Get access

Cutaneous Findings in Congenital Disorders of Glycosylation: The Hanging Fat Sign


Sarah L. Chamlin, M.D., 2300 Children's Plaza; #107, Chicago, IL. 60614, or e-mail:


Abstract:  The congenital disorders of glycosylation are a group of rare metabolic disorders with predominantly neurologic findings. Some variants of this disorder also exhibit cutaneous manifestations. We report a patient with a congenital disorder of glycosylation type Ia, the most common form, with emphasis on the cutaneous findings of this type, and summarize the cutaneous findings in the other forms of the disorder.