Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel α subunit Nav1. 7

JJ Michiels, RHM te Morsche, JBMJ Jansen… - Archives of …, 2005 - jamanetwork.com
Background Autosomal dominant primary erythermalgia is a rare disorder characterized by
recurrent attacks of red, warm, and painful hands and/or feet. Objective To describe the
phenotypes and molecular data of a 10-member family with 5 symptomatic living patients
with erythermalgia. Results The clinical phenotype of this family was featured by episodic or
continuous symmetrical red swelling, irritating warmth, and burning pain of feet and lower
legs provoked or aggravated by warmth and exercise, and relief was always obtained by …