Epidermolysis Bullosa (EB) Center

First in the world to provide a systemic therapy for EB, we continue to work diligently to find new ways to improve the quality of life for our patients. We collaborate with researchers and research organizations around the world, keeping our program at the forefront of EB care globally.

Children brought to our center with a confirmed diagnosis of EB will receive a thorough examination to evaluate the severity of their EB. This may include skin biopsies, blister testing, medical photography, and blood tests. Patients will be also seen by specialists from a variety of different services depending on their needs. Common examples include seeing gastroenterologist for esophageal strictures or an ophthalmologist for corneal injury.

We primarily treat the most severe forms of recessive dystrophic epidermolysis bullosa and some kinds of junctional epidermolysis bullosa. To evaluate if the therapies we offer are appropriate for your situation, we will need a genetic diagnosis of the disorder. If you are coming to our center without a confirmed diagnosis, we will help you navigate the necessary testing and ensure you have all of the resources needed to care for your child.

Sometimes it is better to have the testing done prior to the visit. Connect now with an EB testing facility.

Bone marrow transplant is a complex medical procedure and is not appropriate for every patient. It is a multi-step process that replaces the blood-making cells in a patient’s body with cells from a donor who does not have the genetic predisposition for epidermolysis bullosa. As the donor cells take up residence in the patient’s bone marrow, they produce cells that are capable of making the missing protein that helps hold the layers of the skin together.

To prepare for a bone marrow transplant, a donor must be identified (related, unrelated matched, or cord blood). Then chemotherapy and low-dose total body irradiation are used to make room for the donor cells in the patient’s bone marrow. This effectively wipes out the patient’s immune system. The transplant itself consists of cells being infused through an IV, much like a blood transfusion. Afterwards, the patient is hospitalized for around 4-6 weeks while the donor cells engraft in the bone marrow and begin producing healthy cells. Once the patient’s cell production has normalized, they are released, but due to their lowered immunity, they need to remain fairly isolated and with 30 minutes of the hospital. Through this recovery period, patients are closely monitored with frequent clinic appointments until 100 days after transplant or their immune system recovers.

The severe forms of epidermolysis bullosa (EB) are diseases like no other. Because of a genetic typo, patients with EB don't produce an important protein that holds the layers of the skin together. This results in a lifetime of blisters, long-lasting wounds, difficulty eating, and eventually loss of mobility and a shortened life. A request by the parent of a patient started us on the quest for the cure over ten years ago.

The University of Minnesota discovered in 2007 that using bone marrow transplant in mice could ease the devastation of the disorder. Beginning in 2008, patients began receiving this therapy, which is still the only whole-body treatment available. Our experiences with these patients and their families has led us join the worldwide efforts to find better treatments and hopefully a cure for EB. Over the past ten years, we have seen nearly 80 patients with this rare disorder. This gives us the opportunity to study the broad spectrum of how the disease behaves in different people.

Some of our research is looking for a cure by removing the genetic typo using a form of gene therapy. Other research focuses on quality of life issues, like the cause (and treatment) of the unbearable itching EB patients also suffer from. Currently, a significant part of our research aims to better understand the way the disease operates at the molecular and cellular level, to identify the parts of bone marrow transplant therapy the disease responds to, and to learn more about EB patients' susceptibility to squamous cell carcinoma. 

Support Our EB Research