Epidermolysis Bullosa, or EB, is a connective tissue disorder that approximately 200 babies are born with each year. The most serious symptom is the extreme fragility of skin. People with EB suffer blisters and skin tears from very minor injuries, and the worst part?
There’s no treatment, and there is no cure for this rare debilitating genetic disorder.
It can affect the body’s internal organs; in the severest cases, EB sufferers pass away by 30 years of age. EB can affect both males and females in equal numbers and doesn’t discriminate against racial or ethnic groups.
In the past, there were no treatments available for patients with EB.
However, in 2008, a boy with EB received a stem cell transplant, and it was successful. His brother—who also has the disorder—as you’d expect, elected to have his own stem cell transplant, which, too, was successful.
The problem with using this form of treatment is that, prior to the transplant, the patient’s immune system has to be wiped clean, which can leave patients wide open to opportunistic infections. At least one patient has died as a result.
So, while stem cell transplants can be promising, the treatment is not without risk.
Research is currently seeking answers for the exact reasons—genetic or not—behind a person having this inherited disorder. Something else under evaluation is improved wound care. People who have EB in their family are encouraged to get genetic counseling to determine the risk of passing the gene on to their offspring.
