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

Research paper by Patrick C PC Carr, Kathleen M KM Casamiquela, Stephanie K SK Jacks

Indexed on: 10 Dec '15Published on: 10 Dec '15Published in: Pediatric Dermatology


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.