Zusammenfassung
In diesem Kapitel sollen eine Reihe monogener Erkrankungen besprochen werden, bei denen genetische Ursachen ein spezifisches klinisches Krankheitsbild und eine bestimmte Histopathologie verursachen. Für die Diagnosefindung ist die Kenntnis der histopathologischen Veränderungen in vielen Fällen hilfreich, aber oft eben auch nur ein Baustein in der Diagnosefindung unter anderen. Dies gilt insbesondere für die große Gruppe der Verhornungsstörungen, die häufig ein relativ monomorphes histopathologisches Bild wie eine benigne epidermale Hyperproliferation aufweisen, ohne dass die Histologie alleine einen Rückschluss auf eine bestimmte Diagnose definitiv erlaubt. Die Verknüpfung von klinischem Bild und histologischem Substrat sind deshalb gerade bei Verhornungsstörungen von besonderer Wichtigkeit.
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Traupe, H., Metze, D. (2003). Verhornungsstörungen, hereditäre Epidermolysen und epidermale Fehlbildungen. In: Kerl, H., Garbe, C., Cerroni, L., Wolff, H.H. (eds) Histopathologie der Haut. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-07784-9_18
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