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  • Title: X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.
    Author: Hernández-Martín A, Cuadrado-Corrales N, Ciria-Abad S, Arias-Palomo D, Mascaró-Galy JM, Escámez MJ, García M, Del Río M, Torrelo A, González-Sarmiento R.
    Journal: Dermatology; 2010; 221(2):113-6. PubMed ID: 20523032.
    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.
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