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

issue

  • 2

volume

  • 221

international standard serial number (ISSN)

  • 1018-8665

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.

keywords

  • x-linked ichthyosis; epidermolysis bullosa; genodermatoses