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Pachyonychia congenita: A rare genodermatosis

Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy...

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Autores principales: Agarwal, Puneet, Chhaperwal, Mahendra K., Singh, Apurva, Verma, Arvind, Nijhawan, Manisha, Singh, Kishore, Mathur, Dinesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3752484/
https://www.ncbi.nlm.nih.gov/pubmed/23984242
http://dx.doi.org/10.4103/2229-5178.115527
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author Agarwal, Puneet
Chhaperwal, Mahendra K.
Singh, Apurva
Verma, Arvind
Nijhawan, Manisha
Singh, Kishore
Mathur, Dinesh
author_facet Agarwal, Puneet
Chhaperwal, Mahendra K.
Singh, Apurva
Verma, Arvind
Nijhawan, Manisha
Singh, Kishore
Mathur, Dinesh
author_sort Agarwal, Puneet
collection PubMed
description Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis in palms and soles with maceration and malodour since childhood. She had a positive family history with father and grandfather affected but less severely. Microscopy and culture of nail clippings and scrapping were done to rule out fungal infection. On biopsy acanthotic epidermis, parakeratosis, orthokeratosis were seen. No evidence of any associated malignancy was found after thorough workup. She was diagnosed as PC Type 1. She was put on topical steroids and orally on acetretin 25 mg OD. Paring of the nails was done too reduce the thickness of nails & to provide symptomatic relief. She was on a regular treatment for 3-4 months and showed some improvement in the form of reduced palmoplantar hyperkeratosis and reduced oral punctate keratosis but was later lost on followup. She showed no adverse effect to therapy during this period. This case is being reported because of its rarity.
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spelling pubmed-37524842013-08-27 Pachyonychia congenita: A rare genodermatosis Agarwal, Puneet Chhaperwal, Mahendra K. Singh, Apurva Verma, Arvind Nijhawan, Manisha Singh, Kishore Mathur, Dinesh Indian Dermatol Online J Case Report Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis in palms and soles with maceration and malodour since childhood. She had a positive family history with father and grandfather affected but less severely. Microscopy and culture of nail clippings and scrapping were done to rule out fungal infection. On biopsy acanthotic epidermis, parakeratosis, orthokeratosis were seen. No evidence of any associated malignancy was found after thorough workup. She was diagnosed as PC Type 1. She was put on topical steroids and orally on acetretin 25 mg OD. Paring of the nails was done too reduce the thickness of nails & to provide symptomatic relief. She was on a regular treatment for 3-4 months and showed some improvement in the form of reduced palmoplantar hyperkeratosis and reduced oral punctate keratosis but was later lost on followup. She showed no adverse effect to therapy during this period. This case is being reported because of its rarity. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3752484/ /pubmed/23984242 http://dx.doi.org/10.4103/2229-5178.115527 Text en Copyright: © Indian Dermatology Online Journal http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Agarwal, Puneet
Chhaperwal, Mahendra K.
Singh, Apurva
Verma, Arvind
Nijhawan, Manisha
Singh, Kishore
Mathur, Dinesh
Pachyonychia congenita: A rare genodermatosis
title Pachyonychia congenita: A rare genodermatosis
title_full Pachyonychia congenita: A rare genodermatosis
title_fullStr Pachyonychia congenita: A rare genodermatosis
title_full_unstemmed Pachyonychia congenita: A rare genodermatosis
title_short Pachyonychia congenita: A rare genodermatosis
title_sort pachyonychia congenita: a rare genodermatosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3752484/
https://www.ncbi.nlm.nih.gov/pubmed/23984242
http://dx.doi.org/10.4103/2229-5178.115527
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