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Multiple Facetten der genetisch bedingten Hautfragilität

The many facets of inherited skin fragility

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Zusammenfassung

Die genetisch bedingte Hautfragilität umfasst eine Gruppe von heterogenen Erkrankungen, bezeichnet als Epidermolysis bullosa (EB), die mit Bildung von Blasen oder Erosionen nach mechanischer Belastung der Haut einhergehen. Das Spektrum der klinischen Manifestationen ist breit sowie auch der molekulare Hintergrund. Die Haut, aber auch Schleimhäute und andere Organe können mit betroffen sein. In der Praxis sehen wir häufig Patienten mit milder, genetisch bedingter Hautfragilität, die kaum medizinische Betreuung benötigen und oft unter- oder fehldiagnostiziert werden. Die klassischen, eher schweren Subtypen der EB werden meist molekulargenetisch diagnostiziert, um den Familien genetische Beratung und pränatale Diagnostik anbieten zu können. Diese Patienten werden in spezialisierten Zentren medizinisch interdisziplinär betreut. Neben der Wundbehandlung und der Patientenführung, die von der Prognose abhängig ist, untersuchen die Forscher neue gezielte Therapieoptionen. Die modernen Sequenzierungsmethoden ermöglichen die Identifikation neuer, seltener EB-Subtypen.

Abstract

The inherited skin fragility encompasses a heterogeneous group of disorders, collectively designated as epidermolysis bullosa, characterized by recurrent mechanically induced blisters, erosions or wounds. The spectrum of clinical manifestations is broad, as well as the molecular background. Besides the skin, mucosal membranes and other organs can be affected. In real-world practice, patients with mild genetic skin fragility usually do not require medical care and often remain underdiagnosed. In contrast, the well-defined severe EB subtypes are recognized based on typical clinical features. The molecular diagnostics is usually performed in order to allow genetic counselling and prenatal diagnosis. Besides wound care and careful management of the disease complications, new experimental targeted therapies are being developed. New very rare forms of inherited skin fragility have been identified with modern sequencing methods.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. C. Has und D. Kiritsi geben an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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  1. Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Hauptstr. 7, 79104, Freiburg, Deutschland

    C. Has & D. Kiritsi

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  1. C. Has
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  2. D. Kiritsi
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Correspondence to C. Has.

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Has, C., Kiritsi, D. Multiple Facetten der genetisch bedingten Hautfragilität. Hautarzt 65, 490–498 (2014). https://doi.org/10.1007/s00105-013-2711-1

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