Papillon Lefevre Syndrome
It is possible that the main title of the report Papillon Lefevre Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Palmoplantar Keratoderma with Periodontosis
- Palmar-plantar Hyperkeratosis and Concomitant Periodontal Destruction
- Keratoris Palmoplantaris with Periodontopathia
- Hyperkeratosis Palmoplantaris with Periodontosis
Papillon-Lefevre 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-Lefevre 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).
National Foundation for Ectodermal Dysplasias
410 East Main Street
Mascoutah, IL 62258-0114
NIH/NationaI Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Institute of Dental and Craniofacial Research
Building 31, Room 2C39,
31 Center Drive, MSC 2290
Bethesda, MD 20892
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126