Papillon Lefèvre Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Papillon Lefèvre 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-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).

Resources

National Foundation for Ectodermal Dysplasias
6 Execuitive Drive
Suite 2
Fairview Hiights, IL 62208
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.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.

First Nurse

First Nurse

Call First Nurse 24 Hours a Day for free health care advice, resources and referrals!

Ames: 515-239-6877
In Iowa: 800-524-6877 

Search health information online in our Mulimedia Health Library.

High Quality Care

Guardian of Excellence

Mary Greeley consistently delivers high quality patient care.

  • 2013 Guardian of Excellence Award for Clinical Quality
  • Grade 'A' Patient Safety from the Leapfrog Group
  • 2013 Top Performer on Key Quality Measures ranking from The Joint Commission
  • Highest percentage bonus of any Iowa hospital in Medicare's quality incentive program

Mary Greeley on Facebook

Like us on Facebook

Patient Privacy | Net Learning for Employees | MGMC PACS for Physicians
Emergency Preparedness

1111 Duff Avenue Ames, IA 50010 - 515-239-2011 - yourhealth.mgmc@mgmc.com

©2014 Mary Greeley Medical Center - All rights reserved.