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Hereditäre Verhornungsstörungen und epidermale Fehlbildungen

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Histopathologie der Haut

Part of the book series: Springer Reference Medizin ((SRM))

Zusammenfassung

In diesem Kapitel sollen eine Reihe monogener Erkrankungen besprochen werden, bei denen genetische Ursachen ein definiertes klinisches Krankheitsbild und bestimmte pathologische Veränderungen oder Reaktionsmuster verursachen. Die molekulare Aufklärung vieler Genodermatosen hat zu ihrer Reklassifizierung geführt, die in Ihren Ansätzen aber noch der traditionellen, an klinischen Entitäten orientierten Einteilung folgt. Entscheidend für die gezielte Diagnose von Genodermatosen sind die Familienanmnese, das klinischen Bild, die Histologie, manchmal auch Immunhistochemie, Laborchemische Untersuchungen, seltener die Elektronenmikrokopie. In bestimmten Fällen kann auf genetische Untersuchungen nicht verzichtet werden. Genodermatosen müssen genau abgeklärt werden, um das Risko assoziierter Erkrankungen an inneren Organen bei syndromischen Formen einschätzen und eine genetische Beratung einleiten zu können. Hilfestellung bieten spezielle Netzwerke (www.netzwerk-ichthyose.de und www.netzwerk-eb.de).

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Metze, D., Traupe, H. (2016). Hereditäre Verhornungsstörungen und epidermale Fehlbildungen. In: Cerroni, L., Garbe, C., Metze, D., Kutzner, H., Kerl, H. (eds) Histopathologie der Haut. Springer Reference Medizin. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-45133-5_20

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