Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions

Collodion membrane is most closely associated with forms of autosomal recessive congenital ichthyosis, but the differential diagnosis includes many other less common etiologies. Herein we present a case of Gaucher disease (GD) type 2 in a neonate presenting with collodion membrane in addition to blu...

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Bibliographic Details
Published in:	Pediatric dermatology Vol. 33; no. 1; pp. e20 - e22
Main Authors:	Carr, Patrick C., Casamiquela, Kathleen M., Jacks, Stephanie K.
Format:	Journal Article
Language:	English
Published:	United States 01-01-2016
Subjects:	Diagnosis, Differential Female Gaucher Disease - complications Gaucher Disease - diagnosis Humans Ichthyosis, Lamellar - complications Ichthyosis, Lamellar - diagnosis Infant, Newborn Skin - pathology
Online Access:	Get full text
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Summary:	Collodion membrane is most closely associated with forms of autosomal recessive congenital ichthyosis, but the differential diagnosis includes many other less common etiologies. Herein we present a case of Gaucher disease (GD) type 2 in a neonate presenting with collodion membrane in addition to blueberry muffin lesions. The clinical presentation and etiology of GD and the differential diagnoses for collodion membrane and blueberry muffin lesions are briefly reviewed.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0736-8046 1525-1470
DOI:	10.1111/pde.12733