Papillon Lefevre Syndrome

SynonymsPalmoplantar Keratoderma with Periodontosis Palmar-plantar Hyperkeratosis and Concomitant Periodontal Destruction Keratoris Palmoplantaris with Periodontopathia Hyperkeratosis Palmoplantaris with PeriodontosisDisorder SubdivisionsNoneGeneral 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).ResourcesNational Foundation for Ectodermal Dysplasias 410 East Main Street P.O. Box 114 Mascoutah, IL 62258-0114 Tel: (618)566-2020 Fax: (618)566-4718 Email: info@nfed.org Internet: http://www.nfed.org NIH/NationaI 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 Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx Internet: http://rarediseases.info.nih.gov/GARD For a Complete ReportThis 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:  5/15/2008Copyright  1996, 1997, 2000, 2001, 2004 National Organization for Rare Disorders, Inc.