title: [Clinical and molecular findings of pachyonychia congenita type 2 (PC-2)].
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.
authors.affiliation: Unidad de Genética Médica, Departamento de Puericultura y Pediatría, Universidad de Los Andes, Mérida, Venezuela.
authors.forename: Francisco
authors.initials: F
authors.lastname: Cammarata-Scalisi
authors.affiliation: Departamento de Dermatología, Escuela de Medicina, Universidad de Hokkaido, Sapporo, Japón.
authors.forename: Ken
authors.initials: K
authors.lastname: Natsuga
authors.affiliation: Departamento de Dermatología, Escuela de Medicina, Universidad de Hokkaido, Sapporo, Japón.
authors.forename: Ellen
authors.initials: E
authors.lastname: Toyonaga
authors.affiliation: Departamento de Dermatología, Escuela de Medicina, Universidad de Hokkaido, Sapporo, Japón.
authors.forename: Wataru
authors.initials: W
authors.lastname: Nishie
authors.affiliation: Departamento de Dermatología, Escuela de Medicina, Universidad de Hokkaido, Sapporo, Japón.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
authors.affiliation: Unidad de Oncología Pediátrica, Instituto Autónomo Hospital Universitario de Los Andes, Mérida, Venezuela.
authors.forename: Frances
authors.initials: F
authors.lastname: Stock
authors.affiliation: Unidad de Anatomía Patológica, Universidad de Los Andes, Mérida, Venezuela.
authors.forename: Melisse
authors.initials: M
authors.lastname: Milano
authors.affiliation: Unidad de Anatomía Patológica, Universidad de Los Andes, Mérida, Venezuela.
authors.forename: Pierina
authors.initials: P
authors.lastname: Petrosino
authors.affiliation: Unidad de Anatomía Patológica, Universidad de Los Andes, Mérida, Venezuela.
authors.forename: Asmiria
authors.initials: A
authors.lastname: Arenas de Sotolongo
authors.affiliation: Universidad de Los Andes, Mérida, Venezuela.
authors.forename: Yoel
authors.initials: Y
authors.lastname: Medina
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D053549:Pachyonychia Congenita / Q000175:diagnosis* / Q000235:genetics