Papillon Lefèvre Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Papillon Lefèvre Syndrome is not the name you expected.
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).
Genetic and Rare Diseases (GARD) Information Center
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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NIH/National Institute of Dental and Craniofacial Research
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National Foundation for Ectodermal Dysplasias
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 5/15/2008
Copyright 2004 National Organization for Rare Disorders, Inc.
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