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Hereditäre Epidermolysen

  • Cristina Has
Chapter
Part of the Springer Reference Medizin book series (SRM)

Zusammenfassung

Der Begriff „hereditäre Epidermolysis bullosa“ (EB) umfasst klinisch sowie genetisch heterogene Erkrankungen, die mit Blasen der Haut und der hautnahen Schleimhäute nach minimalen Traumen einhergehen. Der klinische Schweregrad reicht von schweren Subtypen mit extremer Hautfragilität, disseminierten Blasen und Wunden bis zu milden Subtypen mit Blasen erst nach ausgeprägter mechanischer Belastung. Die Inzidenz für die gesamte Erkrankungsgruppe wurde auf etwa 1 pro 50.000 Geburten geschätzt. In Deutschland weisen die Daten des EB-Netzwerks auf eine Inzidenz von 1 von 25.000 Geburten hin (www.netzwerk-eb.de). Ursächlich für die hereditäre EB sind Mutationen in Genen, die für Proteine kodieren, die in der epidermalen oder dermoepidermalen Adhäsion eine Rolle spielen. Die revidierte Klassifikation der EB umfasst fünf Ebenen: die Blasenbildungsebene, den klinischen Phänotyp, den Erbmodus, die relative Expression des betroffenen Proteins und die krankheitsverursachende Mutation.

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Copyright information

© Springer-Verlag GmbH Deutschland, ein Teil von Springer Nature 2018

Authors and Affiliations

  1. 1.Klinik für Dermatologie und VenerologieUniversitätsklinikum FreiburgFreiburgDeutschland

Section editors and affiliations

  • Michael Hertl
    • 1
  1. 1.Zentrum für HautkrankheitenMarburgGermany

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