title: First case of pachyonychia congenita in the Czech Republic.
abstract: Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder characterized predominantly by hypertrophic nail dystrophy, oral leukokeratosis, and painful palmoplantar keratoderma. It is associated with a mutation in one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The International PC Research Registry (IPCRR) confirms that as of January 2014 there have been 547 cases of PC genetically confirmed. It is estimated that there are between 2000 and 10,000 cases of PC in the world. However, the exact prevalence of PC is not yet established. We report a case of PC-K6a, p.Arg164Pro, in a 40-year-old man. Initially he was diagnosed with onychomycosis and was treated with systemic antifungals. This is the first genetically confirmed case of PC in the Czech Republic.
authors.affiliation: Department of Dermatovenerology, 2nd Faculty of Medicine, Charles University, Bulovka Hospital, Prague, Czech Republic.
authors.forename: Anna
authors.initials: A
authors.lastname: Jiráková
authors.forename: Lucie
authors.initials: L
authors.lastname: Rajská
authors.forename: Filip
authors.initials: F
authors.lastname: Rob
authors.forename: Martina
authors.initials: M
authors.lastname: Džambová
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Sečníková
authors.forename: Dana
authors.initials: D
authors.lastname: Göpfertová
authors.forename: Mary
authors.initials: M
authors.lastname: Schwartz
authors.forename: Frances
authors.initials: F
authors.lastname: Smith
authors.forename: Torello
authors.initials: T
authors.lastname: Lotti
authors.forename: Jana
authors.initials: J
authors.lastname: Hercogová
mesh_terms: D000328:Adult; D018153:Czech Republic; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000209:etiology* / Q000235:genetics; D008297:Male; D009154:Mutation; D014009:Onychomycosis / Q000175:diagnosis*; D053549:Pachyonychia Congenita / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology
keywords: keratinizing disorder; nail dystrophy; pachyonychia congenita; systemic antifungals