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- Title
X-Linked Ichthyosis along with Recessive Dystrophic Epidermolysis Bullosa in the Same Patient.
- Authors
Hernández-Martín; Cuadrado-Corrales; Ciria-Abad; Arias-Palomo; Mascaró-Galy; Escámez; García; Del Río; Torrelo; González-Sarmiento
- Abstract
X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase steroid (STS) gene. Dystrophic epidermolysis bullosa (DEB) is a scarring form of epidermolysis bullosa of either autosomal recessive or dominant inheritance secondary to collagen VII gene mutations. We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated. Copyright © 2010 S. Karger AG, Basel
- Publication
Dermatology (10188665), 2010, Vol 221, Issue 2, p113
- ISSN
1018-8665
- Publication type
Article
- DOI
10.1159/000313507