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.

Causes of 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.

Types of Epidermolysis Bullosa

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.

Symptoms of Epidermolysis Bullosa

  • 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).

Diagnosis of Epidermolysis Bullosa

  • 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.

Treatment of Epidermolysis Bullosa

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 temperature.

  • Seeing a dietitian to monitor your special nutrition needs.

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