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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doaj-fb6ad6459de34803827682adfc7de7862020-11-24T20:59:56ZengOur Dermatology OnlineNasza Dermatologia Online2081-93902081-93902015-07-016233934210.7241/ourd.20153.91Pachyonychia Congenita type 1 – A peerless entityYugandar Inakanti0Venkata Narsimha Rao Thimmasarthi1Shiva Kumar2Akshaya Nagaraj3Srilakshmi Peddireddy4Department of Dermatology, Venerology and Leprosy, P.E.S. Medical College, Kuppam, India, Department of Dermatology, Venerology and Leprosy, Guntur Medical College, Guntur, IndiaDepartment of Dermatology, Venerology and Leprosy, P.E.S. Medical College, Kuppam, India, Department of Dermatology, Venerology and Leprosy, P.E.S. Medical College, Kuppam, India, Department of Dermatology, Venerology and Leprosy, P.E.S. Medical College, Kuppam, India, 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.http://www.odermatol.com/issue-in-html/2015-3-22/Jadassohn-lewandowsky syndrome; keratins; nails; pachyonychia congenita; palmoplantar keratoderma |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Yugandar Inakanti Venkata Narsimha Rao Thimmasarthi Shiva Kumar Akshaya Nagaraj Srilakshmi Peddireddy |
spellingShingle |
Yugandar Inakanti Venkata Narsimha Rao Thimmasarthi Shiva Kumar Akshaya Nagaraj Srilakshmi Peddireddy Pachyonychia Congenita type 1 – A peerless entity Nasza Dermatologia Online Jadassohn-lewandowsky syndrome; keratins; nails; pachyonychia congenita; palmoplantar keratoderma |
author_facet |
Yugandar Inakanti Venkata Narsimha Rao Thimmasarthi Shiva Kumar Akshaya Nagaraj Srilakshmi Peddireddy |
author_sort |
Yugandar Inakanti |
title |
Pachyonychia Congenita type 1 – A peerless entity |
title_short |
Pachyonychia Congenita type 1 – A peerless entity |
title_full |
Pachyonychia Congenita type 1 – A peerless entity |
title_fullStr |
Pachyonychia Congenita type 1 – A peerless entity |
title_full_unstemmed |
Pachyonychia Congenita type 1 – A peerless entity |
title_sort |
pachyonychia congenita type 1 – a peerless entity |
publisher |
Our Dermatology Online |
series |
Nasza Dermatologia Online |
issn |
2081-9390 2081-9390 |
publishDate |
2015-07-01 |
description |
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. |
topic |
Jadassohn-lewandowsky syndrome; keratins; nails; pachyonychia congenita; palmoplantar keratoderma |
url |
http://www.odermatol.com/issue-in-html/2015-3-22/ |
work_keys_str_mv |
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