: case report].

Bortoli EI, Sakata RK · Brazilian journal of anesthesiology (Elsevier) · 2018

Erythromelalgia is a neuropathic pain syndrome due to an autosomal dominant gene, characterized by erythema, increased skin temperature and burning pain in hands and feet, whose treatment is often uns...

Translational Model Systems for Complex Sodium Channel Pathophysiology in Pain.

Schrenk-Siemens K, Rösseler C, Lampert A · Handbook of experimental pharmacology · 2018

Chronic pain patients are often left with insufficient treatment as the pathophysiology especially of neuropathic pain remains enigmatic. Recently, genetic variations in the genes of the voltage-gated...

Brain activity associated with pain in inherited erythromelalgia: stimulus-free pain engages brain areas involved in valuation and learning.

Geha P, Schulman BR, Dib-Hajj SD , et al. · Neurobiology of pain (Cambridge, Mass.) · 2018

Inherited erythromelalgia (IEM) is a chronic pain disorder caused by gain-of-function mutations of peripheral sodium channel Nav1.7, in which warmth triggers severe pain. Little is known about the bra...

Pain thresholds, supra-threshold pain and lidocaine sensitivity in patients with erythromelalgia, including the I848Tmutation in Na 1.7.

Helås T, Sagafos D, Kleggetveit IP , et al. · European journal of pain (London, England) · 2017

Nociceptive thresholds and supra-threshold pain ratings as well as their reduction upon local injection with lidocaine were compared between healthy subjects and patients with erythromelalgia (EM). Li...

Burning pain: axonal dysfunction in erythromelalgia.

Farrar MA, Lee MJ, Howells J , et al. · Pain · 2017

Erythromelalgia (EM) is a rare neurovascular disorder characterized by intermittent severe burning pain, erythema, and warmth in the extremities on heat stimuli. To investigate the underlying pathophy...

A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.

Ge W, Wei B, Zhu H , et al. · The International journal of neuroscience · 2017

Fabry disease is an X-linked genetic disorder caused by the mutations of α-galactosidase A (GLA, MIM 300644) gene presenting with various clinical symptoms including small-fiber peripheral neuropathy...

Erythromelalgia: Identification of a corticosteroid-responsive subset.

Pagani-Estévez GL, Sandroni P, Davis MD , et al. · Journal of the American Academy of Dermatology · 2017

Corticosteroids (CS) may benefit certain patients with erythromelalgia. Our objective was to determine clinical predictors of corticosteroid-responsive erythromelalgia. Patients with erythromelalgia w...

Erythromelalgia in patients with essential thrombocythemia and polycythemia vera.

Hou JL, Onajin O, Gangat N , et al. · Leukemia & lymphoma · 2017

[Erythromelalgia: Diagnosis and therapeutic approach].

Miranda S, Le Besnerais M, Langlois V , et al. · La Revue de medecine interne · 2017

Erythromelalgia is a rare intermittent vascular acrosyndrome characterized by the combination of recurrent burning pain, warmth and redness of the extremities. It is considered in its primary form as...

Gain-of-function mutation of a voltage-gated sodium channel Na1.7 associated with peripheral pain and impaired limb development.

Tanaka BS, Nguyen PT, Zhou EY , et al. · The Journal of biological chemistry · 2017

Dominant mutations in voltage-gated sodium channel Na1.7 cause inherited erythromelalgia, a debilitating pain disorder characterized by severe burning pain and redness of the distal extremities. Na1.7...

Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia.

Tham SW, Li L, Effraim P , et al. · BMJ case reports · 2017

Inherited erythromelalgia (IEM) is a well-described pain disorder caused by mutations of sodium channel Na1.7, a peripheral channel expressed within dorsal root ganglion and the sympathetic ganglion n...

Lumbar Sympathetic Pulsed Radiofrequency Treatment for Primary Erythromelalgia: A Case Report.

Lee JY, Sim WS, Kang RA , et al. · Pediatric dermatology · 2017

Erythromelalgia is often refractory and resistant to many forms of treatment. Numerous therapeutic options have been tried, but effective treatment remains elusive. The sympathetic nervous system has...

Network topology of NaV1.7 mutations in sodium channel-related painful disorders.

Kapetis D, Sassone J, Yang Y , et al. · BMC systems biology · 2017

Gain-of-function mutations in SCN9A gene that encodes the voltage-gated sodium channel NaV1.7 have been associated with a wide spectrum of painful syndromes in humans including inherited erythromelalg...

Buerger Test for Erythromelalgia Revisited.

Wright WF, Rajachandran M · The Journal of the American Osteopathic Association · 2017

Leo Buerger, MD, was the first to describe dependent rubor associated with marked atherosclerosis. Historically, dependent rubor has been described as erythromelalgia (or erythromelia), and terms such...

Epidermal Nerve Fiber Quantification in Patients With Erythromelalgia.

Mantyh WG, Dyck PJB, Dyck PJ , et al. · JAMA dermatology · 2017

Erythromelalgia is a clinical diagnosis based on intermittent warmth, erythema, and pain in the distal extremities. One problem facing physicians is how to objectively test for this disease. Given tha...

[Pain and analgesia : Mutations of voltage-gated sodium channels].

Eberhardt MJ, Leffler A · Schmerz (Berlin, Germany) · 2017

Voltage-gated sodium channels (Navs) are crucial for the generation and propagation of action potentials in all excitable cells, and therefore for the function of sensory neurons as well. Preclinical...

Erythromelalgia involving the face.

Gilmore RR, Applebaum DS, Parsons JL , et al. · Dermatology online journal · 2017

Erythromelalgia is a rare disorder characterized by burning pain, erythema, and increased temperature typically involving the distal extremities. Although it can progress to involve the face, erythrom...

Nonlinear effects of hyperpolarizing shifts in activation of mutant Na1.7 channels on resting membrane potential.

Estacion M, Waxman SG · Journal of neurophysiology · 2017

The Na1.7 sodium channel is preferentially expressed within dorsal root ganglion (DRG) and sympathetic ganglion neurons. Gain-of-function mutations that cause the painful disorder inherited erythromel...

Na1.7 as a pain target - From gene to pharmacology.

Vetter I, Deuis JR, Mueller A , et al. · Pharmacology & therapeutics · 2017

Characterisation of Nav1.7 functional expression in rat dorsal root ganglia neurons by using an electrical field stimulation assay.

Fouillet A, Watson JF, Piekarz AD , et al. · Molecular pain · 2017

Background The Na1.7 subtype of voltage-gated sodium channels is specifically expressed in sensory and sympathetic ganglia neurons where it plays an important role in the generation and transmission o...

A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7.

Wu B, Zhang Y, Tang H , et al. · Current molecular medicine · 2017

Primary erythromelalgia (PE) is a dominant inherited disorder characterized by recurrent pain, redness, and warmth of the extremities that is caused by gain-of-function mutations in Nav1.7 encoding ge...

A Unique Case for Spinal Cord Stimulation: Successful Treatment of Small Fiber Neuropathy Pain Using Multiple Spinal Cord Stimulators.

Eckmann M, Papanastassiou A, Awad M · Case reports in medicine · 2017

Spinal cord stimulators have commonly been used to treat multiple pain conditions. This case report represents a unique case of using multiple spinal cord stimulators for widespread small fiber neurop...

Complex management of a patient with refractory primary erythromelalgia lacking a mutation.

Low SA, Robbins W, Tawfik VL · Journal of pain research · 2017

A 41-year-old woman presented with burning and erythema in her extremities triggered by warmth and activity, which was relieved by applying ice. Extensive workup was consistent with adult-onset primar...

Clinical features and management of erythromelalgia: long term follow-up of 46 cases.

Parker LK, Ponte C, Howell KJ , et al. · Clinical and experimental rheumatology · 2017

To review our clinical experience of this rare condition and describe the clinical features and response to therapy in a cohort of patients with erythromelalgia (EM), a rare condition, characterised b...

The Biophysical Basis Underlying Gating Changes in the p.V1316A Mutant Nav1.7 Channel and the Molecular Pathogenesis of Inherited Erythromelalgia.

Huang CW, Lai HJ, Huang PY , et al. · PLoS biology · 2016

The Nav1.7 channel critically contributes to the excitability of sensory neurons, and gain-of-function mutations of this channel have been shown to cause inherited erythromelalgia (IEM) with neuropath...

Sex differences in the incidence of skin and skin-related diseases in Olmsted County, Minnesota, United States, and a comparison with other rates published worldwide.

Andersen LK, Davis MD · International journal of dermatology · 2016

Many skin and skin-related diseases affect the sexes unequally, with attendant implications for public health and resource allocation. To evaluate better the incidence of skin and skin-related disease...

[Diagnosis and treatment of polycythaemia vera: state of the art].

Marton I, Simon Z, Borbényi Z · Orvosi hetilap · 2016

Polycythaemia vera (PV), a condition characterized by blood hyperviscosity due to the expansion of the erythrocyte mass is the most common entity among all Philadelphia chromosome-negative myeloprolif...

Pathological nociceptors in two patients with erythromelalgia-like symptoms and rare genetic Nav 1.9 variants.

Kleggetveit IP, Schmidt R, Namer B , et al. · Brain and behavior · 2016

The sodium channel Nav 1.9 is expressed in peripheral nociceptors and has recently been linked to human pain conditions, but the exact role of Nav 1.9 for human nociceptor excitability is still unclea...

Small Fiber Neuropathy in Children: Two Case Reports Illustrating the Importance of Recognition.

Hoeijmakers JG, Faber CG, Miedema CJ , et al. · Pediatrics · 2016

Small fiber neuropathy (SFN) is a debilitating condition that often leads to pain and autonomic dysfunction. In the last few decades, SFN has been gaining more attention, particularly in adults. Howev...

Sodium channel slow inactivation interferes with open channel block.

Hampl M, Eberhardt E, O'Reilly AO , et al. · Scientific reports · 2016

Mutations in the voltage-gated sodium channel Nav1.7 are linked to inherited pain syndromes such as erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEPD). PEPD mutations impair Nav1.7 fast...

Secondary erythromelalgia successfully treated with patient-controlled epidural analgesia and interferon α-2b: A case report and review of the literature.

Li X, Li Y, Qu Y , et al. · Experimental and therapeutic medicine · 2016

Erythromelalgia (EM) is a debilitating neurovascular disease that is refractory to numerous treatment modalities. The present study reported the case of a 72-year-old woman diagnosed with EM secondary...

Erythromelalgia: a Red Neuralgia.

Wang CH, Lai TH · Acta neurologica Taiwanica · 2016

Red Ear Syndrome.

Raieli V, Compagno A, D'Amelio M · Current pain and headache reports · 2016

The Red Ear syndrome (RES) is an intriguing syndrome originally described for the first time nearly 20 years ago. RES is characterized by unilateral/bilateral episodes of pain and burning sensation of...

Pain: Blocking pain in inherited erythromelalgia.

Crunkhorn S · Nature reviews. Drug discovery · 2016

Pharmacotherapy for Pain in a Family With Inherited Erythromelalgia Guided by Genomic Analysis and Functional Profiling.

Geha P, Yang Y, Estacion M , et al. · JAMA neurology · 2016

There is a need for more effective pharmacotherapy for chronic pain, including pain in inherited erythromelalgia (IEM) in which gain-of-function mutations of sodium channel NaV1.7 make dorsal root gan...

Nav1.7-A1632G Mutation from a Family with Inherited Erythromelalgia: Enhanced Firing of Dorsal Root Ganglia Neurons Evoked by Thermal Stimuli.

Yang Y, Huang J, Mis MA , et al. · The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016

Voltage-gated sodium channel Nav1.7 is a central player in human pain. Mutations in Nav1.7 produce several pain syndromes, including inherited erythromelalgia (IEM), a disorder in which gain-of-functi...

Erythromelalgia as a manifestation of autonomic nervous system involvement in multiple sclerosis.

Adamec I, Lakoš Jukić I, Habek M · Multiple sclerosis and related disorders · 2016

Erythromelalgia is a rare condition characterized by burning pain, erythema and increased temperature of the hands or the feet. Its etiology is not completely understood but it is believed that the un...

Musculoskeletal manifestations of Fabry disease: A retrospective study.

Lidove O, Zeller V, Chicheportiche V , et al. · Joint bone spine · 2016

Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom is pain in th...

Erythromelalgia-like presentation of chronic acquired demyelinating polyneuropathy in a setting of past alcohol abuse.

Chuquilin M, Dhand UK · Neuromuscular disorders : NMD · 2016

Erythromelalgia may be primary or secondary to an underlying medical condition. Association with small fiber neuropathy and axonal large fiber peripheral neuropathy has been described. Erythromelalgia...

A case of secondary erythromelalgia with perivascular and intramural mucin.

Blake T, Mortimore R, De Ambrosis K · The Australasian journal of dermatology · 2016

We present a 49-year-old man with type I erythromelalgia, demonstrating a newly reported histological feature of striking perivascular mucin. There is a single previously reported case in the literatu...

Neuropathic and Myopathic Pain.

Rodrigues AC, Kang PB · Seminars in pediatric neurology · 2016

The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may...

Nicotinic acid treatment for Paralepistopsis acromelalga intoxication: assessment using magnetic resonance imaging.

Nakajima N, Ueda M · Clinical toxicology (Philadelphia, Pa.) · 2016

Paralepistopsis acromelalga, formerly known as Clitocybe acromelalga, is a rare poisonous mushroom. The mycotoxins in this mushroom cause symptoms resembling those of erythromelalgia; however, its pat...

Pharmacological reversal of a pain phenotype in iPSC-derived sensory neurons and patients with inherited erythromelalgia.

Cao L, McDonnell A, Nitzsche A , et al. · Science translational medicine · 2016

In common with other chronic pain conditions, there is an unmet clinical need in the treatment of inherited erythromelalgia (IEM). TheSCN9Agene encoding the sodium channel Nav1.7 expressed in the peri...

Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.

McDonnell A, Schulman B, Ali Z , et al. · Brain : a journal of neurology · 2016

Inherited erythromelalgia, the first human pain syndrome linked to voltage-gated sodium channels, is widely regarded as a genetic model of human pain. Because inherited erythromelalgia was linked to g...

Thoracic sympathectomy: a review of current indications.

Hashmonai M, Cameron AE, Licht PB , et al. · Surgical endoscopy · 2016

Thoracic sympathetic ablation was introduced over a century ago. While some of the early indications have become obsolete, new ones have emerged. Sympathetic ablation is being still performed for some...

[Erythromelalgia: an exceptional complication of rheumatoid arthritis].

Alaya Z, Osman W · The Pan African medical journal · 2016

Erythromelalgia in the pediatric patient: role of computed-tomography-guided lumbar sympathetic blockade.

Kundu A, Rafiq M, Warren PS , et al. · Journal of pain research · 2016

Erythromelalgia (EM) is an uncommon condition characterized by erythema, increased skin temperature, and burning pain, most frequently occurring in the lower extremities. The pain is generally very se...

SCN10A Mutation in a Patient with Erythromelalgia Enhances C-Fiber Activity Dependent Slowing.

Kist AM, Sagafos D, Rush AM , et al. · PloS one · 2016

Gain-of-function mutations in the tetrodotoxin (TTX) sensitive voltage-gated sodium channel (Nav) Nav1.7 have been identified as a key mechanism underlying chronic pain in inherited erythromelalgia. M...

Spinal Cord Stimulation for Treatment of Neuropathic Pain Associated With Erythromelalgia.

Matzke LL, Lamer TJ, Gazelka HM · Regional anesthesia and pain medicine · 2016

Erythromelalgia is a rare disorder associated with neuropathic pain that commonly affects the lower extremities. This pain is often refractory to multimodal treatment. Both pharmacologic management an...

Lidocaine-medicated plaster for treating acute autonomic and sensory neuropathy with erythromelalgia-like presentations.

Gales A, Chaaban B, Husson H , et al. · Revue neurologique · 2016

Primary erythromelalgia: a review.

Tang Z, Chen Z, Tang B , et al. · Orphanet journal of rare diseases · 2015

Primary erythromelalgia (PE ORPHA90026) is a rare autosomal dominant neuropathy characterized by the combination of recurrent burning pain, warmth and redness of the extremities. The incidence rate of...

Specific changes in conduction velocity recovery cycles of single nociceptors in a patient with erythromelalgia with the I848T gain-of-function mutation of Nav1.7.

Namer B, Ørstavik K, Schmidt R , et al. · Pain · 2015

Seven patients diagnosed with erythromelalgia (EM) were investigated by microneurography to record from unmyelinated nerve fibers in the peroneal nerve. Two patients had characterized variants of sodi...

Topically Applied Midodrine, 0.2%, an α1-Agonist, for the Treatment of Erythromelalgia.

Davis MD, Morr CS, Warndahl RA , et al. · JAMA dermatology · 2015

Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder.

Kim DT, Rossignol E, Najem K , et al. · Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2015

The SCN9A gene codes for the sodium voltage-gated channel NaV 1.7. Gain of function mutations cause pain disorders such as primary erythromelalgia, paroxysmal extreme pain disorder, and small fiber ne...

The Dermatological Manifestations of Postural Tachycardia Syndrome: A Review with Illustrated Cases.

Huang H, Hohler AD · American journal of clinical dermatology · 2015

Postural tachycardia syndrome (POTS) is a syndrome of excessive tachycardia with orthostatic challenge, and relief of such symptoms with recumbence. There are several proposed subtypes of the syndrome...

The Complexity of Pain Management in Patients with Erythromelalgia.

Patel N, Chen E, Cucchiaro G · A & A case reports · 2015

A 15-year-old girl diagnosed with erythromelalgia was admitted to the hospital with severe pain in her feet associated with burning, pruritus, erythema, and swelling. She had not responded to conventi...

Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.

Emery EC, Habib AM, Cox JJ , et al. · The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015

The importance of NaV1.7 (encoded by SCN9A) in the regulation of pain sensing is exemplified by the heterogeneity of clinical phenotypes associated with its mutation. Gain-of-function mutations are ty...

Sodium channel Nav1.7 in vascular myocytes, endothelium, and innervating axons in human skin.

Rice FL, Albrecht PJ, Wymer JP , et al. · Molecular pain · 2015

The skin is a morphologically complex organ that serves multiple complementary functions, including an important role in thermoregulation, which is mediated by a rich vasculature that is innervated by...

Raynaud’s phenomenon - assessment and differential diagnoses.

Linnemann B, Erbe M · VASA. Zeitschrift fur Gefasskrankheiten · 2015

Raynaud’s phenomenon (RP) is characterised by paroxysmal reversible episodes of vasospasm, usually involving peripheral small vessels of the fingers or toes and resulting in a triple-colour change sta...

A large temperature fluctuation may trigger an epidemic erythromelalgia outbreak in China.

Liu T, Zhang Y, Lin H , et al. · Scientific reports · 2015

Although erythromelalgia (EM) has been documented in the literature for almost 150 years, it is still poorly understood. To overcome this limitation, we examined the spatial distribution of epidemic E...

Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7.

Stadler T, O'Reilly AO, Lampert A · The Journal of biological chemistry · 2015

The human voltage-gated sodium channel Nav1.7 plays a crucial role in transmission of noxious stimuli. The inherited pain disorder erythromelalgia (IEM) has been linked to Nav1.7 gain-of-function muta...

Microneurographic recording from unmyelinated nerve fibers in neurological disorders: an update.

Donadio V, Liguori R · Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2015

Microneurography is a unique neurophysiological technique allowing direct recording of unmyelinated postganglionic sympathetic or afferent nociceptive fibers by tungsten needles inserted into a periph...

[Item 237 - UE 8 Acrosyndromes (Raynaud's phenomenon, erythermalgia, acrocyanosis, frostbite, digital ischemia)].

· Annales de dermatologie et de venereologie · 2015

Early detection of an epidemic erythromelalgia outbreak using Baidu search data.

Gu Y, Chen F, Liu T , et al. · Scientific reports · 2015

Dozens of epidemic erythromelalgia (EM) outbreaks have been reported in China since the mid-twentieth century, and the most recent happened in Foshan City, Guangdong Province early 2014. This study co...

Essential Thrombocythemia: The Dermatologic Point of View.

Cozzani E, Iurlo A, Merlo G , et al. · Clinical lymphoma, myeloma & leukemia · 2015

Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by an increase in blood platelets and dominated by a predisposition to vascular events. Cutaneous manifestations can compl...

Erythromelalgia with a linear pattern in a 12-year-old girl.

Huh S, Jung MK, Eun LY , et al. · Pediatrics international : official journal of the Japan Pediatric Society · 2015

Erythromelalgia is a rare clinical syndrome characterized by erythema, increased temperature, and severe burning pain that can be aggravated by warmth or relieved by cold. Erythromelalgia occurs eithe...

Clinico-Hematological Profile and Risk Stratification in Patients with Essential Thrombocythemia: Experience from Pakistan.

Sultan S, Irfan SM, Tanveer Q , et al. · Asian Pacific journal of cancer prevention : APJCP · 2015

Essential thrombocythemia (ET) is a Philadelphia chromosome-negative myeloproliferative neoplasm characterized by sustained thrombocytosis and megakaryocytic hyperplasia. It is an uncommon hematologic...

Dual Effect of Ziconotide in Primary Erythromelalgia.

Russo R, Caroleo MC, Cione E , et al. · Case reports in medicine · 2015

Erythromelalgia (EM) is a rare disabling clinical syndrome more commonly known to affect the lower extremities. There is no single effective treatment for this disease that often requires a multidisci...

[Diagnosis of vascular acrosyndromes].

Senet P · Annales de dermatologie et de venereologie · 2015

Vascular acrosyndromes are associated with vasomotor disorders. They may be paroxysmal, like Raynaud's phenomenon, whitening of the fingers on exposure to cold, or erythromelalgia, a painful form of e...

[Erythermalgia and type 1 diabetes: diagnosis and management issues. A case report].

Deghima S, Chabane W, Djorane H , et al. · Revue medicale de Bruxelles · 2015

Erythermalgia is a very rare acrosyndrome mainly characterized by lower limbs pain. It is either primitive or secondary. Concomittence of erythermalgia and diabetes is a coincidence and since the latt...

What are the treatment options for paroxysmal extreme pain disorder?

Suter MR · Pain management · 2015

Regulation of Nav1.7: A Conserved SCN9A Natural Antisense Transcript Expressed in Dorsal Root Ganglia.

Koenig J, Werdehausen R, Linley JE , et al. · PloS one · 2015

The Nav1.7 voltage-gated sodium channel, encoded by SCN9A, is critical for human pain perception yet the transcriptional and post-transcriptional mechanisms that regulate this gene are still incomplet...

Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.

Amarouch MY, Abriel H · Frontiers in physiology · 2015

Voltage-gated sodium channels (Nav) are widely expressed as macro-molecular complexes in both excitable and non-excitable tissues. In excitable tissues, the upstroke of the action potential is the res...

Burning feet in polycythemia vera - peripheral sensorimotor axonal neuropathy with erythromelalgia.

Wollina U · International journal of general medicine · 2015

Polycythemia vera is a rare myeloproliferative disease. Cutaneous symptoms are uncommon. We report about a 72-year-old female patient with JAK2(V617F) -positive polycythemia who developed peripheral s...

Aspirin-responsive, migraine-like transient cerebral and ocular ischemic attacks and erythromelalgia in JAK2-positive essential thrombocythemia and polycythemia vera.

Michiels JJ, Berneman Z, Gadisseur A , et al. · Acta haematologica · 2015

Migraine-like cerebral transient ischemic attacks (MIAs) and ocular ischemic manifestations were the main presenting features in 10 JAK2(V617F)-positive patients studied, with essential thrombocythemi...

[Primary erythromelalgia].

de la Guerra Acebal C, Labirua-Iturburu Ruiz A, Ibarmia Lahuerta J , et al. · Medicina clinica · 2014

Toxicological profiles of poisonous, edible, and medicinal mushrooms.

Jo WS, Hossain MA, Park SC · Mycobiology · 2014

Mushrooms are a recognized component of the human diet, with versatile medicinal properties. Some mushrooms are popular worldwide for their nutritional and therapeutic properties. However, some specie...

Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations.

Duchatelet S, Guibbal L, de Veer S , et al. · The British journal of dermatology · 2014

Erythromelalgia - A dramatic pain of genetic origin, revealing pain mechanisms with implications for neuropathic pain in general.

Breivik H · Scandinavian journal of pain · 2014

Exonic mutations in SCN9A (NaV1.7) are found in a minority of patients with erythromelalgia.

Zhang Z, Schmelz M, Segerdahl M , et al. · Scandinavian journal of pain · 2014

Background and aim "Gain-of-function" mutations in voltage-gated sodium channel NaV1.7 have been linked to erythromelalgia (EM), characterized by painful hot and red hands and feet. We investigated th...

Off-pump myocardial revascularization in a high-risk patient with essential thrombocythemia.

Darwazah AK, Madi H, Zagha R , et al. · Texas Heart Institute journal · 2014

Essential thrombocythemia is a rare type of myeloproliferative disorder. Cerebral, myocardial, and peripheral thrombosis are all frequent complications of the disease. A 71-year-old man presented with...

Interferon α-2b gains high sustained response therapy for advanced essential thrombocythemia and polycythemia vera with JAK2V617F positive mutation.

Huang BT, Zeng QC, Zhao WH , et al. · Leukemia research · 2014

This open-label, prospective, observational study aimed to evaluate treatment response, efficacy therapy and safety to IFN α-2b for the essential thrombocythemia (ET) and polycythemia vera (PV) with J...

Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels.

Cregg R, Cox JJ, Bennett DL , et al. · British journal of pharmacology · 2014

The non-selective sodium channel inhibitor mexiletine has been found to be effective in several animal models of chronic pain and has become popular in the clinical setting as an orally available alte...

Paroxysmal burning pain caused by erythromelalgia.

Kondo T, Uehara T, Ikegami A , et al. · Lancet (London, England) · 2014

[Differential diagnoses of Raynaud's phenomenon].

Ahrazoglu M, Moinzadeh P, Hunzelmann N · Deutsche medizinische Wochenschrift (1946) · 2014

Raynaud's phenomenon (RP) is characterized by repeated vasospastic attacks of the distal extremities induced by cold, humidity, vibrations or emotional stress. It typically presents a triphasic colour...

Erythema associated with pain and warmth on face and ears: a variant of erythermalgia or red ear syndrome?

Chen MC, Xu QF, Luo DQ , et al. · The journal of headache and pain · 2014

Erythermalgia is a rare cutaneous disorder characterized by attacking of erythema, pain and increased temperature, which primarily involves the extremities and may infrequently extend to the neck, fac...

[Inconsolable crying revealing primary erythermalgia in a 6-month-old infant].

Ahogo KC, Menet V, Modiano P , et al. · Archives de pediatrie : organe officiel de la Societe francaise de pediatrie · 2014

Erythermalgia is a peripheral vascular disease triggered by exposure to heat. The primary infantile form is rare. No cases have been described in infants. We report a case in a 6-month-old child revea...

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia.

Duchatelet S, Pruvost S, de Veer S , et al. · JAMA dermatology · 2014

Olmsted syndrome (OS) is a rare keratinizing disorder characterized by excessive epidermal thickening of the palms and soles, with clinical and genetic heterogeneity. Approximately 50 cases have been...

Painful neuropathies: the emerging role of sodium channelopathies.

Brouwer BA, Merkies IS, Gerrits MM , et al. · Journal of the peripheral nervous system : JPNS · 2014

Pain is a frequent debilitating feature reported in peripheral neuropathies with involvement of small nerve (Aδ and C) fibers. Voltage-gated sodium channels are responsible for the generation and cond...

Painful and painless channelopathies.

Bennett DL, Woods CG · The Lancet. Neurology · 2014

The discovery of genetic variants that substantially alter an individual's perception of pain has led to a step-change in our understanding of molecular events underlying the detection and transmissio...

Recurrent facial erythema with burning sensation and increased temperature: a variant of erythromelalgia or a new entity?

Luo DQ, Zhao YK, Xu QF , et al. · Pain medicine (Malden, Mass.) · 2014

Erythromelalgia is a rare clinical syndrome characterized by episodic attacks of burning pain, erythema, and increased temperature, primarily affecting the extremities, and in rare instances, involvin...

Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.

Eberhardt M, Nakajima J, Klinger AB , et al. · The Journal of biological chemistry · 2014

Inherited erythromelalgia (IEM) causes debilitating episodic neuropathic pain characterized by burning in the extremities. Inherited "paroxysmal extreme pain disorder" (PEPD) differs in its clinical p...

Hansen's disease associated with erythromelalgia mimicking Lupus erythematosus.

Damodar SS, Smitha P, Nirmal B , et al. · Indian dermatology online journal · 2014

Hansen's disease, though considered to be at the verge of elimination in many countries including India, still continues to surprise patients and dermatologists alike. This is mainly due to its varyin...

An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.

Meijer IA, Vanasse M, Nizard S , et al. · Muscle & nerve · 2014

Erythromelalgia due to heterozygous gain-of-function SCN9A mutations usually presents as a pure sensory-autonomic disorder characterized by recurrent episodes of burning pain and redness of the extrem...

An Egyptian child with erythromelalgia responding to a new line of treatment: a case report and review of the literature.

Al-Minshawy SM, El-Mazary AA · Journal of medical case reports · 2014

Erythromelalgia is a rare clinical syndrome characterized by episodic erythema, warmth and intense burning pain, which commonly involves the extremities. For those affected, this disorder may lead to...

[A case of primary erythromelalgia successfully treated with high-dose intravenous immunoglobulin therapy].

Kuroda T, Sugimoto A, Ishigaki S , et al. · Brain and nerve = Shinkei kenkyu no shinpo · 2014

Erythromelalgia is a rare condition characterized by constant or paroxysmal burning pain, erythema, and the elevation of skin temperature in the extremities. Recently, the impairment of C-fiber functi...

Facial erythromelalgia: a rare entity to consider in the differential diagnosis of connective tissue diseases.

Patel M, Femia AN, Eastham AB , et al. · Journal of the American Academy of Dermatology · 2014

The clinical approach to small fibre neuropathy and painful channelopathy.

Themistocleous AC, Ramirez JD, Serra J , et al. · Practical neurology · 2014

Small fibre neuropathy (SFN) is characterised by structural injury selectively affecting small diameter sensory and/or autonomic axons. The clinical presentation is dominated by pain. SFN complicates...

Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H.

Vasylyev DV, Han C, Zhao P , et al. · Journal of neurophysiology · 2014

The link between sodium channel Nav1.7 and pain has been strengthened by identification of gain-of-function mutations in patients with inherited erythromelalgia (IEM), a genetic model of neuropathic p...

Breast cancer presenting as paraneoplastic erythroderma: an extremely rare case.

Protopsaltis I, Drossou A, Katsantonis I , et al. · Case reports in medicine · 2014

The skin may exhibit the first clinical evidence of a systemic disease and may provide the first clues to a diagnosis in malignancies. Erythroderma is defined as generalized redness and scaling and it...

Therapeutic success with local botulinum toxin in erythromelalgia.

da Costa AF, Meireles J, Festas MJ , et al. · Pain physician · 2014

Differential axonal conduction patterns of mechano-sensitive and mechano-insensitive nociceptors--a combined experimental and modelling study.

Petersson ME, Obreja O, Lampert A , et al. · PloS one · 2014

Cutaneous pain sensations are mediated largely by C-nociceptors consisting of both mechano-sensitive (CM) and mechano-insensitive (CMi) fibres that can be distinguished from one another according to t...

Subcutaneous panniculitis like T cell lymphoma associated with erythromelalgia.

Thomas J, Maramattom BV, Kuruvilla PM , et al. · Journal of postgraduate medicine · 2014

Erythromelalgia is a rare disorder that simulates a small fiber neuropathy and patients often have painful erythematous extremities during episodes. It is of two types: A primary or inherited form tha...

Altered sodium channel gating as molecular basis for pain: contribution of activation, inactivation, and resurgent currents.

Lampert A, Eberhardt M, Waxman SG · Handbook of experimental pharmacology · 2014

Mutations in voltage-gated sodium channels, especially Nav1.7, can cause the genetic pain syndromes inherited erythromelalgia, small fiber neuropathy, paroxysmal extreme pain disorder, and chronic ins...

Small-fibre neuropathies and skin: news and perspectives for dermatologists.

Misery L, Bodere C, Genestet S , et al. · European journal of dermatology : EJD · 2014

Small-fibre neuropathies (SFNs) can be defined as diseases of small nerve fibres. Because their symptoms are mainly located in the skin in the initial stages, dermatologists may frequently be confront...

Differential effect of D623N variant and wild-type Na(v)1.7 sodium channels on resting potential and interspike membrane potential of dorsal root ganglion neurons.

Ahn HS, Vasylyev DV, Estacion M , et al. · Brain research · 2013

Sodium channel NaV1.7 is preferentially expressed in dorsal root ganglion (DRG) and sympathetic ganglion neurons. Gain-of-function NaV1.7 mutations/variants have been identified in the painful disorde...

Essential thrombocythaemia: a single institution experience of 16 years.

Varghese SJ, Bahey El Din M, Al Hendi M , et al. · Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2013

This presentation is a clinical narrative and long term follow up (6-16 years) of 21 prospectively studied patients with essential thrombocythaemia (ET) in Kuwait. The median age (55.9 years) is young...

[Case of erythermalgia].

Zhen HP · Zhongguo zhen jiu = Chinese acupuncture & moxibustion · 2013

[Chronic pain and regional anesthesia in children].

Dadure C, Marec P, Veyckemans F , et al. · Archives de pediatrie : organe officiel de la Societe francaise de pediatrie · 2013

Chronic pain is usually underestimated in children, due to lack of knowledge and its specific signs. In addition to suffering, chronic pain causes a physical, psychological, emotional, social, and fin...

Intractable erythromelalgia of the lower extremities successfully treated with lumbar sympathetic block.

Cerci FB, Kapural L, Yosipovitch G · Journal of the American Academy of Dermatology · 2013

Persistent genital arousal and restless genitalia: sexual dysfunction or subtype of vulvodynia?

Markos AR, Dinsmore W · International journal of STD & AIDS · 2013

We conducted a literature review of patients' conditions described under persistent genital arousal disorder and restless genital syndrome, vulvodynia and male genital skin pain of unknown aetiology (...

Molecular architecture of a sodium channel S6 helix: radial tuning of the voltage-gated sodium channel 1.7 activation gate.

Yang Y, Estacion M, Dib-Hajj SD , et al. · The Journal of biological chemistry · 2013

In-frame deletion mutation (Del-L955) in NaV1.7 sodium channel from a kindred with erythromelalgia hyperpolarizes activation. Del-L955 twists the S6 helix, displacing the Phe960 activation gate. Repla...

Effectiveness of botulinum toxin A in treatment of refractory erythromelalgia.

Lin KH, Wang SJ, Fuh JL , et al. · Journal of the Chinese Medical Association : JCMA · 2013

Erythromelalgia is characterized by intense burning pain, erythema, and heat in affected areas after precipitating factors such as warm temperature or stress. It is refractory to treatment in some sit...

Topical amitriptyline combined with ketamine for the treatment of erythromelalgia: a retrospective study of 36 patients at Mayo Clinic.

Poterucha TJ, Weiss WT, Warndahl RA , et al. · Journal of drugs in dermatology : JDD · 2013

Erythromelalgia is an uncommon neurovascular disorder characterized by redness, increased skin temperature, and pain that usually occurs in the extremities. Treatment remains challenging because of it...

A new Nav1.7 mutation in an erythromelalgia patient.

Estacion M, Yang Y, Dib-Hajj SD , et al. · Biochemical and biophysical research communications · 2013

Gain-of-function missense mutations of SCN9A gene, which encodes voltage-gated sodium channel Nav1.7, alter channel's biophysical properties causing painful disorders which are refractory to pharmacot...

Erythromelalgia associated with Clitocybe acromelalga intoxication.

Nakajima N, Ueda M, Higashi N , et al. · Clinical toxicology (Philadelphia, Pa.) · 2013

Erythromelalgia is a rare disorder characterized by reddening, severe burning pain, and swelling of the extremities. Food poisoning by Clitocybe acromelalga, a poisonous mushroom, is known to induce e...

A case of secondary erythromelalgia with unusual histological findings.

Bakkour W, Motta L, Stewart E · The American Journal of dermatopathology · 2013

Erythromelalgia clinically presents with episodic burning, erythema, and warmth of acral sites. It can be divided into primary and secondary associated with myeloproliferative and autoimmune condition...

Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.

Cregg R, Laguda B, Werdehausen R , et al. · Neuromolecular medicine · 2013

We identified and clinically investigated two patients with primary erythromelalgia mutations (PEM), which are the first reported to map to the fourth domain of Nav1.7 (DIV). The identified mutations...

JAK2 V617F negative essential thrombocythemia.

Kashif AW, Aggarwal S, Verma T , et al. · Medical journal, Armed Forces India · 2013

Secondary erythromelalgia - a case report -.

Kang BC, Nam DJ, Ahn EK , et al. · The Korean journal of pain · 2013

Erythromelalgia is a rare neurovascular pain syndrome characterized by a triad of redness, increased temperature, and burning pain primarily in the extremities. Erythromelalgia can present as a primar...

Immersion foot associated with the overuse of ice, cold water, and fans: a distinctive clinical presentation complicating the syndrome of erythromelalgia.

Davis MD · Journal of the American Academy of Dermatology · 2013

Painful Na-channelopathies: an expanding universe.

Waxman SG · Trends in molecular medicine · 2013

The universe of painful Na-channelopathies--human disorders caused by mutations in voltage-gated sodium channels--has recently expanded in three dimensions. We now know that mutations of sodium channe...

Postcoital generalised pruritus as a first symptom of polycythaemia vera.

Patidar OP, Patidar R, Patidar RP · Journal of the Indian Medical Association · 2013

Ploycythaemia vera (PV) is most common of chronic myeloproliferative disorder that involves the multipotent haemaotopoietic progenitor cells. PV has indolent course and recognised either by incidental...

Auricular erythromelalgia: report of a rare case.

Messeguer F, Agusti-Mejias A, Vilata Corell JJ , et al. · Dermatology online journal · 2013

Erythromelalgia is a rare disorder characterized by 3 major symptoms: warmth, redness, and burning pain. It involves the feet and, to a lesser extent, the hands, head, and ears. We report the case of...

[Neuropathic pain associated with Nav1.7 mutations: clinical picture and treatment].

Doppler K, Sommer C · Der Nervenarzt · 2013

Voltage-gated sodium channels are essential for electrogenesis in excitable cells. The isoform Nav1.7 is primarily expressed in nociceptors. Mutations of the SCN9A gene, which codes for the α-subunit...

Response of primary erythromelalgia to pregabalin therapy.

Kalava K, Roberts C, Adair JD , et al. · Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases · 2013

Evidence of small-fiber polyneuropathy in unexplained, juvenile-onset, widespread pain syndromes.

Oaklander AL, Klein MM · Pediatrics · 2013

We tested the hypothesis that acquired small-fiber polyneuropathy (SFPN), previously uncharacterized in children, contributes to unexplained pediatric widespread pain syndromes. Forty-one consecutive...

[Primary familial erythromelalgia. A case report].

Bouyahyaoui Y, Meziane M, Hanaae Z , et al. · Archives de pediatrie : organe officiel de la Societe francaise de pediatrie · 2013

Erythromelalgia is a rare disease whose etiology is poorly understood. It is characterized by paroxysmal attacks of erythema, pain, and warmth of the extremities and can be primary or secondary. We re...

Autonomic dysfunction in SCN9A-associated primary erythromelalgia.

Kim MK, Yuk JW, Kim HS , et al. · Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2013

Primary erythromelalgia (EM) is an autosomal dominant disorder caused by mutations of SCN9A. It is clinically characterized by reddish discoloration and episodic burning sensation of distal extremitie...

Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.

Klein CJ, Wu Y, Kilfoyle DH , et al. · Journal of neurology, neurosurgery, and psychiatry · 2013

Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibr...

Therapeutic potential of nicotinic acid in erythromelalgia associated with Clitocybe acromelalga intoxication.

Nakajima N, Ueda M, Higashi N , et al. · Clinical toxicology (Philadelphia, Pa.) · 2013

Nicotinic acid in erythromelalgia associated with Clitocybe acromelalga intoxication: theories and therapy.

Senthilkumaran S, Menezes RG, Jena NN , et al. · Clinical toxicology (Philadelphia, Pa.) · 2013

Erythromelalgia? A clinical study of people who experience red, hot, painful feet in the community.

Friberg D, Chen T, Tarr G , et al. · International journal of vascular medicine · 2013

We recruited a population of people who clinically suffer from the symptoms of erythromelalgia, red, hot, painful feet made worse by heat and improved by cooling, to better characterise this populatio...

A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers.

Wu MT, Huang PY, Yen CT , et al. · PloS one · 2013

Primary erythromelalgia (PE) is an autosomal dominant neurological disorder characterized by severe burning pain and erythema in the extremities upon heat stimuli or exercise. Mutations in human SCN9A...

Localized secondary erythromelalgia in an 11-year-old boy.

Wu HH, Wang MJ, Luo DQ , et al. · Pediatric dermatology · 2013

We report an 11-year-old boy with localized secondary erythromelalgia on his left medial thigh. The episodes responded well to indomethacin and prednisone but recurred after the medications were stopp...

Successful treatment of adult-onset erythromelalgia with steroid pulse and pregabalin.

Kakizaki A, Fujimura T, Kambayashi Y , et al. · Case reports in dermatology · 2012

Adult-onset erythromelalgia (EM) is a rare disease characterized by episodic bouts of burning pain and erythema for which the optimal therapy is unclear. In this report, we describe a 68-year-old Japa...

Primary erythromelalgia in a 12-year-old boy: positive response to sodium channel blockers despite negative SCN9A mutations.

Jakob A, Creutzfeldt R, Staszewski O , et al. · Klinische Padiatrie · 2012

Erythromelalgia is a rare disorder characterized by recurrent pain attacks, swelling and redness in the distal extremities. The primary forms of the disorder are caused by mutations in voltage-gated s...

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics.

Goldberg YP, Pimstone SN, Namdari R , et al. · Clinical genetics · 2012

We have utilized a novel application of human genetics, illuminating the important role that rare genetic disorders can play in the development of novel drugs that may be of relevance for the treatmen...

Expression of Nav1.7 in DRG neurons extends from peripheral terminals in the skin to central preterminal branches and terminals in the dorsal horn.

Black JA, Frézel N, Dib-Hajj SD , et al. · Molecular pain · 2012

Sodium channel Nav1.7 has emerged as a target of considerable interest in pain research, since loss-of-function mutations in SCN9A, the gene that encodes Nav1.7, are associated with a syndrome of cong...

[Metanephric adenoma of the kidney associated with polycythemia and erythromelalgia: report of one case].

Zambrano N, Vivaldi B, Espinoza R · Revista medica de Chile · 2012

We report a 21-year-old male, presenting with erythromelalgia and polycythemia. A solid renal mass of the lower pole of the right kidney was discovered. The patient was subjected to a right open parti...

Erythromelalgia and livedo reticularis in a patient with essential thrombocythemia, acquired von Willebrand disease, and elevated anti-phospholipid antibodies.

Gambichler T, Matip R · Annals of dermatology · 2012

Essential thrombocythemia (ET) is a clonal stem cell disease characterized by isolated thrombocytosis and thrombohemorrhagic complications. We describe an unusual case of ET primarily presenting with...

'Hot feet - hot brain': gene and brain dysfunction in erythromelalgia.

Borsook D · Pain · 2012

Imaging the neural correlates of neuropathic pain and pleasurable relief associated with inherited erythromelalgia in a single subject with quantitative arterial spin labelling.

Segerdahl AR, Xie J, Paterson K , et al. · Pain · 2012

We identified a patient with severe inherited erythromelalgia secondary to an L858F mutation in the voltage-gated sodium channel Na(v)1.7. The patient reported severe ongoing foot pain, which was exqu...

Pediatric erythromelalgia: a retrospective review of 32 cases evaluated at Mayo Clinic over a 37-year period.

Cook-Norris RH, Tollefson MM, Cruz-Inigo AE , et al. · Journal of the American Academy of Dermatology · 2012

Erythromelalgia has not been well characterized in the pediatric population. We sought to review our experience of erythromelalgia in the pediatric age group. We conducted a retrospective review of pa...

Results of computer-assisted sensory evaluation in 41 patients with erythromelalgia.

Genebriera J, Michaels JD, Sandroni P , et al. · Clinical and experimental dermatology · 2012

Erythromelalgia is a rare disorder characterized by the clinical syndrome of burning pain, warmth and redness of the limbs. Neurological abnormalities (both large- and small-fibre neuropathy) are comm...

Paraneoplastic erythromelalgia associated with breast carcinoma.

Han JH, Lee JB, Kim SJ , et al. · International journal of dermatology · 2012

Secondary erythromelalgia successfully treated with intravenous immunoglobulin.

Moody S, Pacheco S, Butler IJ , et al. · Journal of child neurology · 2012

Erythromelalgia is a rare condition characterized by episodic painful erythema and warmth often affecting, but not limited to, the distal extremities. This condition is notoriously difficult to treat....

Erythromelalgia: Incidence and clinical experience in a single centre in Sweden.

Alhadad A, Wollmer P, Svensson A , et al. · VASA. Zeitschrift fur Gefasskrankheiten · 2012

Erythromelalgia (EM) incidence has not been well studied and there are only two studies published on this subject as far as we know. The aims are to study the incidence of this rare condition in the s...

Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker.

Goldberg YP, Price N, Namdari R , et al. · Pain · 2012

Mutations in the SCN9A gene leading to deficiency of its protein product, Na(v)1.7, cause congenital indifference to pain (CIP). CIP is characterized by the absence of the ability to sense pain associ...

A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia.

Vargas-Alarcon G, Alvarez-Leon E, Fragoso JM , et al. · BMC musculoskeletal disorders · 2012

A consistent line of investigation suggests that autonomic nervous system dysfunction may explain the multi-system features of fibromyalgia (FM); and that FM is a sympathetically maintained neuropathi...

Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.

Skeik N, Rooke TW, Davis MD , et al. · Vascular medicine (London, England) · 2012

Erythromelalgia is a rare clinical syndrome characterized by intermittent heat, redness, swelling and pain more commonly affecting the lower extremities. Symptoms are mostly aggravated by warmth and a...

Pain disorders and erythromelalgia caused by voltage-gated sodium channel mutations.

Dabby R · Current neurology and neuroscience reports · 2012

Voltage-gated sodium channels play a pivotal role in pain transmission. They are widely expressed in nociceptive neurons, and participate in the generation of action potentials. Alteration in ionic co...

Paediatric hypertension-associated erythromelalgia responds to corticosteroids and is not associated with SCN9A mutations.

Morales PS, Escobar RG, Lizama M , et al. · Rheumatology (Oxford, England) · 2012

Extreme thrombocytosis and cardiovascular surgery: risks and management.

Natelson EA · Texas Heart Institute journal · 2012

Extreme thrombocytosis is a major risk factor for excessive bleeding and for thrombosis, either of which can complicate cardiovascular surgical and interventional procedures. Extreme thrombocytosis ca...

Erythromelalgia presenting with premature exfoliation of primary teeth: a diagnostic dilemma.

Prabhu N, Alexander S, Wong P , et al. · Pediatric dentistry · 2012

Erythromelalgia is an extremely rare neurovascular disorder, characterized by symptoms of red, hot, and painful extremities. There is considerable confusion regarding the etiology and pathogenesis of...

Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.

Yang Y, Dib-Hajj SD, Zhang J , et al. · Nature communications · 2012

Sodium channel Na(V)1.7 is critical for human pain signalling. Gain-of-function mutations produce pain syndromes including inherited erythromelalgia, which is usually resistant to pharmacotherapy, but...

Pediatric-isolated auricular erythromelalgia: a case report.

Grandy K, Corsten G, Hong P · Case reports in pediatrics · 2012

Erythromelalgia is a rare disorder that typically affects the skin of the feet, hands, or both, that is characterized by red skin, warmth, and a burning quality of pain. It usually affects both sides...

Erythromelalgia: an uncommon presentation precipitated by aspirin withdrawal.

Khalid F, Hassan S, Qureshi S , et al. · Case reports in medicine · 2012

Erythromelalgia is a rare disorder frequently associated with myeloproliferative disorders. We describe a case of elderly patient diagnosed with myeloproliferative disorder in remission. The patient w...

Genome sequence of erythromelalgia-related poxvirus identifies it as an ectromelia virus strain.

Mendez-Rios JD, Martens CA, Bruno DP , et al. · PloS one · 2012

Erythromelagia is a condition characterized by attacks of burning pain and inflammation in the extremeties. An epidemic form of this syndrome occurs in secondary students in rural China and a virus re...

[Paraneoplastic rheumatic syndromes].

Gracia-Ramos AE, Vera-Lastra OL · Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) · 2012

Paraneoplastic rheumatic syndromes are defined as those events associated with cancer that occur away from the primary tumor or its metastases and are induced by the presence of the tumor through biol...

Primary erythromelalgia with severe ulcers and successful ulcer treatment with sorbalgon.

Yi Q, Wang T, Jiang X · European journal of dermatology : EJD · 2012

News on ion channels: erythromelalgia, treatment of episodic ataxia and faciobrachial dystonic seizures.

Strupp M · Journal of neurology · 2011

Erythromelalgia presenting after neurosurgical intervention in a patient with multiple malformations of the spinal cord.

Mosel DD, Rosler D · Journal of the American Academy of Dermatology · 2011

Inhibition of Navβ4 peptide-mediated resurgent sodium currents in Nav1.7 channels by carbamazepine, riluzole, and anandamide.

Theile JW, Cummins TR · Molecular pharmacology · 2011

Paroxysmal extreme pain disorder (PEPD) and inherited erythromelalgia (IEM) are inherited pain syndromes arising from different sets of gain-of-function mutations in the sensory neuronal sodium channe...

Neoplastic and paraneoplastic vasculitis, vasculopathy, and hypercoagulability.

Park HJ, Ranganathan P · Rheumatic diseases clinics of North America · 2011

It is essential to be aware of both neoplastic and paraneoplastic vasculitides, vasculopathy, and hypercoagulability, considering the importance of an accurate diagnosis and timely treatment of the un...

Primary erythromelalgia with leukonychia combined with ulcerations and infection by Monilia guilliermondii.

Yuan Z, He C · The Kaohsiung journal of medical sciences · 2011

An 8-year-old girl presented with recurrent redness, warming, and pain of the lower extremities for more than 4 years, with exacerbation and accompanying swelling for the past 1 year and ulcers for 1...

A 10-year-old boy with severe pain in the toes. Diagnosis: erythromelalgia.

Faddoul D · Pediatric annals · 2011

Nonspecific capillary proliferation and vasculopathy indicate skin hypoxia in erythromelalgia.

Kalgaard OM, Clausen OP, Mellbye OJ , et al. · Archives of dermatology · 2011

To report on the histopathologic findings of affected skin in consecutively collected biopsy specimens from 49 patients with erythromelalgia (EM). Skin biopsy specimens were obtained from the foot arc...

Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.

Cheng X, Dib-Hajj SD, Tyrrell L , et al. · Brain : a journal of neurology · 2011

Gain-of-function missense mutations of voltage-gated sodium channel Na(V)1.7 have been linked to the painful disorder inherited erythromelalgia. These mutations hyperpolarize activation, slow deactiva...

Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.

Dabby R, Sadeh M, Gilad R , et al. · Journal of the neurological sciences · 2011

Gain-of-function mutations in the SCN9A gene (encoding to NaV1.7 voltage-gated sodium channel) cause two rare paroxysmal pain disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain dis...

Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.

Theile JW, Jarecki BW, Piekarz AD , et al. · The Journal of physiology · 2011

Abnormal pain sensitivity associated with inherited and acquired pain disorders occurs through increased excitability of peripheral sensory neurons in part due to changes in the properties of voltage-...

Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.

Estacion M, Han C, Choi JS , et al. · Molecular pain · 2011

Sodium channel NaV1.7 is preferentially expressed within dorsal root ganglia (DRG), trigeminal ganglia and sympathetic ganglion neurons and their fine-diamter axons, where it acts as a threshold chann...

Kinetic modeling of Nav1.7 provides insight into erythromelalgia-associated F1449V mutation.

Gurkiewicz M, Korngreen A, Waxman SG , et al. · Journal of neurophysiology · 2011

Gain-of-function mutations of the voltage-gated sodium channel (VGSC) Na(v)1.7 have been linked to human pain disorders. The mutation F1449V, located at the intracellular end of transmembrane helix S6...

Erythema and burning pain in the vulva: a possible phenotype of erythromelalgia.

Johnson E, Iyer P, Eanes A , et al. · Case reports in medicine · 2011

We report a case of burning vulvar pain accompanied by erythema responding to an oral combination of a benzodiazepine and a beta blocker. The positive response to two medication classes used in the tr...

Primary erythromelalgia: case report.

Albuquerque LG, França ER, Kozmhinsky V , et al. · Anais brasileiros de dermatologia · 2011

Erythromelalgia is a rare clinical syndrome characterized by heat, redness and intermittent pain in the extremities, being most frequent the bilateral development in the lower extremities. Local cooli...

Refractory erythromelalgia of the ears: response to mexiletine.

Vivas AC, Escandon J, Kirsner RS · American journal of otolaryngology · 2011

Erythromelalgia is a rare condition characterized by burning pain, erythema, swelling, and increased temperature usually in the extremities. We present an unusual presentation of erythromelalgia of th...

Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.

Cox JJ, Sheynin J, Shorer Z , et al. · Human mutation · 2010

SCN9Aencodes the voltage-gated sodium channel Na(v)1.7, a protein highly expressed in pain-sensing neurons. Mutations in SCN9A cause three human pain disorders: bi-allelic loss of function mutations r...

Images in clinical medicine. A white hand and a red hand—erythromelalgia.

Lipsker D · The New England journal of medicine · 2010

A new Nav1.7 sodium channel mutation I234T in a child with severe pain.

Ahn HS, Dib-Hajj SD, Cox JJ , et al. · European journal of pain (London, England) · 2010

Dominant gain-of-function mutations that hyperpolarize activation of the Na(v)1.7 sodium channel have been linked to inherited erythromelalgia (IEM), a disorder characterized by severe pain and rednes...

A case of erythromelalgia: good response to treatment with gabapentin.

Ceyhan AM, Gurses I, Yildirim M , et al. · Journal of drugs in dermatology : JDD · 2010

Erythromelalgia is a rare chronic disorder characterized by intense burning pain, redness, swelling and increased skin temperature. It occurs primarily in the feet, but may also involve the hands, fac...

Pain perception is altered by a nucleotide polymorphism in SCN9A.

Reimann F, Cox JJ, Belfer I , et al. · Proceedings of the National Academy of Sciences of the United States of America · 2010

The gene SCN9A is responsible for three human pain disorders. Nonsense mutations cause a complete absence of pain, whereas activating mutations cause severe episodic pain in paroxysmal extreme pain di...

Sympathetic block for treating primary erythromelalgia.

Bang YJ, Yeo JS, Kim SO , et al. · The Korean journal of pain · 2010

Primary erythromelalgia is a rare condition that's characterized by erythema, an increased skin temperature and burning pain in the extremities. The pain is often very severe, and treating erythromela...

Erythromelalgia: a novel postoperative complication.

Beals TC, Swallow NC, Jensen A · Foot & ankle international · 2010

Effects of ranolazine on wild-type and mutant hNav1.7 channels and on DRG neuron excitability.

Estacion M, Waxman SG, Dib-Hajj SD · Molecular pain · 2010

A direct role of sodium channels in pain has recently been confirmed by establishing a monogenic link between SCN9A, the gene which encodes sodium channel Nav1.7, and pain disorders in humans, with ga...

Erythromelalgia: a rare microvascular disease.

Latessa V · Journal of vascular nursing : official publication of the Society for Peripheral Vascular Nursing · 2010

Erythromelalgia (EM) is a rare condition of unknown etiology that results in intense, burning pain and redness primarily of the feet, and, even more rarely, in the hands. Most cases are idiopathic (pr...

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.

Choi JS, Cheng X, Foster E , et al. · Brain : a journal of neurology · 2010

The Na(v)1.7 sodium channel is preferentially expressed in nocioceptive dorsal root ganglion and sympathetic ganglion neurons. Gain-of-function mutations in Na(v)1.7 produce the nocioceptor hyperexcit...

Can robots patch-clamp as well as humans? Characterization of a novel sodium channel mutation.

Estacion M, Choi JS, Eastman EM , et al. · The Journal of physiology · 2010

Ion channel missense mutations cause disorders of excitability by changing channel biophysical properties. As an increasing number of new naturally occurring mutations have been identified, and the nu...

No mutations in the voltage-gated NaV1.7 sodium channel alpha1 subunit gene SCN9A in familial complex regional pain syndrome.

de Rooij AM, Gosso MF, Alsina-Sanchis E , et al. · European journal of neurology · 2010

Mutations in the voltage-gated Na(V)1.7 Na(+) channel alpha1 gene SCN9A have been linked to pain disorders, such as inherited primary erythromelalgia and paroxysmal extreme pain disorder. Both show cl...

Familial pain syndromes from mutations of the NaV1.7 sodium channel.

Fischer TZ, Waxman SG · Annals of the New York Academy of Sciences · 2010

The literature currently suggests that voltage-gated sodium channels play a major role in the pathogenesis of neuropathic pain. Alterations in the expression and targeting of specific sodium channels...

Microneurographic findings of relevance to pain in patients with erythromelalgia and patients with diabetic neuropathy.

Orstavik K, Jørum E · Neuroscience letters · 2010

Mechanisms responsible for neuropathic pain are still unclear. By using microneurography we have been able to record from single C-nociceptive and sympathetic fibers in patients and attempted to uncov...

[Differential diagnosis of CRPS from a dermatologist's viewpoint].

Büchner S · Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V... · 2010

Because of clinical similarities many dermatological diseases must be differentiated from both the acute and chronic phases of the complex regional pain syndrome (CRPS). The differential diagnosis of...

Functional vascular diseases: Raynaud's syndrome, acrocyanosis and erythromelalgia.

Heidrich H · VASA. Zeitschrift fur Gefasskrankheiten · 2010

Raynauds syndrome, acrocyanosis and erythromelalgia are functional vascular diseases that differ with respect to prevalence, clinical picture, therapy, prognosis, and impairment of quality of life. Ra...

Massage therapy techniques as pain management for erythromelalgia: a case report.

Dicks K, Rizek P · International journal of therapeutic massage & bodywork · 2010

Erythromelalgia is characterized by temperature-dependent redness, pain, and warmth in one or more extremities. It may be a primary disease, or it may occur secondarily because of underlying illness....

Macrovascular arteriovenous shunts (MAS): a newly identified structure in the abdominal wall with implications for thermoregulation and free tissue transfer.

Rozen WM, Chubb D, Ashton MW , et al. · Journal of plastic, reconstructive & aesthetic surgery : JPRAS · 2010

Microscopic arteriovenous anastomoses are known structures that have many clinical implications, with disease states such as Reynaud's phenomenon and erythromelalgia known consequences of their abnorm...

Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders.

Cheng X, Dib-Hajj SD, Tyrrell L , et al. · Molecular pain · 2010

Two groups of gain-of-function mutations in sodium channel NaV1.7, which are expressed in dorsal root ganglion (DRG) neurons, produce two clinically-distinct pain syndromes - inherited erythromelalgia...

Paraneoplastic vasculitis and paraneoplastic vascular syndromes.

Buggiani G, Krysenka A, Grazzini M , et al. · Dermatologic therapy · 2010

Paraneoplastic syndromes are localized or diffuse pathologic manifestations that may occur in subjects affected by neoplastic diseases, even occult ones. Among the many clinical manifestations of para...

Long-term remission of primary erythermalgia with R1150W polymorphism in SCN9A after chemical lumbar sympathectomy.

Zhang L, Wang WH, Li LF , et al. · European journal of dermatology : EJD · 2010

Primary erythermalgia (PEM) is recalcitrant and long-term remission is difficult to achieve. Favorable results of treatment using carbamazepine or mexiletine have been identified in some PEM patients...

Erythermalgia revealing two aetiologies: polycythemia vera and a cervical rib.

Khaled A, Robbana F, Fazaa B , et al. · Journal of the European Academy of Dermatology and Venereology : JEADV · 2009

Voltage-gated sodium channels: therapeutic targets for pain.

Dib-Hajj SD, Black JA, Waxman SG · Pain medicine (Malden, Mass.) · 2009

To provide an overview of the role of voltage-gated sodium channels in pathophysiology of acquired and inherited pain states, and of recent developments that validate these channels as therapeutic tar...

A case of primary erythermalgia with encephalopathy.

Seneschal J, Solé G, Taieb A , et al. · Journal of neurology · 2009

A case of primary erythermalgia with prurigo.

Li Y, Lin Z, Ma Z , et al. · Clinical and experimental dermatology · 2009

Late-onset erythromelalgia in a previously healthy young woman: a case report and review of the literature.

Gaur S, Koroscil T · Journal of medical case reports · 2009

Erythromelalgia is a rare disorder characterized by episodic erythema and burning pain, which commonly involves the extremities. We present a case of late onset erythromelalgia in a previously healthy...

A case of primary erythromelalgia.

Galimberti D, Pontón A, Rubio L , et al. · Journal of the European Academy of Dermatology and Venereology : JEADV · 2009

A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.

Fischer TZ, Gilmore ES, Estacion M , et al. · Annals of neurology · 2009

Human and animal studies have shown that Na(v)1.7 sodium channels, which are preferentially expressed within nociceptors and sympathetic neurons, play a major role in inflammatory and neuropathic pain...

Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.

Han C, Dib-Hajj SD, Lin Z , et al. · Brain : a journal of neurology · 2009

Inherited erythromelalgia (IEM), an autosomal dominant disorder characterized by severe burning pain in response to mild warmth, has been shown to be caused by gain-of-function mutations of sodium cha...

Childhood steroid-responsive acute erythromelalgia with axonal neuropathy of large myelinated fibers: a dysimmune neuropathy?

Pfund Z, Stankovics J, Decsi T , et al. · Neuromuscular disorders : NMD · 2009

A 12-year-old girl developed acute erythromelalgia of distal extremities. Physical, imaging and laboratory examinations failed to find an infective, systemic autoimmune, metabolic, endocrine, and vasc...

Dorsal root ganglia, sodium channels, and fibromyalgia sympathetic pain.

Martinez-Lavin M, Solano C · Medical hypotheses · 2009

Fibromyalgia (FM) is the most frequent cause of generalized pain in the community. Trauma and infection are frequent FM triggering events. A consistent line of investigation suggests that autonomic dy...

Incidence of erythromelalgia: a population-based study in Olmsted County, Minnesota.

Reed KB, Davis MD · Journal of the European Academy of Dermatology and Venereology : JEADV · 2009

To estimate the population-based incidence of erythromelalgia. Background Only one report describing the incidence of erythromelalgia has been published previously. A population-based analysis of data...

[Congenital insensitivity to pain].

Danziger N, Willer JC · Revue neurologique · 2009

Congenital insensitivity to pain (CIP) is a rare syndrome with various clinical expressions, characterized by a dramatic impairment of pain perception since birth. In the 1980s, progress in nerve hist...

Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.

Lampert A, Dib-Hajj SD, Eastman EM , et al. · Biochemical and biophysical research communications · 2009

Erythromelalgia (also termed erythermalgia) is a neuropathic pain syndrome, characterized by severe burning pain combined with redness in the extremities, triggered by mild warmth. The inherited form...

A sodium channel gene SCN9A polymorphism that increases nociceptor excitability.

Estacion M, Harty TP, Choi JS , et al. · Annals of neurology · 2009

Sodium channel Na(V)1.7, encoded by the SCN9A gene, is preferentially expressed in nociceptive primary sensory neurons, where it amplifies small depolarizations. In studies on a family with inherited...

Treatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel.

Natkunarajah J, Atherton D, Elmslie F , et al. · Clinical and experimental dermatology · 2009

Primary erythermalgia (erythromelalgia) is a rare autosomal dominant condition characterized by intermittent attacks of erythema, increased skin temperature and severe burning pain in the extremities,...

Red ear syndrome and auricular erythromelalgia: the same condition?

Brill TJ, Funk B, Thaçi D , et al. · Clinical and experimental dermatology · 2009

Several cases of relapsing attacks during which the ear becomes red and patients experience a burning sensation have been reported in the literature. This combination of symptoms has been described as...

Romiplostim-induced erythromelalgia in a patient with idiopathic thrombocytopenic purpura.

Kluger N, Bessis D, Quittet P , et al. · The British journal of dermatology · 2009

Erythromelalgia accompanying rosuvastatin-associated myopathy.

Cimolai N, Cimolai T · Journal of dermatological case reports · 2009

Secondary erythromelalgia can occur due to various underlying medical disorders or drug toxicity. A 75-year old male developed acute secondary erythromelalgia following the onset of rosuvastatin use a...

[Primary erythermalgia: efficacy of oxcarbazepine].

Skali Dahbi S, Zouhair K, Moutawakil B , et al. · Annales de dermatologie et de venereologie · 2009

Essential erythermalgia is a rare acrosyndrome that is difficult to treat. Herein, we report a new case unusual in terms of both the associated partial epileptic seizures and of the favourable outcome...

Mexiletine-responsive erythromelalgia due to a new Na(v)1.7 mutation showing use-dependent current fall-off.

Choi JS, Zhang L, Dib-Hajj SD , et al. · Experimental neurology · 2009

Inherited erythromelalgia (IEM), characterized by episodic burning pain and erythema of the extremities, is produced by gain-of-function mutations in sodium channel Na(v)1.7, which is preferentially e...

Patient education and self-advocacy: queries and responses on pain management; erythromelalgia.

Tokarz KA · Journal of pain & palliative care pharmacotherapy · 2009

Questions from patients concerning a disease process known as erythromelalgia, its diagnosis, symptoms, and treatments are answered to help patients and caregivers understand the disease and its treat...

Alternative splicing of Na(V)1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T.

Jarecki BW, Sheets PL, Xiao Y , et al. · Channels (Austin, Tex.) · 2009

Alternative splicing is known to alter pharmacological sensitivities, kinetics, channel distribution under pathological conditions, and developmental regulation of VGSCs. Mutations that alter channel...

Experience with oral mexiletine in primary erythromelalgia in children.

Iqbal J, Bhat MI, Charoo BA , et al. · Annals of Saudi medicine · 2009

Primary erythromelalgia is characterized by burning pain, redness, and warmth in the extremities. We present two cases of primary erythromelalgia both of whom presented with a history of several month...

NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.

Estacion M, Dib-Hajj SD, Benke PJ , et al. · The Journal of neuroscience : the official journal of the Society for Neuroscience · 2008

Gain-of-function mutations of Na(V)1.7 have been shown to produce two distinct disorders: Na(V)1.7 mutations that enhance activation produce inherited erythromelalgia (IEM), characterized by burning p...

Inherited neuronal ion channelopathies: new windows on complex neurological diseases.

Catterall WA, Dib-Hajj S, Meisler MH , et al. · The Journal of neuroscience : the official journal of the Society for Neuroscience · 2008

Studies of genetic forms of epilepsy, chronic pain, and migraine caused by mutations in ion channels have given crucial insights into molecular mechanisms, pathogenesis, and therapeutic approaches to...

Erythromelalgia of the ears: an unusual variant and response to therapy.

Berk DR, Eisen AZ · Journal of drugs in dermatology : JDD · 2008

Erythromelalgia is characterized by episodes of erythematous, warm, burning acral skin, which is exacerbated by heat and relieved by cold. Erythromelalgia usually affects the feet and/or hands but, al...

Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.

Drenth JP, Te Morsche RH, Mansour S , et al. · Archives of dermatology · 2008

To elucidate the rate of missense mutations in the SCN9A gene (which encodes sodium channel Na(v)1.7) (OMIM 603415) among patients with primary erythermalgia and to examine the possibility that other...

Erythromelalgia in a diabetic patient managed with gabapentin.

Pipili C, Cholongitas E · Diabetes research and clinical practice · 2008