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Epidermolysis bullosa, dominant dystrophic
Epidermolysis bullosa, dystrophic
 
Overview   Symptoms   Treatment   Prevention   

Epidermolysis bullosa

Alternative names:

dominant and recessive epidermolysis bullosa; epidermolysis bullosa letalis; epidermolysis bullosa simplex; Weber-Cockayne syndrome

Definition:

A group of inherited disorders in which massive blistering of the skin develops in response to minor trauma.

Causes, incidence, and risk factors:

Epidermolysis bullosa consists of several different conditions, varying in severity from minor blistering to a lethal form in which the constant massive blistering and scarring ultimately lead to death. These conditions are inherited as either autosomal dominant or autosomal recessive traits.

The hallmark of these conditions is the formation of large, fluid-filled blisters that develop in response to minor trauma. Some infants may have large blisters at birth. Others start shortly after birth. Chafing (wearing away) of the skin, rubbing, or even increased room temperature may cause blisters to form.

In the severe forms, scarring after blister formation may cause deformities, fusion of the fingers and toes, contracture deformities (as at the fingers, elbows and knees) and mouth and esophagus scarring that leads to feeding and swallowing difficulties. Secondary infection is common.


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