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Q: What is epidermolysis bullosa (EB)?

EB is the name of a group of genetic disorders causing blistering and shearing of the skin from even the gentlest friction, often from simple day to day activities.

Q: What does the name mean?

The skin is made up of a number of different layers. The outer layer is called the epidermis and the inner layer the dermis. 'Bullosa' is simply the name for a blister and 'lysis' means breakdown. Here Epidermolysis Bullosa means the breakdown and blistering of the outer skin.

Q: What causes the condition?

All forms of EB are genetic in origin and the genes responsible for the three key forms and some 20 subsets have been identified. The condition is inherited, it cannot be caught.

Q: What are the symptoms of EB?

EB can be grouped into three main types; EB simplex, dystrophic EB (dominant or recessive form) and junctional EB. The symptoms in all these forms are blistering of the skin which may be, dependant upon type, restricted to specific areas of the body such as hands and feet. In the milder forms of EB the blisters heal without leaving permanent damage to the skin, in other forms scarring occurs that can lead to permanent disfigurement and disability. Some forms of junctional EB are life-threatening in infancy.

Q: Does EB only affect the skin?

No. Although the effects of EB on the skin are the most visible symptoms, other parts of the body can be affected, for instance in RDEB (recessive dystrophic EB) the internal mucous body linings - inside of mouth, throat, eyes and anus - may blister, causing discomfort and difficulty in swallowing and eating.

Q: Is EB infectious or contagious?

No, you cannot 'catch' EB from a person with the condition and there are no risks from normal activities such as swimming or bodily contact.

Q: How common is EB?

One in 227 of us has a defective gene that causes EB. One in about 17,000 live births will be an infant with a form of EB, with the condition affecting both sexes and all racial groups. There are approximately 30,000 people in Europe living with EB, and about 500,000 worldwide.

Q: Is EB hereditary?

Yes, genetic conditions such as EB are passed on from parents to children and this can occur in a number of ways, for instance, just one parent may pass on a defective copy of the gene or, in some cases, both parents. There are also cases where a defective gene arises for the first time in a child and has not been passed on by the parents. It should also be noted that parents who have EB do not also always pass it on to their children.

Q: Can at-risk pregnancies be tested for EB?

For some forms of severe EB, it is possible for those known to be at risk to receive prenatal diagnostic testing, to ascertain if EB has been passed on.

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