Epidermolysis Bullosa (EB) is a group of genetic skin conditions which cause the skin to blister and tear at the slightest touch.
Those born with EB have skin so fragile they are called 'butterfly children' – their skin is quite simply as fragile as the wing of a butterfly.
Painful open wounds and sores form where this exceptionally fragile skin is damaged – in some cases, internal linings and organs are also affected. Complications as a result of secondary infection and extensive scarring are factors that people living with EB often have to face.
Tragically, certain types of EB can be fatal in infancy and others are severely life-limiting. We estimate that there are more than 5,000 people living with EB in the UK, and 500,000 worldwide.
EB may be inherited in either a dominant or recessive form. In dominant EB, one parent usually carries the gene and is affected by the condition themselves, while the birth of a child suffering from the recessive form is usually totally unexpected since both parents can carry the EB gene without displaying the condition themselves. In dominant EB, there is a 50% chance of passing the disorder to children: in recessive EB the chance is 25%.
EB can also arise through a new spontaneous mutation – neither parent carries EB but the gene mutates spontaneously in either the sperm or the egg before conception.
Rarely, a severe form of EB can be “acquired” as the result of autoimmune disease, where the body develops antibodies to attack its own tissue proteins.
There is currently no known cure for EB. At DEBRA, our work is focused on funding research to change this, while also supporting people living with EB to enhance their quality of life through improved healthcare, access to information and respite care.