First case of pachyonychia congenita in the Czech Republic

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064211%3A_____%2F15%3A%230000379" target="_blank" >RIV/00064211:_____/15:#0000379 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/15:10294957
Result on the web
<a href="http://dx.doi.org/10.1111/dth.12142" target="_blank" >http://dx.doi.org/10.1111/dth.12142</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/dth.12142" target="_blank" >10.1111/dth.12142</a>

Result language
angličtina
Original language name
First case of pachyonychia congenita in the Czech Republic
Original language description
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.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FO - Dermatology and venereology
OECD FORD branch
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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