Do I Have Epidermolysis Bullosa?

Do you have a family history of epidermolysis bullosa?

Do you have fragile skin that blisters easily (especially on the hands and feet)?

Do you have blisters inside the mouth and throat?

Do you have nails that are thick or don't form?

Do you have thickened skin on the palms and soles of the feet?

Do you have scalp blistering, scarring and hair loss (scarring alopecia)?

Do you have thin-appearing skin (atrophic scarring)?

Do you have tiny white skin bumps or pimples (milia)?

Do you have dental problems, such as tooth decay from poorly formed enamel?

Do you have difficulty swallowing?

Do you have itchy, painful skin?

Based on your answers it is unlikely that you have epidermolysis bullosa (EB). Epidermolysis bullosa represent a group of inherited conditions characterized by abnormally fragile skin. EB is a rare skin disorder in which even a minor trauma to the skin can cause painful blisters. The cause of EB is a gene mutation that makes the skin extremely fragile. A person can inherit a mutated gene from one of the parents who also have EB, or it can happen that both parents are carriers of the mutated gene which they then pass on to their child without having the disease themselves.

Based on your answers there is a possibility that you have epidermolysis bullosa (EB). Epidermolysis bullosa is a rare inherited disease characterized by fragile, blistering skin. The most common type of EB is epidermolysis bullosa simplex which is the mildest form of the disease with a low risk of complications. There are two more types of EB: dystrophic epidermolysis bullosa which is more serious type with mild to severe symptoms, and junctional epidermolysis bullosa which is the rarest and extremely severe type of the disease with widespread blistering of the skin and mucous membranes. A diagnosis is based on a physical examination, skin biopsy and genetic testing.

Based on your answers there is a high possibility that you have epidermolysis bullosa (EB). Epidermolysis bullosa is a group of rare skin disorders represented by fragile skin that blisters easily. EB is an inherited disease that is usually noticeable at birth. A diaper change and even a hug can damage a baby's skin and cause blisters. Some people develop blisters on the mucous membranes of the mouth, throat and intestines that are usually the result of friction caused by swallowing food. EB cannot be cured. The goal of treatment is managing existing blisters and preventing new ones. Treatment involves medications, surgery and rehabilitation therapy.