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Papillon-Lefèvre syndrome

Disease definition

Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

ORPHA:678

  • Synonym(s):
    • Keratosis palmoplantar-periodontopathy syndrome
    • PLS
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: 245000
  • UMLS: C0030360
  • MeSH: D010214
  • GARD: 3100
  • MedDRA: -

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