Cutaneous findings in congenital disorders of glycosylation: the hanging fat sign.
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.
Dyer
Jon A
JA
Division of Pediatric Dermatology, Children's Memorial Hospital, and Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60614, USA.
Winters
Cleome J
CJ
Chamlin
Sarah L
SL
D000273:Adipose Tissue; D018981:Congenital Disorders of Glycosylation / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism; D017809:Fatal Outcome; D005260:Female; D006031:Glycosylation; D006801:Humans; D007223:Infant; D012871:Skin Diseases / Q000209:etiology*