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 de Sotolongo, A.; Medina, Y.
Gaceta Medica de Mexico 151(2): 270-272
2015
ISSN/ISBN: 0016-3813 PMID: 25946540 Document Number: 684278
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.