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Autosomal Dominant Erythermalgia Associated With a Novel Mutation in the Voltage-Gated Sodium Channel  Subunit Nav1.7
Jan J. Michiels, MD, PhD;
Rene H. M. te Morsche, BSc;
Jan B. M. J. Jansen, MD, PhD;
Joost P. H. Drenth, MD, PhD
Arch Neurol. 2005;62:1587-1590.
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 application of cold, such as putting feet in (ice-) cold water. The symptoms in this family were only partially controlled by analgesics and sedatives. All affected family members were heterozygous for a novel mutation (S241T) of the voltage-gated sodium channel  subunit Nav1.7.
Conclusion Primary erythermalgia may be a neuropathic disorder of the small peripheral sensory and sympathetic neurons, and may be caused by hyperexcitability of Nav1.7.
Author Affiliations: Haemostasis and Thrombosis Research, Department of Haematology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium (Dr Michiels); and Goodheart Institute, MPD Center Europe, Rotterdam (Dr Michiels), and Division of Gastroenterology and Hepatology, Department of Medicine, Radboud University Nijmegen Medical Center, Nijmegen (Mr te Morsche and Drs Jansen and Drenth), the Netherlands.
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