Definition
Epidermolysis bullosa (EB) is a group of rare, inherited skin problems. It makes the skin very easily damaged. Even light contact can cause painful blistering.
There are different types of EB. The severity of symptoms can vary among types.
Causes
EB is caused by a genetic defect. It may be passed from one or both parents. The genetic change may also randomly develop in someone.
Rarely, EB may happen when a person’s immune system attacks healthy cells. It is not known why this happens.
Symptoms
A person with EB has fragile skin. It can be damaged easily from touch or activity. This causes painful blisters that are common on the palms of the hands and soles of the feet. Blisters can also happen in tissue that lines the mouth, eyes, intestines, and other areas.
Diagnosis
You will be asked about your symptoms and past health. You may also be asked about your family history. A physical exam will be done. It will focus on the skin.
Tests may include:
- A skin biopsy of a blister to look for signs of EB
- Blood tests to look for the gene linked to EB
Treatment
There is no cure. The goal of treatment is to manage symptoms. Options are:
- Wound care to decrease risk of infection
- Medicine to ease pain
- Taking steps to prevent skin injury, such as wearing loose clothing
RESOURCES
American Academy of Dermatology https://www.aad.org
National Organization of Rare Disorders https://www.rarediseases.org
CANADIAN RESOURCES
Canadian Dermatology Association https://www.dermatology.ca
Health Canada https://www.canada.ca
References
Epidermolysis bullosa. National Organization for Rare Disorders website. Available at: https://rarediseases.org/rare-diseases/epidermolysis-bullosa. Accessed May 18, 2021.
Epidermolysis bullosa. NHS website. Available at: https://www.nhs.uk/conditions/epidermolysis-bullosa. Accessed May 18, 2021.
Epidermolysis bullosa acquisita. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/epidermolysis-bullosa-acquisita. Accessed July 12, 2021.
Inherited epidermolysis bullosa. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/inherited-epidermolysis-bullosa. Accessed July 12, 2021.
Revision Information
- Reviewer: EBSCO Medical Review Board Daniel A. Ostrovsky, MD
- Update Date: 09/29/2021