[Hereditary blistering disorders].
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.
Has
C
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Universitäts-Hautklinik Freiburg. crishas@haut.ukl.uni-freiburg.de
Kern
J S
JS
Bruckner-Tuderman
L
L
D004820:Epidermolysis Bullosa / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D010348:Patient Care Team; D011296:Prenatal Diagnosis; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D012872:Skin Diseases, Vesiculobullous / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D013577:Syndrome