Jiráková Anna, Rajská Lucie, Rob Filip, Džambová Martina, Sečníková Zuzana, Göpfertová Dana, Schwartz Mary, Smith Frances, Lotti Torello, Hercogová Jana
Department of Dermatovenerology, 2nd Faculty of Medicine, Charles University, Bulovka Hospital, Prague, Czech Republic.
Dermatol Ther. 2015 Jan-Feb;28(1):10-2. doi: 10.1111/dth.12142. Epub 2014 Aug 29.
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.
先天性厚甲症（PC）是一种罕见的常染色体显性遗传性皮肤病，主要特征为肥厚性甲营养不良、口腔黏膜白斑和疼痛性掌跖角化病。它与五个角蛋白基因之一KRT6A、KRT6B、KRT6C、KRT16或KRT17的突变有关。国际先天性厚甲症研究登记处（IPCRR）证实，截至2014年1月，已有547例先天性厚甲症经基因确认。据估计，全球先天性厚甲症病例数在2000至10000例之间。然而，先天性厚甲症的确切患病率尚未确定。我们报告了一例40岁男性的PC-K6a，p.Arg164Pro病例。最初他被诊断为甲癣，并接受了全身性抗真菌治疗。这是捷克共和国首例经基因确认的先天性厚甲症病例。
