Epidermolysis Bullosa also known as EB is a rare genetic connective tissue disorder that generally presents itself at birth or shortly after with missing skin and/ or blistering skin.

Due to the fragility of the skin, the slightest touch, rub or bump can cause painful blistering and open wounds. Children for this reason are known worldwide as the Butterfly Children, because their skin is as fragile as a Butterflys’ wing. 

The condition has a number of distinct forms. In its least severe forms, the blistering is confined to the hands and feet making holding things and walking extremely painful. For many affected by the condition, the blistering is not limited to the skin but also affects the inner body linings such as the mouth and esophagus. The eating of solids is, in these cases, almost impossible, and the disposal of the body waste incredibly painful.

EB may be inherited in either a dominant or recessive form. In a dominant case of EB usually one parent is carrying the gene for EB and is affected by the condition themselves, whereas in a recessive form, both parents carry the gene and are usually unaffected. The birth of an affected child with EB is unexpected. 

There is a 50% chance of passing the disorder to children when dominant, and a 25% chance in recessive EB.

EB can also arise spontaneously in either the sperm or the egg before conception. This is known as spontaneous mutation, where neither of the parents carries EB.  

Rarely, a severe form of EB can be “acquired” as the result of autoimmune disease, whereby the body develops antibodies to its own tissue proteins. 

Certain types of EB can be fatal in infancy; others may be severely life-limiting. It is estimated that there are 500,000 people in the world suffering with EB. Although it is believed that an accurate statistic cannot be given as many cases go undedicated due to its rarity or lack of knowledge about EB. 

EB can be divided into 3 main types: Simplex, Dystrophic and Junctial. To read more information on the different types please click here.

Whilst considerable progress has been made in recent years in understanding EB and identifying the genes that cause the condition, there is as yet no effective treatment or a cure.

Information taken from www.nhs.uk, www.thebutterflynetworkhere2help.com and www.debra.org.uk

For further information visit:

DEBRA International