Cargando…
Papillon-Lefevre syndrome: A report of two cases
Papillon-Lefevre syndrome is a rare (1-4 cases per million) autosomal recessive disorder showing predominantly oral and dermatological manifestations in the form of aggressive periodontitis affecting both primary and permanent dentition and palmoplantar hyperkeratosis. Genetic studies have shown tha...
Autores principales: | , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118082/ https://www.ncbi.nlm.nih.gov/pubmed/21731257 http://dx.doi.org/10.4103/0972-124X.76934 |
_version_ | 1782206411318493184 |
---|---|
author | Rathod, Varsha J. Joshi, Nilesh V. |
author_facet | Rathod, Varsha J. Joshi, Nilesh V. |
author_sort | Rathod, Varsha J. |
collection | PubMed |
description | Papillon-Lefevre syndrome is a rare (1-4 cases per million) autosomal recessive disorder showing predominantly oral and dermatological manifestations in the form of aggressive periodontitis affecting both primary and permanent dentition and palmoplantar hyperkeratosis. Genetic studies have shown that mutations in the major gene locus of chromosome 11q14 with loss of function of cathepsin C gene are responsible for Papillon-Lefevre syndrome. This report presents two siblings with classic signs and symptoms of Papillon-Lefevre syndrome. The exact cause for periodontal destruction in patients with Papillon-Lefevre syndrome is not known but it is thought to be due to defect in neutrophil function, immune suppression and mutations in cathepsin C gene. |
format | Online Article Text |
id | pubmed-3118082 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-31180822011-06-30 Papillon-Lefevre syndrome: A report of two cases Rathod, Varsha J. Joshi, Nilesh V. J Indian Soc Periodontol Case Report Papillon-Lefevre syndrome is a rare (1-4 cases per million) autosomal recessive disorder showing predominantly oral and dermatological manifestations in the form of aggressive periodontitis affecting both primary and permanent dentition and palmoplantar hyperkeratosis. Genetic studies have shown that mutations in the major gene locus of chromosome 11q14 with loss of function of cathepsin C gene are responsible for Papillon-Lefevre syndrome. This report presents two siblings with classic signs and symptoms of Papillon-Lefevre syndrome. The exact cause for periodontal destruction in patients with Papillon-Lefevre syndrome is not known but it is thought to be due to defect in neutrophil function, immune suppression and mutations in cathepsin C gene. Medknow Publications & Media Pvt Ltd 2010 /pmc/articles/PMC3118082/ /pubmed/21731257 http://dx.doi.org/10.4103/0972-124X.76934 Text en Copyright: © Journal of Indian Society of Periodontology 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 Rathod, Varsha J. Joshi, Nilesh V. Papillon-Lefevre syndrome: A report of two cases |
title | Papillon-Lefevre syndrome: A report of two cases |
title_full | Papillon-Lefevre syndrome: A report of two cases |
title_fullStr | Papillon-Lefevre syndrome: A report of two cases |
title_full_unstemmed | Papillon-Lefevre syndrome: A report of two cases |
title_short | Papillon-Lefevre syndrome: A report of two cases |
title_sort | papillon-lefevre syndrome: a report of two cases |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118082/ https://www.ncbi.nlm.nih.gov/pubmed/21731257 http://dx.doi.org/10.4103/0972-124X.76934 |
work_keys_str_mv | AT rathodvarshaj papillonlefevresyndromeareportoftwocases AT joshinileshv papillonlefevresyndromeareportoftwocases |