What is EB?
Epidermolysis bullosa (EB) is a rare, inherited (genetic), blistering skin disease that affects both sexes and all ethnic and racial groups. EB interferes with the proteins that connect the skin together, like Velcro, resulting in wounds. There are several forms of EB ranging from mild to severe. The main forms of EB are: EB Simplex, Junctional EB, and Dystrophic EB. Kindler syndrome is considered a “mixed” form of EB. Children with EB are known as “Butterfly Children” because their skin is as fragile as the wings of a butterfly.
Our team at Stanford has historically focused on recessive dystrophic EB (RDEB), though we treat and are conducting clinical trials for all types of EB. Click for information on our pre-clinical studies and clinical studies to date (including gene therapy).
Patients with RDEB are born lacking normal type VII collagen. RDEB patients develop a relentless, scarring EB subtype, which produces painful blisters and wounds on skin and mucous membranes (e.g. mouth, throat). Sometimes these wounds can persist for years. Wounds and body parts are covered extensively with special non-stick bandages, which can cost thousands of dollars per month. Dressing changes can take hours and need to be done daily to every other day. These wounds are at risk to become aggressive squamous cell carcinoma, which is a major cause of death.
RDEB also affects the rest of the body, causing strictures of the esophagus, abrasions in the eyes, webbing of the fingers, and many other symptoms. The incidence of RDEB is estimated to be about 1 to 2 per 1,000,000 people. With improvements in nutrition, wound care, and complication management RDEB patients can live into their 30s or 40s and beyond.
For more information, please click here for the Medscape chapter on EB, written by Dr. Peter Marinkovich (requires free registration).
Our physicians at Stanford and Stanford Children's have extensive experience in treating children and adults with EB. Our pediatric dermatologists that treat EB are Phuong Khuu, MD and Joyce Teng, MD, PhD. Adults with EB are seen in clinic by Peter Marinkovich, MD.
For more information about the EB Clinics at Stanford, please click here.
For information on resources available to EB patients, please click here.
COVID-19 and EB
For information and recomendations of DEBRA International regarding Covid-19 and EB, please click here.
EB Research at Stanford
The Department of Dermatology at the Stanford University School of Medicine has focused on EB research for over 30 years, with an emphasis on molecular therapies for RDEB. We have a team of researchers conducting studies and clinical trials for EB. Our research is funded by the National Institute of Health, the California Institute of Regenerative Medicine, several biotechnology companies, and a number of non-profit organizations focused on EB including:
Current approved therapy for EB consists of supportive care: wound care for the skin and additional treatments for the non-skin symptoms of EB. These include nutrition support, physical therapy, occupational therapy, social work support, as well as treatments for anemia, esophageal strictures, and mitten deformity (also called pseudosyndactyly).
The research scientists in the Dermatology Department at Stanford School of Medicine have focused on identifying new strategies for the treatment of EB.
For a list of our current studies, please click here.
For information about clinical studies to date (including our Phase 1 clinical trial of gene therapy for RDEB), please click here.
Stanford EB Videos
The Butterfly Effect
Peter Marinkovich, MD discusses EB research (2018)
Support EB Research
Your support will help us accomplish our goal to ease the suffering of EB patients much sooner. To make a donation now, please click on the button above.
If you wish to mail a donation, the addresses are listed below. Please make checks payable to “Stanford University” with a note designating your gift to the area of your choice.
Please make checks payable to “Stanford University” with a note designating your gift to the area of your choice.
P.O. Box 20466
Stanford, CA 94309
For More Information, Please Contact Development:
Kat Walsch, Senior Associate Director of Major Gifts
Medical Center Development
Phone: 650.724.9860 or Cell: 650.785.4511