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Epidermolysis Bullosa Information and Treatment

Epidermolysis bullosa (EB) is a rare genetic disease characterized by the presence of extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. This fragility leads to blistering and shearing of the skin as a response to friction and everyday knocks and bumps. There are thought to be approximately 5,000 people in the UK who have one or other form of EB. It is present from birth although in some cases it may not show up until a little later in life. It affects both sexes, and is not specific to any racial group. 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.

Epidermolysis Bullosa (EB) encompasses a group of at least 12 seperate genetic diseases of the skin and sometimes the mucous membranes. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. Blisters may also occur on internal organs, such as the oesophagus, stomach and respiratory tract, without any apparent friction. In epidermolysis bullosa simplex, the level of separation and hence blister formation occurs within the top layer of the skin (epidermis), and scar formation does not occur. In junctional EB, the split occurs at the junction of the epidermis and the middle portion of the skin (dermis), and mild scarring can be seen. With dystrophic EB, the split and blister formation is deeper, and there can be extensive scarring. An acquired form, epidermolysis bullosa acquisita (EBA), occurs in adulthood and is usually associated with another disease, such as diabetes mellitus, tuberculosis, or colitis. Blisters usually develop on the hands and feet but can appear anywhere on the body, and there is scarring. Mild varieties of epidermolysis bullosa may be seen in as many as 1 in 50,000 births; severe forms may occur at the rate of 1 in 500,000 births.

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