%0 Journal Article
%T Haim-Munk syndrome
%A Pahwa Priyanka
%A Lamba Arundeep
%A Faraz Farrukh
%A Tandon Shruti
%J Journal of the Indian Society of Periodontology
%D 2010
%I Medknow Publications
%X 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-Lef¦Èvre 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.
%K Early onset periodontitis
%K Haim-Munk syndrome
%K palmoplantar keratosis
%K Papillon-Lef¦Èvre syndrome
%U http://www.jisponline.com/article.asp?issn=0972-124X;year=2010;volume=14;issue=3;spage=201;epage=203;aulast=Pahwa