title: Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions.
abstract: 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.
authors.affiliation: Medical School, University of Mississippi Medical Center, Jackson, Mississippi.
authors.forename: Patrick C
authors.initials: PC
authors.lastname: Carr
authors.affiliation: Department of Dermatology, University of Mississippi Medical Center, Jackson, Mississippi.
authors.forename: Kathleen M
authors.initials: KM
authors.lastname: Casamiquela
authors.affiliation: Department of Dermatology, University of Mississippi Medical Center, Jackson, Mississippi.|Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.
authors.forename: Stephanie K
authors.initials: SK
authors.lastname: Jacks
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000150:complications / Q000175:diagnosis*; D007231:Infant, Newborn; D012867:Skin / Q000473:pathology*