We all know the pain that comes with wearing shoes too tight. It starts off with just a little pinch, then a rub, maybe a blister forms, and finally a delicate sore forms that hurts out of proportion to its size. Imagine if even the simplest touch could cause your skin to blister. If walking, even barefoot, could cause painful sores on your feet, and writing or typing could cause blisters to form on your fingers. That is what life is like with a rare genetic condition called Epidermolysis Bullosa, or EB.
EB is a rare genetic skin disorder that causes skin to blister or tear under circumstances that normal skin would not. The skin of children with EB is extremely fragile, blistering and rubbing off in sheets with even mild friction. These children are often known as Butterfly Children, as their delicate skin is compared to the fragile wings on a butterfly. Children with EB can show symptoms as early as the first hours of life, or the symptoms can present later in infancy or childhood. Earlier symptoms often indicate more severe disease, and in the worst cases, the disease affects internal organs in addition to the skin. Babies who are most severely affected often do not survive into adulthood.
According to debra of America, the Dystrophic Epidermolysis Bullosa Research Association of America, approximately 1 in 20,000 newborns is affected with EB each year. The disease is a result of a faulty gene that causes a defect in a specific protein needed for skin to function properly. There are 18 different genes known to cause EB. There are four types of EB known as simplex, dystrophic, junctional, and kindler, which are distinguished by the areas of skin affected as well as the genetic mutations that cause the disease. Families are often unaware that they are carriers of the gene responsible for EB until they have their first child with EB. All races and both males and females are affected equally.
Parents of children with EB work hard to keep their children pain-free and infection-free. Depending on the severity of their child’s disease, they will modify the environments, including carefully selecting clothing, shoes, linens, and toys to minimize the risk of even the mildest traumas. Wound care of children with EB is critically important. Special wound coverings are required to protect the delicate skin as it heals and to avoid additional trauma from the removal of bandages. Protection against skin infections is also very important. At present, there is no known cure for people with Epidermolysis Bullosa.
Reviewed by Dr. Sara Connolly, March 2019