Pachyonychia Congenita type 1 – A peerless entity
Journal Title: Nasza Dermatologia Online - Year 2015, Vol 6, Issue 2
Abstract
Pachyonychia congenita (PC) is a rare Autosomal dominant genodermatosis characterized by hyperkeratosis affecting the nails and palmoplantar areas, oral leucokeratosis, and cystic lesions. Although 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 genes, respectively. We report a 10year-old male patient with a history of thickened, discoloured nails, raised spiny skin lesions all over the body since birth with focal plantar keratoderma and absence of natal teeth
Authors and Affiliations
Yugandar Inakanti, Venkata Thimmasarth, Shiva Kumar, Akshaya Nagaraj, Srilakshmi Peddireddy
Keywords
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- EP ID EP95206
- DOI 10.7241/ourd.20153.91
- Views 119
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