Clinical, genetic, and biochemical findings in two siblings with Papillon-Lefèvre Syndrome.

Cagli N. A., Hakki S. S., Dursun R., Toy H., Gokalp A., Ryu O. H., ...More

Journal of periodontology, vol.76, pp.2322-9, 2005 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 76
  • Publication Date: 2005
  • Doi Number: 10.1902/jop.2005.76.12.2322
  • Journal Name: Journal of periodontology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.2322-9
  • Keywords: cathepsin C, cathepsin G, elastase, gene mutation, Papillon-Lefevre Syndrome, CATHEPSIN-C GENE, FOLLOW-UP, PERIODONTAL-DISEASE, PREPUBERTAL PERIODONTITIS, AGGRESSIVE PERIODONTITIS, MUTATIONS, KERATOSIS, IDENTIFICATION, DEFICIENCY, THERAPY
  • Akdeniz University Affiliated: No

Abstract

Background: Papillon-Lefevre Syndrome (PLS) is an autosomal recessive disease characterized by palmoplantar hyperkeratosis and severe periodontitis affecting both primary and secondary dentitions. Cathepsin C (CTSC) gene mutations are etiologic for PLS. The resultant loss of CTSC function is responsible for the severe periodontal destruction seen clinically.