Treatment 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

• Published in: Clinical and Experimental Dermatology Vol. 34; no. 8; pp. e640 - e642
• Main Authors: Natkunarajah, J., Atherton, D., Elmslie, F., Mansour, S., Mortimer, P.
• Format: Conference Proceeding Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.12.2009
• Subjects: Adolescent; Adult; Amines - administration & dosage; Calcium Channel Blockers - administration & dosage; Carbamazepine - administration & dosage; Cyclohexanecarboxylic Acids - administration & dosage; Drug Therapy, Combination; Erythromelalgia - drug therapy; Erythromelalgia - genetics; Female; gamma-Aminobutyric Acid - administration & dosage; Humans; Mutation - genetics; NAV1.7 Voltage-Gated Sodium Channel; Pain - genetics; Pedigree; Sodium Channels - drug effects; Sodium Channels - genetics
• ISSN: 0307-6938; 1365-2230
• DOI: 10.1111/j.1365-2230.2009.03355.x

Summary 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.