Eponym: Papillon-Lefevre syndrome

Eur J Pediatr. 2011 Jun;170(6):689-91. doi: 10.1007/s00431-010-1367-4. Epub 2010 Dec 17.


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.

Publication types

  • Review

MeSH terms

  • Cathepsin C / genetics*
  • Child
  • Early Diagnosis
  • Eponyms*
  • Humans
  • Papillon-Lefevre Disease / diagnosis*
  • Papillon-Lefevre Disease / genetics
  • Papillon-Lefevre Disease / therapy*
  • Point Mutation
  • Prognosis


  • Cathepsin C