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, cilt.55, sa.8, ss.898-902, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 8
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1111/ijd.13297
  • Dergi Adı: INTERNATIONAL JOURNAL OF DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.898-902
  • Marmara Üniversitesi Adresli: Evet

Özet

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.