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X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient

AuthorsGonzález-Sarmiento, Rogelio
Issue Date2010
PublisherS. Karger AG
CitationDermatology 221(2): 113-116 (2010)
AbstractX-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.
Identifiersdoi: 10.1159/000313507
issn: 1018-8665
e-issn: 1421-9832
Appears in Collections:(IBMCC) Artículos
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