EB (epidermolysis bullosa) is a group of incredibly painful genetic blistering condition that affects the body’s largest organ; the skin. People living with EB are missing the essential proteins that bind the skin’s layers together, so any minor friction, movement or trauma causes it to break and blister. It’s debilitating. Excruciating. Relentless. A disease with no known cure.

There are four main forms of EB that vary in severity, but all carry their own life-limiting symptoms, life-long pain and, in many cases, disability. The more severe forms of EB have a life expectancy range of early infancy to 35 years of age.

EB can affect both, the external and internal lining of the skin.

No, EB is not contagious. As it is a genetic condition it cannot be ‘caught’ by being in contact with someone who has EB.

EB is a classified as a rare disease. An estimated 1 in 18,000 babies born in Ireland are affected by EB. Over 500,000 people have EB worldwide.

On average, 300 people in Ireland have EB.

EB is passed from parent to child, as with most other physical traits. It is described as being either dominant, recessive or sporadic.

• In recessive cases both parents pass a faulty copy of a gene to the child but neither parent has the condition.
• In dominant forms a faulty copy of a gene is inherited from one of the parents, who generally also has EB.
• Sporadic (or random) cases are also common in EB, where the faulty gene is not passed from the parents but is due to a ‘new’ change in the child’s DNA.

Having faulty genes is not uncommon. In fact we all have a certain number of faulty genes but in most cases they do us no harm and we are not aware of them.

There are a number of genes associated with the skin that can cause EB if they have a fault in them. They are called such names as collagens, keratins and intergrins. In all cases, however, they are responsible for making proteins which are important for the structure of the skin.

Different genes are responsible for the various types and subtypes of EB.

Genes are responsible for making proteins which can be considered the ‘work horses’ of the body. All the genes involved in EB are responsible for making proteins which are important for the structure of the skin. The skin is made of different layers and these proteins bind the layers together. When they are reduced, absent or functioning incorrectly, the layers of the skin can separate, resulting in blistering and wounding.

Yes, there are different forms of EB that range from less severe to more severe. As mentioned, there are many different genes responsible for EB and these give rise to different forms of EB. Broadly however, there are three major subtypes: EB simplex, junctional EB and dystrophic EB.

No, one form of EB cannot become a different form. For instance, if you have been diagnosed with a less severe form of EB you will never develop one of the more severe forms. Many of the symptoms are specific to only one form of EB and will not be experienced by people living with another form.

If EB is suspected by medical staff because of physical symptoms, then a small sample of skin will be taken for examination under a microscope. This gives a very good indication of whether the symptoms are caused by EB and if so, what form of EB it is. Where possible the diagnosis is confirmed by genetic testing.

In less severe cases, yes, it is only the skin which is affected.

In more severe cases however, the internal linings of the body (such as the mouth, oesophagus and intestines) can be badly affected as well. Other tissues which may be affected include the teeth, nails and eyes.

In some severe forms the fingers and toes can fuse to give a mitten-like appearance. Although there are characteristic symptoms of EB they vary hugely between patients.

While we tend to talk mostly about the effects on skin, many of the potential treatments currently being researched will treat both external and internal wounding.

No, there is currently no cure for EB. Treatment of the condition presently consists of the management of symptoms, which has improved dramatically over the years. There is much research being undertaken worldwide however, to find effective treatments and cures. DEBRA Ireland is funding a variety of projects aimed at developing treatments and cures for EB (please see our research pages for more detail).