Pachyonychia Congenita type 1 – A peerless entity

Pachyonychia Congenita type 1 – A peerless entity

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 (Jackso...

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Bibliographic Details
Main Authors: Yugandar Inakanti, Venkata Narsimha Rao Thimmasarthi, Shiva Kumar, Akshaya Nagaraj, Srilakshmi Peddireddy
Format: Article
Language:English
Published: Our Dermatology Online 2015-07-01
Series:Nasza Dermatologia Online
Subjects:
Jadassohn-lewandowsky syndrome; keratins; nails; pachyonychia congenita; palmoplantar keratoderma
Online Access:http://www.odermatol.com/issue-in-html/2015-3-22/
Description
Summary: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 10 year-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.
ISSN:2081-9390
2081-9390

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