نتایج جستجو برای: pachyonychia congenita
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Pachyonychia congenita (PC) is a rare skin disease that inherited in an autosomal dominant pattern. PC associated with mutations the genes encoding keratins K6, K16 or K17, which are related to epidermal hyperproliferation. patients experience severe and painful palmoplantar keratoderma accompanied by blistering highly disabling as it greatly impairs ambulation. No curative treatment currently ...
Background: Pachyonychia congenita (PC) comprises a group of rare autosomal dominant genetic disorders. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratosis, and oral leukokeratosis. associated with mutations in five differentiationspecific keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The case being reported for its rarity. To the best...
Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. It is classically subdivided into two major variants, PC-1 (Jadassohn-Lewandowski syndrome) and PC-2 (Jackson-Lawler syndrome), according to the localization of the mutations in the KRT6A/KRT16 or KRT6B/KRT17...
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