Papillon Lefevre Syndrome

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
PO Box 114
Mascoutah, IL 62258-0114
Tel: (618)566-2020
Fax: (618)566-4718
Email: maryk@nfed.org
Internet: http://www.nfed.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 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/Health_Info

NIH/National Institute of Dental and Craniofacial Research
Tel: (301)496-4261
Fax: (301)496-9988
Email: nidcr@nih.gov
Internet: http://www.nidcr.nih.gov/

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: May 15, 2008

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