期刊
CLINICAL AND EXPERIMENTAL DERMATOLOGY
卷 34, 期 8, 页码 E640-E642出版社
WILEY
DOI: 10.1111/j.1365-2230.2009.03355.x
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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, in a bilateral symmetrical distribution. Mutations in the SCN9A gene, which encodes a voltage-gated sodium channel have been shown to cause this disease. We report a family identified to have a mutation in the SCN9A gene, in which one severely affected family member has responded to the therapeutic combination of gabapentin and carbamazepine treatment.
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