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 |
| Summary: | 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. |
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| ISSN: | 0972-124X 0975-1580 |