Autosomal Dominant Erythermalgia Associated With a Novel Mutation in the Voltage-Gated Sodium Channel α Subunit Nav1.7

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Abstract
Primary or idiopathic erythermalgia (Online Mendelian Inheritance in Man 603415) spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder.1-3 Primary erythermalgia is characterized by attacks or episodes of symmetrical red congestion and vasodilatation and burning pain of feet and lower legs provoked by exercise, long standing, and exposure to warmth that usually compel patients not to wear socks or closed shoes even in wintertime and to search for relief by immersion of feet in ice-cold water. The symptoms are refractory to treatment, and although many therapeutic options have been tested, there is no drug that consistently alleviates symptoms in these patients. Primary erythermalgia has been recognized as a separate clinical entity and proved to be a congenital disorder with documented autosomal dominant inheritance,1,3-7 but sporadic cases have been reported as well.

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