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

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 pres...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric dermatology 2015-03, Vol.32 (2), p.292-294
Main Authors: Ragunatha, Shivanna, Ramesh, Mudalagirigowda, Anupama, Panagar, Kapoor, Meenakshi, Bhat, Meenakshi
Format: Article
Language:English
Subjects:
Adolescent
Cathepsin C - genetics
Codon, Nonsense
DNA Mutational Analysis
Gene Expression Regulation
Genetic Predisposition to Disease
Homozygote
Humans
Male
Papillon-Lefevre Disease - genetics
Papillon-Lefevre Disease - physiopathology
Periodontitis - genetics
Periodontitis - physiopathology
Prognosis
Rare Diseases
Risk Assessment
Time Factors
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.12357