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Epidermolysis Bullosa (EB)

👤by AP 0 comments 🕔Friday, November 13th, 2015

Epidermolysis bullosa is a group of inherited conditions that affect the skin and mucus tissue lining the mouth. Epidermolysis bullosa is often manifested at birth or during infancy and characterized by severe fragility and blistering. Epidermolysis bullosa is due to multiple defective genes that normally synthesize structural proteins that are involved in the adherence of the epidermis (the superficial layer of skin) to the dermis (the deeper layer of the skin). Another term for this group of conditions is "mechanobullous disease," which distinguishes it from conditions that may appear superficially similar but are produced by autoimmune destruction of some of the same proteins that are defective in epidermolysis bullosa.

Epidermolysis bullosa acquisita (another condition) is an inappropriately named example of an autoimmune problem that really does not belong in discussion of the mechanobullous diseases.

Since mechanobullous diseases are inherited, the presence of a family history of this condition is the major risk factor. Mechanobullous diseases are rare. Their prevalence in the U.S. population is estimated to be about eight cases per million. There are four fairly distinctive clinical forms of this condition, and each is associated with different defective proteins: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, and Kindler syndrome. Mechanobullous diseases have been attributed to least 1,000 different mutations in 14 separate genes that code for various structural proteins near the junction of the epidermis and the dermis (the top layers of skin).

Epidermolysis Bullosa (EB) Symptoms and Signs Blisters

Blisters can accompany some types of skin rashes and inflammatory conditions, including certain autoimmune diseases. Depending upon the cause of the blisters, blisters may occur singly or in groups. In contrast to abscesses and boils, which are collections of inflammatory fluid found deep in the tissues, blisters are found in the most superficial layer of skin.

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AP / MedicineNet.com

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