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NORD is very grateful to Anne W. Lucky, MD, Children's Hospital of Cincinnati, Brett Koplen, Executive Director, DebRA of America, Inc., and Geraldine Kelly-Mancuso, RN, DEBRA Nurse Educator, Cincinnati Children's Hospital Medical Center, for assistance in the preparation of this report.
Synonyms of Epidermolysis Bullosa
- dystrophic epidermolysis bullosa
- epidermolysis bullosa simplex
- junctional epidermolysis bullosa
- Kindler syndrome
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.
Epidermolysis Bullosa Resources
NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.
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