Abstract:

Abstract: Primary erythermalgia (PEM) is a rare autosomal dominant inherited pain disorder. Clinically, PEM is characterized by symmetrical redness and burning pain of the feet and sometimes hands after exposure to warmth. Mutations in SCN9A, a sodium channel 1.7(Nav1.7) alpha subunit coding gene, are responsible for the pathogenesis of PEM. Recently, more than a dozen SCN9A mutations were detected in PEM patients from all over the world, parts of which were confirmed by electrophysiological analysis to cause a gain-of-function effect. These results suggest a relationship between clinical phenotype and mutation genotype of PEM. Progress in understanding the pathogenesis of PEM may lead us to exploit a new kind of analgesics without central nervous system side effect.

Key words: Primary erythermalgia, SCN9A, gene mutation, mutation hot spot, analgesics