%0 Case Reports
%T Haim-Munk syndrome.
%A Pahwa P
%A Lamba AK
%A Faraz F
%A Tandon S
%J J Indian Soc Periodontol
%V 14
%N 3
%D Jul 2010
%M 21760678
暂无%R 10.4103/0972-124X.75919
%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-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.