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

publication date

  • August 2010

start page

  • 113

end page

  • 116


  • 2


  • 221

International Standard Serial Number (ISSN)

  • 1018-8665


  • 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.


  • Biology and Biomedicine


  • x-linked ichthyosis; epidermolysis bullosa; genodermatoses