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Clin. Exp. Dermatol. · Dec 2009
Case ReportsTreatment with carbamazepine and gabapentin of a patient with primary erythermalgia (erythromelalgia) identified to have a mutation in the SCN9A gene, encoding a voltage-gated sodium channel.
- J Natkunarajah, D Atherton, F Elmslie, S Mansour, and P Mortimer.
- Department of Dermatology, St George's Hospital, London, UK. janakan@fsmail.net
- Clin. Exp. Dermatol. 2009 Dec 1;34(8):e640-2.
AbstractPrimary 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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