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, primarily in the extremities. Its presentation can be mistaken for diabetic foot infection (DFI), leading to diagnostic dilemmas and potentially harmful therapeutic interventions. A 62-year-old Han Chinese woman with diabetes presented with recurrent redness, swelling, burning pain, and ulceration on both feet. She was once misdiagnosed as DFI, but was finally confirmed as EM based on characteristic symptoms (heat intolerance, relief with cautious cooling) in the absence of infectious signs (fever, leukocytosis, or purulence). During the treatment, the patient was significantly alleviated. However, she suffered from gangrene and went through amputation due to use of ice packs. This case not only demonstrates the critical importance of differentiating EM from DFI, but also emphasizes the necessity of avoiding ice therapy in its management, providing valuable insights for clinical practice.
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 currently. Here, we report a case of primary erythromelalgia and the treatment response in a 10-year-old boy, whose genetic findings for mutations in the SCN9A gene were positive and skin biopsy results were diagnosed as small fiber neuropathy, while he has suffered from excruciating burning pain, itching, erythema, and recurrent infections over the past 3 years. He did not respond well to conventional treatment, and the only way to receive minimal relief was to immerse his feet in ice water. After a successful trial of spinal cord stimulation (SCS), the implantable pulse generator (IPG) was successfully implanted without complications, and it proved partial response to therapy. There is no specific, efficient treatment for pediatric erythromelalgia currently, but this case demonstrates neuromodulation serves as part of the multimodal regimen to treat pediatric erythromelalgia.
Journal of the Chinese Medical Association : JCMA •
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 situations. We describe a woman with adenosquamous cell carcinoma of the lung and medically refractory erythromelalgia. The symptoms of erythromelalgia presented as refractory to any medical treatment. Due to the unresponsive nature of her condition, botulinum toxin type A (onabotulinumtoxin A) was injected over both of her cheeks, periodically for six cycles. Her symptoms responded dramatically to subcutaneous and intradermal injection of botulinum toxin type A. Repetitive injection demonstrated consistent and reproducible responses, and the efficacy was maintained for approximately 1 month. No adverse effects or complications were noted. Botulinum toxin type A might be safe and effective as an alternative treatment for refractory erythromelalgia, but further large-scale studies are required.