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 empha...

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Bibliographic Details
Published in:Pediatric dermatology 2005-09, Vol.22 (5), p.457-460
Main Authors: Dyer, Jon A., Winters, Cleome J., Chamlin, Sarah L.
Format: Article
Language:English
Subjects:
Adipose Tissue
Biological and medical sciences
Congenital Disorders of Glycosylation - complications
Congenital Disorders of Glycosylation - diagnosis
Congenital Disorders of Glycosylation - metabolism
Dermatology
Fatal Outcome
Female
Glycosylation
Humans
Infant
Medical sciences
Skin Diseases - etiology
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Description
Summary::  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.
ISSN:0736-8046
1525-1470
DOI:10.1111/j.1525-1470.2005.00117.x