Pediatric Blood & Marrow Transplantation Center
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Epidermolysis Bullosa

We are an international leader in the treatment of Epidermolysis bullosa (EB), an often life-threatening skin disease found primarily in children. Our program is the first and only place in the world that offers a blood and marrow transplant (BMT) as a treatment for the most severe types of EB (recessive dystrophic and junctional EB).

While past treatments have focused on topical therapy, similar to that given to burn patients, our doctors were the first to explore BMT as an option for patients with severe EB. The first child to receive BMT for EB took place at University of Minnesota Masonic Children's Hospital in 2007 and since then, we have provided transplant as a therapy option to approximately five patients each year.

General Overview

Epidermolysis bullosa is a group of skin conditions representing deficiency in one of several proteins that anchor skin to the body. 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.

There are four main types of EB. The mildest and most common form is Epidermolysis bullosa simplex, 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.

Many children with EB die at a young age due to infection, nutrition deficiencies or other causes. Historically, treatment has addressed the symptoms, including prevention of pain, wounds, infection and itching.

Incidence

Approximately 1 in 50,000 children get Epidermolysis bullosa every year.

At Diagnosis

Children who are brought to us with a diagnosis of EB will first receive a thorough examination to understand the severity of the case. Our physicians also will assess the child’s organ systems and skin condition, looking for specific protein abnormalities to help determine the type and severity of the disease. This may involve skin biopsies, blood tests and CT scans. Our team also will provide information on genetic testing and will help parents learn about proper wound care, nutrition and other aspects of day-to-day care for children with EB.

EB is not yet curable, but our groundbreaking stem cell research and BMT is offering children new hope for tissue repair. Treatment might involve skin care therapy, surgery to correct any deformities caused by the disorder, nutritional support, physical therapy or a BMT.

Blood and Marrow Transplantation

Patients who are candidates for BMT will begin preparations for transplant. Currently, we are only offering transplant as an option for patients with the two most severe types of EB, Recessive Dystrophic EB and Junctional EB.

While a BMT carries an inherent risk, most of our EB transplant patients have shown that stem cells from a healthy donor find their way to the skin, secrete the missing protein and bolster the development of collagen. For the patient, this can mean a substantial reduction in blistering and enhanced healing of the skin.

Physicians and researchers at the University of Minnesota are continuously exploring newer and safer ways to treat EB and improve the quality of life for those who have the disease.

Learn more about what to expect during the transplant process.

We believe in the value of a multidisciplinary care team, regardless of the treatment option chosen. Our EB team includes specialists in dermatology, infectious disease, anesthesiology, pediatric surgery, gastroenterology, nephrology, nutrition and pain management. Our entire BMT team will be involved, with the following providers leading the care and treatment plans for patients with EB.

Jakub Tolar

John Wagner

We continue to explore novel ways to increase cure rates and improve quality of life for patients with EB. We also collaborate with other researchers around the world, keeping our program at the forefront of EB care globally. Click here to see a list of EB articles and studies our team has published in academic and science journals.

Learn more about current research projects for all transplant patients here.

EB transplant patients may be eligible for clinical trials, taking advantage of the latest breakthroughs in therapies and treatments. View a list of open trials.

Journey Clinic - Pediatric Blood and Marrow Transplantation Center

2450 Riverside Avenue
Minneapolis, MN 55454
612-365-1000
612-365-1000 TTY: 612-672-7300

For information about the Adult Blood and Marrow Transplantation program, click here:

We're Here To Help

We have been providing innovative care to children in need of a blood and bone marrow transplant for over 40 years. Call us, we're here to help.

(888) 601-0787 or (612) 273-2800

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