Haim-Munk syndrome.

[papillon-lefèvre syndrome]

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 .