Behavioral therapy ceased cold water immersion dependence in a patient with familial erythromelalgia caused by SCN9A mutation

Abstract

Erythromelalgia is characterized by a triad of symptoms, which include symmetrical burning sensations in the limbs, particularly in the soles and legs; erythema; and an elevated skin temperature. Prolonged burning sensations are often triggered by thermal stimulation, exercise, or infection, which patients may alleviate by immersing their legs in cold water. However, extended immersion often results in skin ulcers and refractory infections, creating a vicious cycle. Erythromelalgia is classified into familial (primary) and acquired (secondary) forms. A missense mutation of SCN9A, which encodes a voltage-gated sodium channel, is the known cause of the familial type of erythromelalgia.