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Epidermolysis Bullosa

National Organization for Rare Disorders, Inc.

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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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

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