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.
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.
Natkunarajah
J
J
Department of Dermatology, St George's Hospital, London, UK. janakan@fsmail.net
Atherton
D
D
Elmslie
F
F
Mansour
S
S
Mortimer
P
P
D000293:Adolescent; D000328:Adult; D000588:Amines / Q000008:administration & dosage*; D002121:Calcium Channel Blockers / Q000008:administration & dosage*; D002220:Carbamazepine / Q000008:administration & dosage*; D003509:Cyclohexanecarboxylic Acids / Q000008:administration & dosage*; D004359:Drug Therapy, Combination; D004916:Erythromelalgia / Q000188:drug therapy* / Q000235:genetics; D005260:Female; D000077206:Gabapentin; D006801:Humans; D009154:Mutation / Q000235:genetics; D062556:NAV1.7 Voltage-Gated Sodium Channel; D010146:Pain / Q000235:genetics; D010375:Pedigree; D015222:Sodium Channels / Q000187:drug effects* / Q000235:genetics; D005680:gamma-Aminobutyric Acid / Q000008:administration & dosage*
D000588:Amines; D002121:Calcium Channel Blockers; D003509:Cyclohexanecarboxylic Acids; D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human; D015222:Sodium Channels; D002220:Carbamazepine; D005680:gamma-Aminobutyric Acid; D000077206:Gabapentin