Eponym Papillon-Lefevre syndrome

DALGIÇ B., Bukulmez A., SARI S.

EUROPEAN JOURNAL OF PEDIATRICS, cilt.170, sa.6, ss.689-691, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 170 Sayı: 6
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1007/s00431-010-1367-4
  • Dergi Adı: EUROPEAN JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.689-691
  • Anahtar Kelimeler: Papillon-Lefevre syndrome, Palmoplantar keratosis, Periodontitis, Cathepsin C gene, CATHEPSIN-C GENE, ETRETINATE TREATMENT, LOCALIZATION, MUTATIONS
  • Gazi Üniversitesi Adresli: Evet

Özet

Papillon-Lefevre Syndrome (PLS) is a very rare autosomal recessive disorder characterized by palmoplantar hyperkeratosis and severe early onset periodontitis, affecting the primary and permanent dentition. The syndrome was first described by Papillon and Lefevre in 1924. Genetic, immunologic, and microbiologic factors are suggested as responsible for the initiation and progression of the disease. A point mutation of cathepsin C gene has recently been detected in PLS. A multidisciplinary approach is important for management .The prognosis has improved with the early recognition of the syndrome, effective professional supervision, and home care.