What is junctional epidermolysis bullosa?

Junctional epidermolysis bullosa (JEB) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: Herlitz JEB and non-Herlitz JEB.

Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes. Herlitz JEB is the more severe form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body.

Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children have chronic malnutrition and slow growth. The extensive blistering leads to scarring and the formation of red, bumpy patches ... more.

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