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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2010-01-01
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| Series: | Journal of Indian Society of Periodontology |
| Subjects: | |
| Online Access: | http://www.jisponline.com/article.asp?issn=0972-124X;year=2010;volume=14;issue=3;spage=201;epage=203;aulast=Pahwa |
| _version_ | 1818481266179178496 |
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| author | Pahwa Priyanka Lamba Arundeep Faraz Farrukh Tandon Shruti |
| author_facet | Pahwa Priyanka Lamba Arundeep Faraz Farrukh Tandon Shruti |
| author_sort | Pahwa Priyanka |
| collection | DOAJ |
| 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-Lefθvre 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. |
| first_indexed | 2024-12-10T11:32:40Z |
| format | Article |
| id | doaj.art-8efd31f0d901436bbce716d9d1b4b746 |
| institution | Directory Open Access Journal |
| issn | 0972-124X 0975-1580 |
| language | English |
| last_indexed | 2024-12-10T11:32:40Z |
| publishDate | 2010-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Indian Society of Periodontology |
| spelling | doaj.art-8efd31f0d901436bbce716d9d1b4b7462022-12-22T01:50:32ZengWolters Kluwer Medknow PublicationsJournal of Indian Society of Periodontology0972-124X0975-15802010-01-01143201203Haim-Munk syndromePahwa PriyankaLamba ArundeepFaraz FarrukhTandon ShrutiHaim-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-Lefθvre 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.http://www.jisponline.com/article.asp?issn=0972-124X;year=2010;volume=14;issue=3;spage=201;epage=203;aulast=PahwaEarly onset periodontitisHaim-Munk syndromepalmoplantar keratosisPapillon-Lefθvre syndrome |
| spellingShingle | Pahwa Priyanka Lamba Arundeep Faraz Farrukh Tandon Shruti Haim-Munk syndrome Journal of Indian Society of Periodontology Early onset periodontitis Haim-Munk syndrome palmoplantar keratosis Papillon-Lefθvre 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 | Early onset periodontitis Haim-Munk syndrome palmoplantar keratosis Papillon-Lefθvre syndrome |
| url | http://www.jisponline.com/article.asp?issn=0972-124X;year=2010;volume=14;issue=3;spage=201;epage=203;aulast=Pahwa |
| work_keys_str_mv | AT pahwapriyanka haimmunksyndrome AT lambaarundeep haimmunksyndrome AT farazfarrukh haimmunksyndrome AT tandonshruti haimmunksyndrome |