In:
Pediatric Dermatology, Wiley, Vol. 32, No. 2 ( 2015-03), p. 292-294
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0736-8046
,
1525-1470
DOI:
10.1111/pde.2015.32.issue-2
Language:
English
Publisher:
Wiley
Publication Date:
2015
detail.hit.zdb_id:
2020833-9
Bookmarklink