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  • Title: [Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)].
    Author: Cammarata-Scalisi F, Natsuga K, Toyonaga E, Nishie W, Shimizu H, Stock F, Milano M, Petrosino P, Arenas de Sotolongo A, Medina Y.
    Journal: Gac Med Mex; 2015; 151(2):270-2. PubMed ID: 25946540.
    Abstract:
    Pachyonychia congenita is a group of autosomal dominant inheritance pattern disorders characterized by hypertrophic nail dystrophy There are two main clinical subtypes: type 1 and 2. Pachyonychia congenita type 2 is readily differentiated from type 1 by multiple steatocysts and/or presence of natal teeth and can be confirmed by mutations of KRT6B and KRT17. We report the case of a 33-year-o/d female patient with the missense mutation in KRT17 gene (c.280C> T, p.Arg94Cys) and discuss the several clinical features found with this mutation in the literature.
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