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June 2005

Two New Mutations of the ABHD5 Gene in a New Adult Case of Chanarin Dorfman Syndrome: An Uncommon Lipid Storage Disease

Author Affiliations

Copyright 2005 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2005

Arch Dermatol. 2005;141(6):798-800. doi:10.1001/archderm.141.6.798

The Chanarin Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by an inborn error of nonlysosomal neutral lipid metabolism. Clinical expression is variable involving multiple organs.1 Cutaneous manifestations, including a nonbullous congenital ichthyosiform erythroderma, are the most common symptoms. Fewer than 50 cases have been reported to date, and most patients are from Middle Eastern countries or France.