Journal of Indian Society of Periodontology
Journal of Indian Society of Periodontology
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CASE REPORT
Year : 2010  |  Volume : 14  |  Issue : 3  |  Page : 201-203

Haim-Munk syndrome


Department of Periodontics and Oral Implantology, Maulana Azad Institute of Dental Sciences, University of Delhi, Government of National Capital Territory of Delhi, India

Correspondence Address:
Priyanka Pahwa
371, S.F.S, DDA Flats, Mukherjee Nagar, Delhi - 110 009
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-124X.75919

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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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