EB is a debilitating and devastating genetic disorder that affects a child from birth. EB is extremely rare - a child has 1 in 50,000 chance of being born with EB - and EB is not specific to any ethnicity or gender.
EB is technically defined as a group of diseases characterized by blister formation after minor trauma to the skin. Practically speaking, a child who suffers from EB lacks a critical protein that binds his or her layers of skin together. This protein acts as the “velcro” that attaches one layer of his or her skin to the other. Without this “velcro,” when this child moves, his or her skin slides apart, blisters and shears off leading to severe pain, disfigurement, and in too many cases, a premature death. A child with a severe form of EB can have a 60% cumulative risk of dying by age 15 and nearly a 100% chance of developing an aggressive, painful and fatal form of skin cancer over the course of his or her shortened life.
There are three major EB subtypes – Simplex, Junctional and Dystrophic and within each type there are multiple subsets. The difference among them is the level at which a blister forms within the skin and which particular protein is missing or impaired.