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
EB may be caused by changes (
A condition is autosomal dominant if having only one changed (
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
Epidermolysis bullosa acquisita (an acquired form of EB) is a rare autoimmune disorder and is not inherited.
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.
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.
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.
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.
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.
NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
Gene Therapy Creates Replacement Skin to Save a Dying Boy
November 16, 2017
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