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Erschienen in: Der Hautarzt 6/2014

01.06.2014 | Leitthema

Multiple Facetten der genetisch bedingten Hautfragilität

verfasst von: Prof. Dr. C. Has, D. Kiritsi

Erschienen in: Die Dermatologie | Ausgabe 6/2014

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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.
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Metadaten
Titel
Multiple Facetten der genetisch bedingten Hautfragilität
verfasst von
Prof. Dr. C. Has
D. Kiritsi
Publikationsdatum
01.06.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
Die Dermatologie / Ausgabe 6/2014
Print ISSN: 2731-7005
Elektronische ISSN: 2731-7013
DOI
https://doi.org/10.1007/s00105-013-2711-1

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