Hereditäre Blasen bildende Hauterkrankungen |
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Authors: | Dr. C. Has J. S. Kern L. Bruckner-Tuderman |
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Affiliation: | 1. Universit?ts-Hautklinik Freiburg, 2. Universit?ts-Hautklinik Freiburg, Hauptstra?e 7, 79104, Freiburg
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Abstract: | Epidermolysis bullosa (EB) is a group of genetic skin disorders whose common feature is the formation of blisters following minor trauma. They present with a wide clinical spectrum of manifestations because of a variety of molecular defects. In patients with mild phenotypes, only skin is affected. The most severe EB forms are multiorgan disorders with a poor prognosis. EB arises from abnormalities in proteins of the dermal-epidermal junction. These specialized protein components aggregate to form anchoring complexes, which attach the epidermis to the dermis. Three major EB-forms can be distinguished on the basis of ultrastructural blistering level: EB simplex—epidermolytic, junctional EB—in the lamina lucida and dystrophic EB—dermolytic. To establish a provisional diagnosis for an EB patient, clinical data, family history and morphologic examination of the skin, e.g. by antigen-mapping, are needed. Complete knowledge of the genetic defect provides the basis to a rational genetic counseling and prenatal testing. Treatment of EB is based on wound care; multidisciplinary management of cases with severe course is required. |
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