Papillon–Lefèvre Syndrome with Homozygous Nonsense Mutation of Cathepsin C Gene Presenting with Late-Onset Periodontitis
Article first published online: 3 JUN 2014
© 2015 Wiley Periodicals, Inc.
Volume 32, Issue 2, pages 292–294, March/April 2015
How to Cite
Ragunatha, S., Ramesh, M., Anupama, P., Kapoor, M. and Bhat, M. (2015), Papillon–Lefèvre Syndrome with Homozygous Nonsense Mutation of Cathepsin C Gene Presenting with Late-Onset Periodontitis. Pediatric Dermatology, 32: 292–294. doi: 10.1111/pde.12357
- Issue published online: 20 MAR 2015
- Article first published online: 3 JUN 2014
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.Y304X) in exon 7 of the CTSC gene. Late-onset periodontitis in a patient with Papillon-Lefèvre syndrome is a rare phenotypic variation.