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    Epidermolysis Bullosa

    Important
    It is possible that the main title of the report Epidermolysis Bullosa 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

    • EB

    Disorder Subdivisions

    • epidermolysis bullosa simplex
    • junctional epidermolysis bullosa
    • dystrophic epidermolysis bullosa
    • Kindler syndrome

    General Discussion

    Epidermolysis bullosa (EB) is a genetic skin disorder characterized clinically by blister formation from mechanical trauma. There are four main types with additional sub-types identified. There is a spectrum of severity, and within each type, one may be either mildly or severely affected. EB ranges from being a minor inconvenience requiring modification of some activities, to being completely disabling and, in some cases, fatal.

    Friction causes blister formation. Blisters can form anywhere on the surface of the skin, within the oral cavity and in more severe forms may also involve the external surface of the eye, as well as the respiratory, gastrointestinal and genitourinary tracts. In some forms of the disease, disfiguring scars and disabling musculoskeletal deformities occur.

    Currently, there is no cure for EB. Supportive care includes daily wound care, bandaging, and pain management as needed.

    Resources

    Dystrophic Epidermolysis Bullosa Research Association of America, Inc. (DEBRA)
    16 East 41st Street
    3rd Floor
    New York, NY 10017
    Tel: (212)868-1573
    Fax: (212)868-9296
    Tel: (866)332-7276
    Email: staff@debra.org
    Internet: http://www.debra.org

    Oley Foundation
    214 Hun Memorial MC-28
    Albany Medical Center
    Albany, NY 12208-3478
    USA
    Tel: (518)262-5079
    Fax: (518)262-5528
    Tel: (800)776-6539
    Email: dahlr@mail.amc.edu
    Internet: http://www.oley.org

    Coalition for Heritable Disorders of Connective Tissue (CHDCT)
    4301 Connecticut Avenue, NW Suite 404
    Washington, DC 20008
    Tel: (202)362-9599
    Fax: (202)966-8553
    Tel: (800)778-7171
    Email: chdct@pxe.org
    Internet: http://www.chdct2.org/

    DebRA
    13 Wellington Business Park
    Dukes Ride
    Crowthorne
    Berkshire, RG45 6LS
    United Kingdom
    Tel: 441344771961
    Fax: 441344762661
    Email: debra@debra.org.uk
    Internet: http://www.debra.org.uk

    EB Medical Research Foundation
    2757 Anchor Ave
    Los Angeles, CA 90064
    Tel: (310)854-0957
    Email: a.pett@bep-la.com
    Internet: http://www.ebkids.org

    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/

    Epidermolysis Bullosa Action Network
    16613 Milan De Avila
    Tampa, FL 33613
    Tel: (813)325-1955
    Email: silvia@ebanusa.org
    Internet: http://www.ebanusa.org

    Australasian Blistering Diseases Foundation
    St. George Hospital,
    Department of Dermatology
    Gray Street
    Kogarah
    Sydney, NSW 2217
    Australia
    Tel: 0291132088
    Fax: 0291132886
    Email: info@blisters.org.au
    Internet: http://www.blisters.org.au/BDHome.html

    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: 6/27/2013
    Copyright 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993, 1994, 1995, 1996, 1997, 1999, 2002, 2005, 2006, 2007, 2008, 2009, 2013 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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