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Papillon Lefèvre Syndrome

Abstract

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Synonyms of Papillon Lefèvre Syndrome

  • Hyperkeratosis Palmoplantaris with Periodontosis
  • Keratoris Palmoplantaris with Periodontopathia
  • Palmar-plantar Hyperkeratosis and Concomitant Periodontal Destruction
  • Palmoplantar Keratoderma with Periodontosis

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Papillon-Lefèvre Syndrome (PLS) is an extremely rare genetic disorder that typically becomes apparent from approximately one to five years of age. PLS is characterized by the development of dry scaly patches on the skin of the palms and the soles (palmar-plantar hyperkeratosis) in association with severe inflammation and degeneration of the structures surrounding and supporting the teeth (periodontium). The primary (deciduous) teeth frequently become loose and fall out by about age five. Without treatment, most of the secondary (permanent) teeth may also be lost by approximately age 17. Additional symptoms and findings associated with PLS may include frequent pus-producing (pyogenic) skin infections, abnormalities of the nails (nail dystrophy), and excessive perspiration (hyperhidrosis).

Papillon-Lefèvre Syndrome is transmitted as an autosomal recessive trait. Genetic analysis of several affected families (kindreds) suggests that the disorder may result from changes (mutations) of a gene that regulates production of an enzyme known as cathespin C. The gene is located on the long arm (q) of chromosome 11 (11q14).

Organizations related to Papillon Lefèvre Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., dental and skin abnormalities, etc.].

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