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Case Reports
. 2012 Jun;15(1):51-4.
doi: 10.2478/v10034-012-0008-9.

Clouston Syndrome: First Case in Russia

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Free PMC article
Case Reports

Clouston Syndrome: First Case in Russia

Av Marakhonov et al. Balkan J Med Genet. .
Free PMC article

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).

Figures

Figure 1
Figure 1
Clinical presentation. (a) Generalized hypotrichosis; (b) nail dystrophy on the hand; (c) nail dystrophy on the foot; (d) plantar hyperkeratosis.
Figure 2
Figure 2
Chromatograms of GJB6 sequencing of the proband (upper) and a normal child (lower). The arrow indicates the c.263C>T mutation.
Figure 3
Figure 3
Pedigree of the proband’s family. Filled symbols indicate affected individuals.

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