Clouston syndrome: first case in Russia

Av Marakhonov; Myu Skoblov; Va Galkina; Ra Zinchenko

doi:10.2478/v10034-012-0008-9

Clouston syndrome: first case in Russia

Balkan J Med Genet. 2012 Jun;15(1):51-4. doi: 10.2478/v10034-012-0008-9.

Authors

Av Marakhonov¹, Myu Skoblov, Va Galkina, Ra Zinchenko

Affiliation

¹ Laboratory of Genetic Epidemiology, Federal State Budgetary Institution "Research Centre for Medical Genetics" under the Russian Academy of Medical Sciences, Moscow, Russian Federation.

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.

Keywords: Clouston syndrome; Cx30; GJB6; Hidrotic ectodermal dysplasia type 2 (HED2).

Publication types

Case Reports