Cutaneous findings in congenital disorders of glycosylation: The hanging fat sign

Jon A. Dyer, Cleome J. Winters, Sarah L. Chamlin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)457-460
Number of pages4
JournalPediatric dermatology
Volume22
Issue number5
DOIs
StatePublished - Sep 1 2005

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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