Papillon Lefevre Syndrome

A new disease profile is added to our database – Papillon Lefevre Syndrome. The Papillon-Lefevre syndrome (PLS) is a rare genodermatosis of autosomal recessive inheritance manifesting as palmer plantar hyperkeratosis with periodontitis. Genetic analysis of several affected families (kindreds) suggests that the disorder may result from changes (mutations) of a gene that regulates production of an enzyme known as cathepsin C. The gene is located on the long arm (q) of chromosome 11 (11q14). The profile was written by our consultant in dental medecine – Dr. Vesela Stefanova, DD.