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Gac Med Mex ; 151(2): 270-2, 2015.
Article in Spanish | MEDLINE | ID: mdl-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.


Subject(s)
Pachyonychia Congenita/diagnosis , Adult , Female , Humans , Pachyonychia Congenita/genetics
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