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Papillon-Lefevre syndrome (keratosis palmoplantaris with periodontopathia)

Epidemiology: - mainly detected by dentists because of severe periodontitis Genetics: - autosomal recessive - associated with defects in CTSC Clinical manifestations: - severe periodontitis: both deciduous & permanent dentitions are affected, resulting in premature tooth loss - palmoplantar keratosis, varying from mild psoriasiform scaly skin to overt hyperkeratosis - typically develops within the 1st 3 years of life - keratosis also affects other sites such as elbows & knees

Related

Haim-Munk syndrome; keratosis palmoplantaris with periodontopathia; onychogryposis; Cochin Jewish disorder

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 245000

References

  1. OMIM :accession 245000
  2. UniProt :accession P53634