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

Research Projects
Organizational Units
Journal Issue
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.
X-Linked Ichthyosis, Epidermolysis bullosa, Genodermatoses
Bibliographic citation
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.