National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Epidermolysis bullosa

Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister and erode very easily. In people with EB, blisters form in response to minor injuries or friction, such as rubbing or scratching.[2310] There are four main types of EB, which are classified based on the depth, or level, of blister formation:[1]

EB may then be further classified based on severity and specific symptoms, such as distribution (localized or generalized) and whether parts of the body other than the skin are affected. Specific sub-types may then be determined based on identifying the exact protein that is defective in a person with EB. This may be done by tests performed on a skin biopsy, or when possible, genetic testing.[1] Identifying the exact sub-type can be hard because there are many sub-types of EB. A person with any main type of EB may be mildly or severely affected, and the disease can range from being a minor inconvenience requiring modifying activities, to completely disabling and even fatal in some cases.[2]

EB may be caused by changes (mutations) in at least 18 genes that play various roles in the structure, integrity, and repair of the skin. Inheritance may be autosomal dominant or autosomal recessive depending on the type and subtype of EB a person has.[1] Management involves a multidisciplinary team of health care providers and involves wound care, pain control, controlling infections, nutritional support, and prevention and treatment of complications.[3]

Last updated: 4/18/2018
Inheritance of epidermolysis bullosa (EB) may be either autosomal dominant or autosomal recessive, depending on the type and subtype of inherited EB present:

A condition is autosomal dominant if having only one changed (mutated) copy of the responsible gene in each cell is enough to cause symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% chance to inherit the mutated copy of the gene. While many people with an autosomal dominant form of EB have a parent with EB, some cases result from a new mutation, occurring for the first time (called a de novo mutation). A person with a de novo mutation still has a 50% chance to pass the mutation on to each of his/her children.

In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene in each cell to have EB. Typically, a person with EB inherits one mutated copy of the gene from each parent, who are referred to as carriers. Carriers usually do not have symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% chance to be affected, a 50% chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.

Epidermolysis bullosa acquisita (an acquired form of EB) is a rare autoimmune disorder and is not inherited.

Last updated: 4/18/2018
Managing EB requires a multidisciplinary team of health care providers including a dermatologist, EB nurse who specializes in wound care, occupational therapist, nutritionist, and social worker. Various other specialists may be consulted as needed. Management should be individualized for each person depending on their age, severity, symptoms, complications, and priorities.

While there currently is no specific therapy for most forms of epidermolysis bullosa (EB), extensive clinical research regarding potential treatments is ongoing. At this time, management is mostly supportive and involves wound care, pain control, controlling infections, nutritional support, and prevention and treatment of complications. Monitoring for complications with laboratory testing and imaging studies is also important, although the frequency of these tests will vary depending on the type of EB and severity in each person. Newborns with EB should be taken care of in a neonatal or pediatric unit that has the expertise, staffing, and resources necessary to manage severe skin erosions and potential complications.

More detailed information about the treatment and management of EB can be viewed here on Medscape Reference's website. You may need to register to view the information, but registration is free.
Last updated: 4/17/2018

Management Guidelines

  • DebRA International has developed clinical practice guidelines for epidermolysis bullosa which provide recommendations for clinical care. These clinical guidelines are for patients as well as healthcare professionals.
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Epidermolysis bullosa. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Epidermolysis bullosa. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Epidermolysis bullosa:
    EBCare Registry
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for Epidermolysis bullosa.

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Parent and Caregiver Resources

  • In this NCATS Video Profile, Joe Murray shares his daughter’s experience with epidermolysis bullosa.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
    Epidermolysis Bullosa Simplex
    Dystrophic Epidermolysis Bullosa
    Junctional Epidermolysis Bullosa
    Kindler Syndrome
    Epidermolysis Bullosa with Pyloric Atresia
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have a son with epidermolysis bullosa and I would like to know if there are any dietary recommendations. See answer

  • I have a "mild" form of EB. Diagnosed at 8 years old. Peeling and blistering of fingers/feet. If I pass this gene on to my child will they also have a mild form or will it be a severe form of EB? Neither one of my parents have this disease, nor do my siblings. See answer

  • My mother has had epidermolysis bullosa for many years. She recently underwent total knee replacement surgery and another surgery to flush out a staph infection and has had wound healing problems, including pus, redness and fever. We are concerned about complications from infection and wanted to know if there is any research related to wound healing in patients with epidermolysis bullosa. Where can we read more information about treatment? How can we find a physician who is knowledgeable about this condition? See answer


  1. Laimer M, Bauer J, Murrell DF. Epidemiology, pathogenesis, classification, and clinical features of epidermolysis bullosa. UpToDate. Waltham, MA: UpToDate; June 21, 2017; https://www.uptodate.com/contents/epidemiology-pathogenesis-classification-and-clinical-features-of-epidermolysis-bullosa.
  2. Epidermolysis bullosa. NORD. June 27, 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1/viewAbstract. Accessed 10/14/2014.
  3. Murrell DF. Overview of the management of epidermolysis bullosa. UpToDate. Waltham, MA: UpToDate; February 28, 2018; https://www.uptodate.com/contents/overview-of-the-management-of-epidermolysis-bullosa.
  4. Intong LR, Murrell DF. Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clin Dermatol. January-February, 2012; 30(1):70-77.