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Papillon Lefevre Syndrome

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

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

Disorder Subdivisions

  • None

General Discussion

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).

Resources

National Foundation for Ectodermal Dysplasias
410 East Main Street
Mascoutah, IL 62258-0114
Tel: (618)566-2020
Fax: (618)566-4718
Email: info@nfed.org
Internet: http://www.nfed.org

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/

NIH/National Institute of Dental and Craniofacial Research
Building 31, Room 2C39,
31 Center Drive, MSC 2290
Bethesda, MD 20892
USA
Tel: (301)496-4261
Fax: (301)480-4098
Tel: (866)232-4528
Email: nidcrinfo@mail.nih.gov
Internet: http://www.nidcr.nih.gov/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  5/15/2008
Copyright  1996, 1997, 2000, 2001, 2004 National Organization for Rare Disorders, Inc.

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