EB Facts

EB Fast Facts

Being told your child has an Epidermolysis bullosa (EB) diagnosis can bring uncertainty, confusion and fear. Therefore, the Foundation has provided key details to help bring a better understanding of the disease. These important facts have been summarized below using information obtained through the University of Minnesota.

What is EB?

This rare genetic disease, also known as, "the worst disease you've never heard of," causes the skin to blister and tear from minor friction or trauma. The disease is generally caused by a genetic mutation that does not allow the body to produce essential proteins that anchor skin to the body. Children born with the disease are often referred to as “butterfly children” due to the fragile nature of their skin. This most often inherited disorder can cause the skin to tear and pull away from the body in response to friction, resulting in fluid-filled blisters. EB can also affect the lining of the mouth, esophagus, stomach and intestines. Daily wound care, pain management, and protective bandaging are the only options available for people with EB as there is currently no cure.

Types of EB

•   Epidermolysis bullosa simplex: the mildest and most common form is which involves the production of keratin, a protein in the top layer of skin. 
• Junctional Epidermolysis bullosa: is more severe and is usually apparent at birth. 
• Dystrophic Epidermolysis bullosa: involves the production of collagen and can be either mild or severe.
• Epidermolysis bullosa acquisita: is a rare type of the disorder that is not inherited but occurs when the immune system attacks healthy tissue by mistake.

Incidence

While the exact incident rate is unknown, approximately 1 in 50,000 children get EB every year.

Treatments/Cure

There is currently no cure for EB. Many children with EB die by the age of 30 due to infection, nutrition deficiencies or other causes. Historically, treatment methods have only been able to address the symptoms, including prevention of pain, wounds, infection and itching. However, groundbreaking stem cell research and Blood and Marrow Transplantation (BMT) procedures are now being offered by the University of Minnesota Masonic Children’s hospital. Available treatments might involve skin care therapy, surgery to correct any deformities caused by the disorder, nutritional support, physical therapy or a BMT.

Reference:

The University of Minnesota. https://bmt.umn.edu/epidermolysis-bullosa. April 4, 2018