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

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.