Epidermolysis Bullosa (EB)
Epidermolysis Bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah)
A connective tissue disorder characterized by the formation of blisters resulting from trivial trauma. These blisters may materialize externally (on the skin) or internally, being found in the mouth, esophagus, stomach, intestines, and/or bladder. EB is believed to affect approximately 1 in every 20,000 births in the United States, and the severity of symptoms can range from mild to life-threatening. While no cure has been found, mild forms can improve with with age.
EB is genetic and is characterized into three types. Depending on the type it can be either autosomal dominant (requiring only one parent with the gene) or autosomal recessive (requiring both parents to have the gene) and genetically involves defects in the collagen, lanolin and keratin.