Epidermolysis Bullosa

Epidermolysis Bullosa

What is Epidermolysis Bullosa?

Epidermolysis Bullosa, known as EB for short, is the name given to describe a rare group of genetic disorders that cause blistering of the skin. This blistering of the skin can come about as the result of the gentlest friction, and many common activities, such as rubbing or knocking the skin, can lead to large painful blisters.

Blistering of the skin.

The epidermis is the outermost layer of skin and "lysis" refers to a breakdown of the structure within this layer. Bullosa means blister. EB, therefore, refers to a condition that causes the breakdown and blistering of the outer layer of skin.

People with EB have extremely delicate skin, and children with the illness have been described as "Butterfly Children", as their skin is considered to be as fragile as a butterfly's wing.

EB can take over 20 different forms, each of which has characteristic symptoms. Some forms of EB are quite mild, but others can be more severe and incapacitating.

What causes Epidermolysis Bullosa?

EB is a genetic disorder, so it cannot be caught or contracted. It is most important to emphasise that it is not contagious in any way. It is always inherited, but the different forms of the disorder are passed from parents to children in different ways, which are still being researched.

Research in recent years has managed to identify the genes associated with some forms of the illness, but others remain to be identified.

In all cases of EB, the genetic defect causes the layers of skin to bond improperly with each other. As the bonds of the skin are easily broken, the skin becomes very fragile and can be easily broken, leading to blistering. The resulting blisters are the disorder's characteristic symptom.

What are its symptoms?

All forms of EB cause blisters on the skin, which in mild cases are localised to certain parts of the body and heal without permanently damaging the skin. More severe forms of EB can cause widespread blistering over large areas of skin leading to permanent scaring. If the fingers are severely affected the healing blisters could lead to fusion of the fingers with a resulting decrease in finger movements.

The inside of the mouth may blister, leading to discomfort and possibly restricting how wide the mouth can open. Blistering can also occur in the throat, affecting swallowing. Other mucosal areas, such as the eyes, vagina or anus can sometimes be affected.

How common is it?

EB is very rare, affecting only one in 20,000 newborn children in Ireland. Both girls and boys can be born with EB, and the disorder affects all races and populations world-wide.

Can Epidermolysis Bullosa be treated?

EB is a genetic disorder, so there is no cure available. Symptoms can be alleviated with specialist care, and your family doctor can advise on ointments and creams that may ease the pain of blistering. Our Lady's Hospital for Sick Children at Crumlin in Dublin has a specialist EB nurse who can provide care for particularly ill children.

Debra Ireland is the Irish branch of a worldwide organisation that offers advice and assistance to families of people with EB. Debra was founded in Ireland in 1988, and has sister associations in Britain, America, Australia, Austria and Holland.

The association funds research into EB, and can offer help and advice to families on a range of issues. The association is based at:

10 Burgh Quay, Dublin 2, Ireland.

Phone: (01) 6776855.

Fax: (01) 6776875.

You can email the organisation at info@debraireland.org, or visit their website at www.debraireland.org.

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