FAQs

Q: What is Epidermolysis Bullosa (EB)?

A: EB is the name for a group of incurable genetic skin conditions that cause the skin to blister and tear at the slightest touch.

Q: What does the name mean?

A: The skin is made up of several different layers. The outer is called the epidermis; the inner layers are the dermis. 'Bullosa' is simply the name for a blister and 'lysis' means breakdown. Thus Epidermolysis Bullosa means the breakdown and blistering of the outer skin.

Q: What causes the condition?

A: All forms of EB are genetic in origin. The key genes responsible for the three main forms and 30 plus subtypes have been identified.

Q: What are the symptoms of EB?

A: There are three main types of EB; EB Simplex, Dystrophic EB (dominant or recessive form) and Junctional EB (fatal or non-fatal). The symptoms in all these forms are blistering of the skin which may be, dependent upon the type, restricted to specific areas of the body such as the hands and feet. In the more severe forms of EB, continuous, painful skin blisters lead to significant scarring causing permanent disfigurement and disability. Some forms of Junctional EB are life-threatening in infancy.

Q: Does EB only affect the skin?

A: No. Although the effects of EB on the skin are the most visible symptoms, other parts of the body can be affected. In Recessive Dystrophic EB for example, the internal mucous body linings (inside of the mouth, throat, eyes, and anus) may blister, causing discomfort and difficulty in swallowing and eating.

Q: Is EB infectious or contagious?

A: 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. The condition is inherited.

Q: How common is EB?

A: One in 227 of us carry a defective gene that causes EB. One in 17,000 live births will be an infant with a form of EB. There are around 5,000 people in the UK living with EB.

Q: Is EB hereditary?

A: Yes, genetic conditions such as EB are passed on from parents to children – just one parent may pass on a defective copy of the gene or, in some cases, both parents. As we all have two copies of each gene with each parent passing one copy each to their child, there are instances where the condition is not passed on.

Q: Can people at risk be tested for EB?

A: Yes, it is possible for those known to be at risk of passing on EB to receive pre-natal diagnostic testing at 8-10 weeks.