Epidermolysis bullosa (EB) is a family of inherited genetic, blistering skin disorders that occur in about 25,000 Americans. It affects both genders, all races and ethnicities and, based on its severity, some patients with severe cases die before the age of 30.

How it surfaces

Mild or severe, EB is characterized by skin layers that easily tear and pull apart, causing painful blisters resulting from any type of friction. Children with a severe form of the disease may have normal skin at birth and within minutes develop blisters that grow to several inches in diameter.

The blisters rupture, forming open, agonizing wounds which may heal slowly or not at all and are susceptible to infection. Patients born with EB are known as “butterfly children” because their skin is as fragile as a butterfly’s wings.

Causing complications

EB patients live in chronic pain and can become malnourished. The disease can affect internal organs, as well as the mouth and esophageal mucosa where blisters and sores form from chewing and swallowing food.  

“Patients born with EB are known as 'butterfly children' because their skin is as fragile as a butterfly’s wings.”

There are at least 15 different proteins that work as glue to hold together layers of skin. When there is a defect in one of these proteins, the skin is weakened and any friction — like rubbing or itching — along the skin’s surface causes it to tear or pull apart; subsequently, these separations fill with fluid to form blisters.

For example, the most common, severe type of EB is recessive dystrophic epidermolysis bullosa, or RDEB, which is caused by the mutation or absence of the protein, type VII collagen. Without it, skin layers do not connect and debilitating blisters form. RDEB patients who survive childhood suffer from chronic open wounds that lead to deadly skin cancers. Daily palliative wound care is the only treatment available for these patients. No therapies exist for changing the course or severity of the disease.  

Nevertheless, there is hope for all EB patients. Research is underway among biotechnology companies, nonprofits and academic medical centers to develop treatments with potential to heal blisters, prevent future wounds from forming and relieve pain.