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

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URI: https://hdl.handle.net/10016/33518
ISSN: 1018-8665
DOI: https://doi.org/10.1159/000313507
UXXI: AR/0000012916
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X-Linked_DERMATOLOGY_2010_ps.pdf (510.26 KB)
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2010-08
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Karger Publishers
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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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X-Linked Ichthyosis, Epidermolysis bullosa, Genodermatoses
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Hernández-Martín, A., Cuadrado-Corrales, N., Ciria-Abad, S., Arias-Palomo, D., Mascaró-Galy, J., Escámez, M., García, M., del Río, M., Torrelo, A. & González-Sarmiento, R. (2010). X-Linked Ichthyosis along with Recessive Dystrophic Epidermolysis Bullosa in the Same Patient. Dermatology, 221(2), pp. 113–116.
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