نتایج جستجو برای: erythromelalgia
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OBJECTIVE To describe the demographics, presentation, and outcome in patients with erythromelalgia--a rare and poorly understood clinical syndrome defined by the triad of red, hot, painful extremities. DESIGN Retrospective medical record review with follow-up by survey questionnaire. SETTING Large tertiary care medical center. SUBJECTS Patients with erythromelalgia examined at the Mayo Cl...
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 sensorimotor axonal neuropathy and erythromelalgia. Possible causes and treatment are discussed.
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. Mutations in TTX resistant channels, such as Nav1.8 or Nav1.9, were recently connected with inherited chronic pain syndromes. Here, we investigated the effects of the p.M650K mutation in Nav1.8 in a...
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 within injured dorsal root ganglia neurons appear to predispose the neurons to abnormal firing properties, allowing for the development of neuropathic pain. Mutations of one particular sodium chann...
ERYTHROMELALGIA is a rare syndrome characterized by episodic burning pain, erythema, and elevated temperature of the feet, hands, or both.[1,2] The syndrome can occur alone or with myeloproliferative or other diseases.[3-5] Attacks may last from minutes to days and can persist indefinitely in the absence of treatment. The pathophysiology of erythromelalgia is poorly understood. Case reports in ...
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