{Reference Type}: Case Reports
{Title}: Haim-Munk syndrome.
{Author}: Pahwa P;Lamba AK;Faraz F;Tandon S;
{Journal}: J Indian Soc Periodontol
{Volume}: 14
{Issue}: 3
{Year}: Jul 2010
暂无{DOI}: 10.4103/0972-124X.75919
{Abstract}: 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.