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Ichthyosen

Pathophysiologische Modelle der epidermalen Differenzierung

The ichthyoses

Pathophysiological models of epidermal differentiation

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Zusammenfassung

Die Ichthyosen sind eine durch Schuppung oder Keratosen charakterisierte heterogene Krankheitsgruppe monogenetisch vererbter Verhornungsstörungen. In der Vergangenheit wurden sie aufgrund klinischer Zeichen und des Vererbungsmusters nosologisch eingeteilt. Als Folge des massiven Wissenssprunges im Gebiet der molekularen Genetik wurden nun zahlreiche Gendefekte im Gebiet der Ichthyosen aufgeklärt. Dadurch trat die Komplexität der Ichthyosen zutage, wobei ähnliche oder gleiche Phänotypen durch Mutationen in verschiedenen Genen verursacht werden können, währenddessen umgekehrt einzelne Gene in verschiedenen, zum Teil stark divergierenden Phänotypen resultieren können. Daher wurde eine neue Klassifizierung notwendig, die klinische und neue molekulargenetische Erkenntnisse berücksichtigt und vereint. In dieser Publikation folgen wir größtenteils der Einteilung, die anlässlich der ersten Ichthyosis Consensus Conference in Sorèze, Frankreich, festgelegt wurde.

Abstract

The ichthyoses are a heterogeneous group of monogenetically inherited disorders of cornification, and characterized clinically by scaling or hyperkeratosis. Historically, they were classified by clinical features and inheritance patterns. As a result of the recent molecular biological revolution, the ichthyoses are now recognized as comprising many diverse entities. Importantly, identical phenotypes may be caused by mutations in multiple genes, while mutations in a single gene may result in multiple and sometimes widely divergent phenotypes. The considerable complexity of this clinically and genetically heterogeneous group of disorders has prompted the need for a new classification. A classification that uses terminology based on a combination of the clinical and molecular genetic details, for instance loricrin keratoderma, is desirable. In this chapter we will use in principle the nosology adopted recently by an international group of experts at the First Ichthyosis Consensus Conference in Sorèz, France.

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  1. Service de Dermatologie et Vénéréologie, CHUV, Hopital de Beaumont, 1011, Lausanne, Schweiz

    D. Hohl & M. Huber

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  1. D. Hohl
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  2. M. Huber
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Correspondence to D. Hohl.

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Hohl, D., Huber, M. Ichthyosen. Hautarzt 64, 12–21 (2013). https://doi.org/10.1007/s00105-012-2407-y

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