Anesthesia and Sedative Agents (2)
Pain Management and Treatment (2)
Anesthesia and Pain Management (1)
Pain Mechanisms and Treatments (1)
Intensive Care Unit Cognitive Disorders (1)
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 been involved in various painful conditions of neuropathic, vascular, and visceral origin. Sympathetic block is helpful in making a diagnosis and managing pain. We report a case of excellent pain relief after lumbar sympathetic pulsed radiofrequency treatment in a patient with primary erythromelalgia of the lower extremities. This case suggests the viability of pulsed radiofrequency treatment in patients with erythromelalgia.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus •
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 neuropathy. Loss of function mutations lead to congenital insensitivity to pain. We report the case of a 6-year-old girl with a SCN9A mutation who presented with both gain of function and loss of function phenotypes, including congenital corneal anesthesia.
Clinical autonomic research : official journal of the Clinical Autonomic Research Society •
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 extremities triggered by warmth. We report a 49-year-old male with primary EM caused by SCN9A mutation (p.F216S), in whom an autonomic reflex screening test revealed a mild sudomotor dysfunction.