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Haim-Munk syndrome
Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease c...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
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Medknow Publications
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100867/ https://www.ncbi.nlm.nih.gov/pubmed/21760678 http://dx.doi.org/10.4103/0972-124X.75919 |
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author | Pahwa, Priyanka Lamba, Arundeep K. Faraz, Farrukh Tandon, Shruti |
author_facet | Pahwa, Priyanka Lamba, Arundeep K. Faraz, Farrukh Tandon, Shruti |
author_sort | Pahwa, Priyanka |
collection | PubMed |
description | Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, such as Papillon-Lefèvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome. |
format | Text |
id | pubmed-3100867 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Medknow Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-31008672011-07-14 Haim-Munk syndrome Pahwa, Priyanka Lamba, Arundeep K. Faraz, Farrukh Tandon, Shruti J Indian Soc Periodontol Case Report Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Recently, germline mutations in the lysosomal protease cathepsin C gene have been identified as the underlying genetic defect in Haim-Munk syndrome and in the clinically related disorders, such as Papillon-Lefèvre syndrome and prepubertal periodontitis. The periodontal disease associated with these syndromes is particularly aggressive and unresponsive to traditional periodontal therapies. As a result, most patients become edentulous by 15 years of age. This case report describes a patient with the cardinal features of Haim-Munk syndrome. Medknow Publications 2010 /pmc/articles/PMC3100867/ /pubmed/21760678 http://dx.doi.org/10.4103/0972-124X.75919 Text en © Journal of Indian Society of Periodontology http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Pahwa, Priyanka Lamba, Arundeep K. Faraz, Farrukh Tandon, Shruti Haim-Munk syndrome |
title | Haim-Munk syndrome |
title_full | Haim-Munk syndrome |
title_fullStr | Haim-Munk syndrome |
title_full_unstemmed | Haim-Munk syndrome |
title_short | Haim-Munk syndrome |
title_sort | haim-munk syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100867/ https://www.ncbi.nlm.nih.gov/pubmed/21760678 http://dx.doi.org/10.4103/0972-124X.75919 |
work_keys_str_mv | AT pahwapriyanka haimmunksyndrome AT lambaarundeepk haimmunksyndrome AT farazfarrukh haimmunksyndrome AT tandonshruti haimmunksyndrome |