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ISSN 0016-3813 (Print)

2015, Number 2

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Gac Med Mex 2015; 151 (2)

Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)

Cammarata-Scalisi F, Natsuga K, Toyonaga E, Nishie W, Shimizu H, Stock F, Milano M, Petrosino P, Arenas SA, Medina Y

Language: Spanish
References: 10
Page: 270-272
PDF size: 123.91 Kb.


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-old 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.


REFERENCES

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