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Junctional Epidermolysis Bullosa


Epidermolysis bullosa (EB) is a group of genetically determined disorders characterized by excessive susceptibility of the skin and mucosae to separate from the underlying tissues following mechanical trauma. The individual diseases vary in their impact from relatively minor disability to death in infancy. Junctional epidermolysis bullosa is a group of inherited disorders, due to mutation in one of the three genes encoding components of the laminin 5 protein, characterized by mechanically induced blistering occuring within the membrane at the level of the lamina lucida. Previously Junctional EB was more usually known as EB letalis, however some cases can survive with relatively little handicap into adult life. In the Herlitz type ( or lethal JEB) blisters are present at birth. The mouth and pharynx are affected often severely causing pain and difficulty with feeding. In the benign junctional epidermolysis bullosa areas of previous blistering show a variable degree of atrophy and scarring alopecia. Congenital pyloric atresia occurs in a small number of infants with JEB.




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