Epidermolysis Bullosa

Published on 05/03/2015 by admin

Filed under Dermatology

Last modified 05/03/2015

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Epidermolysis Bullosa

Epidermolysis bullosa (EB) is a group of genetic disorders characterized by mechanical fragility of the skin that leads to blister formation with minor trauma or friction.

Inherited EB is traditionally divided into three major categories – EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB) – that differ in the ultrastructural site of blister formation (Fig. 26.1).

The overall incidence is approximately 1 in 50 000 births, with EBS representing the most common form.

Mutations in the genes encoding at least 15 structural proteins of the skin can result in EB, with variable clinical phenotypes, ultrastructural findings, and inheritance patterns.

The major subtypes of EB and Kindler syndrome (now classified as a fourth form of EB) are summarized in Table 26.1.