Papillon-Lefèvre Syndrome with Homozygous Nonsense Mutation of Cathepsin C Gene Presenting with Late-Onset Periodontitis.

[papillon-lefèvre syndrome]

Papillon-Lefèvre syndrome (PLS ) is a rare autosomal recessive disorder of keratinization caused by homozygous mutations in the gene encoding lysosomal protease cathepsin C (CTSC ). It is clinically characterized by transgredient palmoplantar keratoderma (PPK ) and periodontitis . A 15 -year -old boy presenting with PPK from the age of 6 months and late-onset periodontitis that began at the age of 12 years is described . Mutation analysis revealed a homozygous nonsense mutation (p .Y 304 X ) in exon 7 of the CTSC gene . Late -onset periodontitis in a patient with Papillon-Lefèvre syndrome is a rare phenotypic variation .