X-Linked Ichthyosis along with Recessive Dystrophic Epidermolysis Bullosa in the Same Patient

作者：Hernandez Martin A^*; Cuadrado Corrales N; Ciria Abad S; Arias Palomo D; Mascaro Galy J M; Escamez M J; Garcia M; Del Rio M; Torrelo A; Gonzalez Sarmiento R

来源：Dermatology, 2010, 221(2): 113-116.

DOI：10.1159/000313507

• X-linked ichthyosis
• Epidermolysis bullosa
• Genodermatoses

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.

• 出版日期2010