Epidermolysis Bullosa: Causes, Symptoms, and Treatment
Medically reviewed by Sumiran Racherla, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Epidermolysis Bullosa?
A dermatologist, a doctor who treats conditions of the skin, hair, and nails, often leads care for epidermolysis bullosa. A clinical geneticist, a doctor who diagnoses and treats inherited disorders, may also help. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is epidermolysis bullosa?
Epidermolysis bullosa (EB) is a group of rare diseases that cause the skin to be fragile and to blister easily. Tears, sores, and blisters happen when something rubs or bumps the skin. They can appear anywhere on the body. In severe cases, blisters and sores can also form inside the body, such as in the mouth, esophagus (the food tube), stomach, and intestines.
There are four major types: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome. A fifth type, EB acquisita, is a rare autoimmune disorder, which means the body's immune system attacks its own skin.
Symptoms
Everyone with EB has fragile skin that blisters and tears easily. Symptoms usually begin at birth or during infancy and range from mild to severe. Other symptoms depend on the type:
- EB simplex is the most common form. A mild form causes blisters on the palms of the hands and soles of the feet. Skin there may thicken, and nails may be rough, thickened, or missing.
- Junctional EB is usually severe. Open sores can get infected or cause severe dehydration from fluid loss. Poor nutrition, anemia (low red blood cells), and slow growth can follow.
- Dystrophic EB causes scarring and nail loss. Milia, which are small white bumps on the skin, can also appear.
- Kindler syndrome can cause thin, wrinkled skin and sensitivity to sun damage.
Severe forms can cause scarring that fuses fingers or toes together. Scarring can also tighten muscles and tendons, which limits movement. People with severe recessive dystrophic EB have a high risk of skin cancer.
Causes and who gets it
Mutations, which are changes in genes passed down from parents, cause most forms of EB. The changed genes affect proteins that help the skin layers bind together. Because the layers do not bind normally, the skin tears and blisters easily.
A dominant pattern means one changed gene from one parent can cause the disease. A person with a dominant change has a 50% chance of passing it to each child. In a recessive pattern, both parents carry a changed gene. Then there is a 25% chance per pregnancy of having a child with the disease.
Anyone can get EB. It occurs in all racial and ethnic groups and affects males and females equally.
How doctors diagnose it
Doctors usually diagnose EB by:
- Asking about family and medical history, because most types are inherited.
- Examining the skin closely.
- Doing a skin biopsy, which means studying a small skin sample under special microscope tests. This shows which skin layers are affected.
- Ordering genetic testing to find the gene changes involved. People who have genetic testing should see a specialist or genetic counselor to understand the results.
A blood test may check for anemia.
Treatment
There is no cure for EB. Treatment aims to manage pain and itch, protect skin and care for wounds, treat and prevent infection, keep movement, and maintain good nutrition. A topical gene therapy, which is applied to the skin, has been approved for treating wounds in dystrophic EB.
- Skin care: use non-adhesive bandages when possible. Your health care team will show you how to change them.
- Infection: a doctor may prescribe antibiotics taken by mouth or put on the skin.
- Movement: a physical or occupational therapist can help you stay mobile.
- Nutrition: a dietitian can suggest soft foods that are easy to swallow. Avoid hot foods and drinks.
- Surgery: it may widen a narrowed esophagus, place a feeding tube, or release fused fingers or toes.
To lower friction, keep skin cool and wear loose, soft clothing.
When to see a doctor
If your infant has any blistering shortly after birth, contact your provider. If you see increased redness, increased pain in a skin lesion, red streaks from a wound, pus, or fevers, contact your doctor right away.
Call 911 or go to the emergency room if you have trouble breathing, fainting, or bleeding that will not stop.
If you have a family history of EB and plan to have children, you may want genetic counseling.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can help coordinate the many team members involved in EB care, such as dermatologists, dietitians, and therapists, and can provide follow-up visits.
Common questions
Is epidermolysis bullosa curable?
No, there is no cure for epidermolysis bullosa. Doctors treat symptoms, such as pain, wounds, and infection. Scientists continue to research possible treatments and cures.
Can epidermolysis bullosa be passed to children?
Yes, most people who have EB inherit a changed gene from their parents. Genetic counseling is recommended for prospective parents who have a family history of any form of EB.
Does epidermolysis bullosa get better with age?
It depends on the form. Mild forms of EB improve with age, but the outlook depends on how severe the illness is.
What are the types of epidermolysis bullosa?
There are four major types: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome. A fifth type, EB acquisita, is an autoimmune disorder that can begin at any age.
Sources
- MedlinePlus - Epidermolysis bullosa
- National Institute of Arthritis and Musculoskeletal and Skin Diseases - Epidermolysis Bullosa Symptoms, Types and Causes
- National Institute of Arthritis and Musculoskeletal and Skin Diseases - Epidermolysis Bullosa: Diagnosis, Treatment, and Steps to Take
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
