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...

Full description

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:
Online Access:http://www.odermatol.com/issue-in-html/2015-3-22/
id doaj-fb6ad6459de34803827682adfc7de786
record_format Article
spelling 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 AT yugandarinakanti pachyonychiacongenitatype1apeerlessentity
AT venkatanarsimharaothimmasarthi pachyonychiacongenitatype1apeerlessentity
AT shivakumar pachyonychiacongenitatype1apeerlessentity
AT akshayanagaraj pachyonychiacongenitatype1apeerlessentity
AT srilakshmipeddireddy pachyonychiacongenitatype1apeerlessentity
_version_ 1716780985805176832