Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings.

[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 , Papillon-Lefèvre syndrome and prepubertal periodontitis .