St. Louis, Oct. 23, 2007 -- Matt Schneider is your typical college student –studying and always on the go. However, Matt has a rare skin disorder called epidermolysis bullosa that causes his skin to blister severely when touched. Because his toes fused together from the painful disorder, he uses a wheelchair, but that doesn’t slow him down.
Oct. 25- 31 is the first National Epidermolysis Bullosa Awareness Week designed to raise awareness of the life-threatening genetic disorder characterized by the lack or breakdown of proteins affecting the skin and mucous membranes. Patients with epidermolysis bullosa, or EB, have recurring blisters and open wounds comparable to second- and third-degree burns that develop in response to minor injury.
While it often appears at birth, another form may not appear until adulthood. The disease, which ranges from mild to life-threatening, can also cause nail or hair loss, scarring after blister formation, fusion of fingers and toes, or feeding and swallowing difficulties caused by blistering and scarring of the mouth and throat. Wounds may cover up to 75 percent of the child's body. Patients with the disorder must take measures to avoid skin trauma, high temperatures and infection of blistered areas.
One in about 50,000 live births are affected with a type of EB, and one in 227 people carries a gene for EB, although many of these aren't affected, according to the non-profit Dystrophic Epidermolysis Bullosa Research Association (DebRA) of America Inc., an organization providing resources about EB. Although mild forms of the disorder may not impact life expectancy, infants born with the lethal form of EB have a death rate as high as 87 percent in the first year of life.
Since there is no cure for EB, treatment is focused on protecting the skin against trauma, preventing infection, focusing on nutrition, minimizing scarring and deformities and providing support for the family. In severe cases, patients receive care similar to that received by burn patients and may have to be fed through a tube.
Susan Bayliss, M.D., a Washington University professor of pediatrics and of medicine in dermatology at St. Louis Children’s Hospital, is participating in a Phase 2 clinical trial for a drug to treat EB. Throughout her career, she has treated nearly 50 pediatric and adult patients with EB, including Schneider.
“This disorder can totally change a family dynamic,” says Bayliss. “Children with a severe form of EB are normal, except they can be limited in physical activities because their skin can't handle trauma. We hope that National Epidermolysis Bullosa Awareness Week will bring more attention to the disorder to help accelerate new treatments for this devastating illness.”
For more information about the "Walk a Mile in My Shoes" Relay-Rally, visit www.ebrelay.org.
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