Type of disease: Rare conditions
Epidermolysis bullosa (EB) is a group of rare genetic conditions. All types of EB cause fragile skin that blisters and tears from friction or trauma. Other parts of the body may be affected. Children with EB may be called “butterfly children” since their skin is extremely delicate. The severity of the EB can range mild to very severe.
Symptoms of this condition may include blisters on the skin as a result of minor injuries; blisters in the mouth or throat, causing difficulty breathing or eating; toenail and fingernail loss; white bumps on the skin; and a thin appearance to the skin. Other symptoms of EB may include anemia, cardiomyopathy, syndactyly (fusion of the fingers and toes), kidney problems, malnourishment, cancer, constipation, osteoporosis, muscular dystrophy and pyloric atresia. EB is diagnosed by a skin biopsy and genetic testing.
There are four types of EB: Simplex, Dystrophic, Junctional, and Kindler. The development of EB is associated with changes (mutations) in many different genes. Some forms of EB are inherited in a dominant manner (where only one copy of a mutated gene is necessary); other forms in a recessive manner (two mutated copies are necessary to develop the condition). There is an autoimmune type of EB as well. Contact a genetic counselor or specialist to understand the genetics of your child’s EB type and for more information about the condition.
Sadly, there is no cure for EB at this time. Treatment options focus on decreasing discomfort and decreasing the risk of developing infections and may include daily wound care, the use of antibiotics to prevent infections, and the use of medications to decrease pain and itchiness. Surgery may sometimes be advised.
If you have a family history of EB, or your child has been diagnosed, contact your doctor or a specialist to discuss the most current treatment options. Support groups are also a great resource for information and support.