What is epidermolysis bullosa?
Epidermolysis bullosa is a group of rare diseases that cause fragile skin that leads to blisters and tearing. Tears, sores, and blisters in the skin happen when something rubs or bumps the skin. They can appear anywhere on the body. In severe cases, blisters and sores may also develop inside the body.
The symptoms of the disease usually begin at birth or during infancy and range from mild to severe.
Who gets epidermolysis bullosa?
Anyone can get epidermolysis bullosa. It occurs in all racial and ethnic groups and affects males and females equally.
What are the types of epidermolysis bullosa?
There are four major types of epidermolysis bullosa. Doctors determine the type of epidermolysis bullosa based on:
- The place on your body where the skin changes.
- The gene mutation that may have caused the disease.
The symptoms of epidermolysis bullosa vary depending on the type you have. Everyone with the disease has fragile skin that blisters and tears easily. The skin changes and blisters can cause pain and itching. Other symptoms can include:
- Thick skin on the palms of the hands and soles of the feet.
- Rough, thick, or missing fingernails or toenails.
- Blisters inside the mouth.
- Changes in the color of the skin.
- Scarring, which can cause tightening of your skin, muscles, or other tissue in your body.
People who have blisters inside their bodies may have problems with nutrition.
What causes epidermolysis bullosa?
Mutations (changes) to genes that you inherit from your parents cause most forms of epidermolysis bullosa. Genes carry information that determines which features are passed to you from your parents. We have two copies of most of our genes—one from each parent. People with the disease have one or more genes that carry the incorrect instructions to make certain proteins in the skin. You may get this changed gene from one or both parents.