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Definition of «Epidermolysis bullosa simplex»

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Epidermolysis bullosa simplex: A blistering skin condition usually inherited as an autosomal dominant disease. The faulty genes are those that provide instructions for producing keratin, a fibrous protein in the top layer of skin. As a result, the skin splits in the epidermis, producing a blister.

Epidermolysis bullosa simplex (EBS) usually begins with blistering that is evident at birth or shortly afterward. In a localized, mild form of EBS called Weber-Cockayne, blisters rarely extend beyond the feet and hands. In some subtypes of EBS, the blisters occur over widespread areas of the body. Other signs may include thickened skin on the palms of the hands and soles of the feet; rough, thickened, or absent fingernails or toenails; and blistering of the soft tissues inside the mouth. Less common signs include growth retardation; blisters in the esophagus; anemia (a reduction in the red blood cells that carry oxygen to all parts of the body); scarring of the skin; and milia, which are small white skin cysts. See also: Epidermolysis bullosa.

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