Dystrophic Epidermolysis Bullosa

What is dystrophic epidermolysis bullosa?

Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder. The skin of those who have DEB is more fragile than normal. Minor injury causes blisters which often leave scars when they heal. DEB can be mild, causing little more than minor inconvenience, but it can also be severe, affecting the mouth, gullet and eyes in addition to the skin. DEB is not an infection, it is not contagious and it is not due to an allergy.

Dystrophic epidermolysis bullosa (DEB) is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further subdivided into multiple clinical subtypes.

DEB is different from the other forms of epidermolysis bullosa (EB), which include epidermolysis bullosa simplex, junctional epidermolysis bullosa and Kindler Syndrome. Individuals who have DEB will not develop one of the other types of epidermolysis bullosa at a later date.

What causes dystrophic epidermolysis bullosa?

The two outermost layers of skin, the epidermis and the dermis, are held together by a variety of proteins. In DEB, there is a genetic fault (mutation) in the structure of type 7 collagen, one of the most important of these proteins. A number of such mutations have been identified in DEB; some are common but others are only found in individual families. The mutations lead to reduced, altered or absent type 7 collagen which is unable to join the epidermis and dermis together as firmly as it should. When the skin in people with DEB is rubbed, even slightly, the two layers of skin separate and fluid accumulates in the gap between them, forming a blister.

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