Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series.

Objectives: To evaluate the clinical features of erythromelalgia in childhood associated with gain-of-function SCN9A mutations that increase activity of the Na1.7 voltage-gated sodium channel, we conducted a systematic review of pediatric presentations of erythromelalgia related to SCN9A mutations, and compared pediatric clinical presentations of symptomatic erythromelalgia, with or without SCN9A mutations.

Study Design: PubMed, Embase, and PsycINFO Databases were searched for reports of inherited erythromelalgia in childhood.