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Diseases

Genetic and Rare Diseases Information Center (GARD)

Epidermolysis bullosa


Overview

Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching.[1] There are four main types of epidermolysis bullosa:[2]

Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases.[3] Most types of EB are inherited.[2][4] The inheritance pattern may be autosomal dominant or autosomal recessive.[2] Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.[3]

Last updated: 10/14/2014

References

  1. Epidermolysis bullosa simplex. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=epidermolysisbullosasimplex. Accessed 4/22/2010.
  2. Berman K. Epidermolysis bullosa. MedlinePlus. 2008; http://www.nlm.nih.gov/medlineplus/ency/article/001457.htm. Accessed 4/22/2010.
  3. Epidermolysis bullosa. NORD. June 27, 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1/viewAbstract. Accessed 10/14/2014.
  4. Epidermolysis bullosa. MayoClinic.com. 2009; http://www.mayoclinic.com/health/epidermolysis-bullosa/DS01015/METHOD=print. Accessed 4/22/2010.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • The Mayo Clinic Web site provides further information on Epidermolysis bullosa.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Epidermolysis bullosa. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • EB
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