First case of pachyonychia congenita in the Czech Republic
Language English Country United States Media print-electronic
Document type Case Reports, Journal Article
PubMed
25174302
DOI
10.1111/dth.12142
Knihovny.cz E-resources
- Keywords
- keratinizing disorder, nail dystrophy, pachyonychia congenita, systemic antifungals,
- MeSH
- Adult MeSH
- Humans MeSH
- Mutation MeSH
- Onychomycosis diagnosis MeSH
- Pachyonychia Congenita diagnosis genetics physiopathology MeSH
- Keratoderma, Palmoplantar etiology genetics MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Male MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Geographicals
- Czech Republic MeSH
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.
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