Open AccessHaim-Munk syndrome
Author(s) -
Priyanka Pahwa,
Arundeep Kaur Lamba,
Farrukh Faraz,
Shruti Tandon
Publication year - 2010
Publication title -
journal of indian society of periodontology (print)/journal of indian society of periodontology (online)
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.309
H-Index - 28
eISSN - 0975-1580
pISSN - 0972-124X
DOI - 10.4103/0972-124x.75919
Subject(s) - medicine , dermatology , periodontitis , palmoplantar keratoderma , genetic disorder , cathepsin c , hyperkeratosis , pathology , disease , cathepsin d , biology , biochemistry , enzyme
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.