Papillon-Lefevre syndrome: report of six patients and identification of a novel mutation


Tekin B., Yucelten D., Beleggia F., Sarig O., Sprecher E.

INTERNATIONAL JOURNAL OF DERMATOLOGY, vol.55, no.8, pp.898-902, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 55 Issue: 8
  • Publication Date: 2016
  • Doi Number: 10.1111/ijd.13297
  • Title of Journal : INTERNATIONAL JOURNAL OF DERMATOLOGY
  • Page Numbers: pp.898-902

Abstract

Papillon-Lefevre syndrome is an autosomal recessive genodermatosis typically manifesting with the constellation of palmoplantar keratoderma and progressive early-onset periodontitis. The cutaneous phenotype can be strikingly psoriasiform, possibly posing a diagnostic challenge. This rare disorder is caused by loss-of-function mutations in the CTSC gene, which encodes cathepsin C. We report six patients with Papillon-Lefevre syndrome from five consanguineous Turkish families, in whom genetic analysis of the CTSC gene revealed four recurrent mutations (c.415G>A; c.1015C>T; c.1019A>G; and c.103-105delCTG) and a novel missense mutation (c.117G>T) in the homozygous state.