Clouston syndrome: first case in Russia.

ABSTRACT: Hidrotic ectodermal dysplasia type 2 (HED2) or Clouston syndrome (OMIM #129500) is a rare autosomal dominant genetic disorder which affects skin and its derivatives, characterized by the major triad of features: nail dystrophy, generalized hypotrichosis, and palmoplantar hyperkeratosis. Here we describe the first case of Clouston syndrome in Russia and the molecular genetic analysis of this case.

SUBMITTER: Marakhonov A 

PROVIDER: S-EPMC3776650 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature