Epidermolysis Bullosa

What is epidermolysis bullosa?

Epidermolysis bullosa (EB) is a group of genetic (inherited) disorders that causes your skin to be fragile and blister and tear easily. Blisters and sores form when clothing rubs against your skin, or you bump your skin. Mild cases of the disease usually cause painful blisters on the hands, elbows, knees and feet. However, tears and blisters can appear anywhere on the body. EB symptoms can range from very mild to very severe.

In some cases, blisters form inside the body in places such as the mouth, esophagus, other internal organs or eyes. When the blisters heal, they can cause painful scarring. In severe cases, blisters and scars can harm internal organs and tissue enough to be fatal.

How many types of epidermolysis bullosa are there?

EB has four primary subtypes:

• EB simplex (EBS). EBS is the most common form of EB, and it can range from mild (not very painful) to severe (very painful). Blisters develop in the top layer of your skin (epidermis). The blisters rarely scar after they’ve healed.
• Junctional EB (JEB). JEB causes blisters to form in your mouth and airway. It’s rare, and it can range from moderate (uncomfortable, mild pain) to severe.
• Dystrophic EB (DEB). DEB causes blisters to grow in the middle layer of your skin (dermis). It can range from mild to severe.
• Kindler syndrome. In Kindler syndrome, blisters can form in all layers of your skin. It’s very rare.

Healthcare providers diagnose EBS, JEB and DEB according to your affected layers of skin. Kindler syndrome may appear as blisters throughout different layers of your skin.

Who does epidermolysis bullosa affect?

EB affects everyone. People of all sexes, races and ethnic backgrounds can have EB. However, you’re more likely to have EB if you have a parent with the disorder.

How common is epidermolysis bullosa?

An estimated 1 in 50,000 people in the United States have EB.

How does epidermolysis bullosa affect my body?

Severe cases of EB may cause blisters in your eyes, which can result in vision loss. It may result in severe scarring and deformities of your skin/muscles, making it difficult to move your fingers, hands, feet and joints. Some people with EB are at an increased risk of developing a type of skin cancer called squamous cell carcinoma. Death can sometimes occur during infancy due to severe infection (sepsis), breathing problems due to blocked airways, dehydration and malnutrition.

Is epidermolysis bullosa fatal?

It depends on what type of EB you have. Mild cases of EB aren’t fatal. People with severe cases of EB have a life expectancy that ranges from infancy to 30 years of age.

What are the symptoms of epidermolysis bullosa?

The signs and symptoms of EB depend on the type, and they usually appear when you’re a baby or toddler. Some symptoms overlap between the types. Symptoms of EB include:

• Blisters on your skin (hands, feet, elbows and knees) or inside your body.
• Thickened calluses on the palms of your hands and soles of your feet.
• Anemia (low levels of red blood cells).
• Fused (attached) fingers or toes.
• Deformed and/or thickened fingernails and toenails.
• Small white bumps on the skin (milia).
• Difficulty swallowing (dysphagia).
• Lack of expected growth in an infant.
• Teeth that don’t develop into an expected size (hypoplasia).

What causes epidermolysis bullosa?

A mutation (defect) in one of 18 genes causes EB. People with the disorder have a missing or damaged gene that affects a protein used to make collagen. Collagen gives connective tissues, like skin, their strength and structure. Because of this defect, the epidermis and dermis layers of your skin don’t bind together as they normally would. This results in skin that’s fragile and blisters and tears easily.

EB is usually an inherited disorder, which means that one parent may have it and pass it down to their children.

In rare cases, EB may also be an acquired autoimmune disorder.

Is epidermolysis bullosa contagious?

EB isn’t contagious. It’s usually an inherited disorder.

How is epidermolysis bullosa diagnosed?

Doctors diagnose EB with a test called a skin biopsy. In this test, a doctor removes a small skin sample and studies it under a microscope.

A genetic test can confirm the type of EB by identifying the defective gene. A prenatal genetic test can confirm if parents are at risk for having a baby with EB.

How is epidermolysis bullosa treated?

There is no cure for EB. Treatment helps:

• Prevent blisters from forming.
• Care for blisters and skin so that complications don’t occur.
• Treat nutritional problems that may occur due to blisters in the mouth or esophagus.
• Manage pain.

To avoid damage and friction that may cause the skin to blister or tear, doctors recommend:

• Wearing soft, loose-fitting clothing made out of natural fibers. Turn clothing inside-out to avoid contact with seams.
• Avoiding getting too hot; keep rooms at a comfortable and even temperature.
• Staying out of the sun or wearing sunscreen.
• Applying special bandages to protect the skin — use nonadhesive (doesn’t stick to skin) bandages and tape and rolled gauze.

To treat blisters, your doctor may recommend:

• Treating wounds daily with ointments.
• Using medicated bandages to help blisters heal and prevent infection.
• Taking medications to manage pain.

To treat infections, your doctor may recommend:

• Taking antibiotics by mouth or applying antibiotic cream.
• Using a special wound covering for sores that don’t heal.

To prevent nutrition problems due to difficulty eating because of blisters in the mouth or esophagus, your doctor may recommend:

• Using a baby bottle with a special nipple.
• Feeding your baby with an eyedropper or syringe.
• Adding liquids to mashed foods to thin them down, making them easier to eat.
• Eating a diet of soft foods, such as soups, mashed foods, pudding and applesauce.
• Serving foods at a warm (not hot) temperature.
• Seeing a dietitian to monitor your special nutrition needs.

For severe cases of EB, you may need surgery. Surgery will widen the esophagus (the tube leading from the mouth to the stomach) if blisters and scarring have caused it to narrow. Inserting a feeding tube directly into the stomach, bypassing the esophagus entirely, is another option for some people. Surgery also separates fingers or toes that have fused from the blisters.

How do I take care of myself?

The following tips will help you take care of yourself:

• Sleep on sheets and bedding made of soft, natural fibers, such as silk or satin.
• Wear loose, comfortable shoes.
• Avoid standing or walking on your feet for long periods.
• Avoid scratching or rubbing your skin.
• Apply anti-itch medications to reduce itching.
• Be aware of your surroundings to avoid accidentally hitting or scratching your skin.
• Moisturize your skin frequently to reduce friction.
• Pop blisters with a sterile needle or clean scissors.
• Use nonadhesive (not sticky) bandages, or apply petroleum jelly (Vaseline™) or skincare ointments (Aquaphor™) to your bandages to prevent them from sticking.

How do I take care of my child if they have epidermolysis bullosa?

Your child’s needs are unique, and they may not yet have the ability or vocabulary to express what’s bothering them. The following tips will help make your child as comfortable as possible:

• Thoroughly wash your hands before handling your child’s skin.
• Avoid wearing latex gloves. They may create friction.
• Gently bathe your baby’s skin in sections rather than putting their whole body in a shallow tub.
• Consider laying your newborn baby on absorbent pads instead of putting them in diapers.
• Use diapers with Velcro® straps. Adhesive straps (tape) can accidentally stick to your child’s skin.
• Cut the elastic off of the diaper leg holes.
• Place silicone gel sheets in the diaper lining to prevent skin from sticking to open blisters.
• Be careful how you pick your child up. Avoid putting your hands under their armpits (axilla). If their thighs and back are free from blisters or sores, wrap one arm around their thighs and use your other arm to support their back.
• Encourage them to be as active as their EB allows them to be. Inactivity may cause other complications, including constipation and muscle loss (atrophy). Swimming is a great form of exercise that has minimal impact.
• Discourage rough, physical activities or play, especially any that cause your child’s body to heat up and sweat.

It may be difficult treating your child’s symptoms, and you may feel overwhelmed or stressed. Ask your healthcare provider about any other tips or suggestions on how to keep your child — and you — as comfortable as possible.

Parent support groups also allow you to share your experiences and learn new ways to manage your child’s EB.

How can I prevent epidermolysis bullosa?

Because it’s genetic, you can’t prevent EB. People with a family history of EB who are thinking about becoming parents may benefit from genetic counseling to decide how to grow their families.

In addition, experts don’t currently know what causes EB acquisita. Therefore, healthcare providers don’t know how to prevent it.

What can I expect if I have epidermolysis bullosa?

The outlook for people with EB depends on the type and severity. Severe forms of the disease can result in severe pain, disfigurement, disability, wounds that never heal and early death.

Healthcare providers can help you manage symptoms with proper treatment and, if needed, medicines for pain management. Preventive measures — extensive every-other-day wrapping of the skin with nonadhesive, protective dressings — and regular bathing and wound care can help manage EB’s impact.

When should I see my healthcare provider?

Contact your healthcare provider if:

• You have difficulty breathing.
• You have difficulty swallowing.
• Your wounds look infected (red, purple, gray or white skin; irritation or swelling).
• You develop new symptoms.

What questions should I ask my healthcare provider?

• How can you tell that I have EB?
• If I don’t have EB, what other skin condition might I have?
• How can I control my symptoms?
• What medications do you recommend?
• Do the medications have any side effects?
• What at-home treatments do you recommend?
• What else should I do to improve my symptoms?
• Is there a cream or ointment that you can prescribe?
• Should I see a dermatologist or another specialist?

What’s the difference between bullous pemphigoid and epidermolysis bullosa?

Bullous pemphigoid is a rare autoimmune skin disorder that may cause itchy, hive-like welts or fluid-filled blisters. Bullous pemphigoid occurs most often in people over the age of 60, and it usually goes away within five years. In severe cases, blisters and scars can harm internal organs and tissue enough to be fatal.

EB may be an autoimmune disorder, but a gene mutation that affects the collagen in your skin is typically the cause. EB usually occurs in infancy or early childhood. There is no cure for EB, so you may experience symptoms throughout your life.

A note from Cleveland Clinic

Epidermolysis bullosa causes blisters, tears and sores on your skin, which may be mild or severe. The life expectancy for people with severe EB is poor. However, most people with EB continue to live well for decades after diagnosis, though they may have to take more precautions to protect their skin.

EB is usually an inherited disorder. If you have a family history of EB, it’s a good idea to see your healthcare provider to discuss genetic counseling to help you make family-planning decisions.