Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype.

[papillon-lefèvre syndrome]

Papillon-Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction . The additional findings of Haim Munk Syndrome include onychogryphosis , arachnodactyly , acral osteolysis and pes planus . Both are associated with mutations in the lysosomal protease cathepsin C . We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C .