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Epidermolysis bullosa hereditaria

  • M. Laimer
  • C.M. Lanschützer
  • E. Nischler
  • A. Klausegger
  • A. Diem
  • G. Pohla-Gubo
  • J.W. Bauer
  • H. HintnerEmail author
Leitthema

Zusammenfassung

Epidermolysis bullosa (EB) steht für eine heterogene Gruppe seltener, erblicher Krankheiten, deren Hauptcharakteristikum die ausgeprägte Fragilität der Haut und Schleimhäute bei geringster mechanischer Belastung ist. In den letzten Jahren wurden bedeutende Fortschritte im Verständnis der Molekularpathologie der EB erzielt, wodurch eine verbesserte Klassifikation mit weit reichenden Auswirkungen auf Diagnose- und Prognosestellung, genetische Beratung, pränatale und Präimplantationsdiagnose sowie gentherapeutische Ansätze etabliert werden konnte. Die EB weist neben mukokutanen Veränderungen zahlreiche Systemmanifestationen auf, deren Behandlung einen multidisziplinären Zugang erfordert. So sind z. B. ophthalmologische, dentale, gastrointestinale, pulmonale, urogenitale sowie hämatologische und alimentäre Probleme nur durch eine fächerübergreifende Zusammenarbeit bewältigbar. Die vorliegende Übersichtsarbeit bespricht die jüngsten Entwicklungen auf dem Gebiet der molekularen Charakterisierung der EB sowie die klinische Präsentation ihrer wichtigsten Subtypen und gibt einen Ausblick auf viel versprechende molekulare Therapien wie „Gen-“, „Zell-“, „Vektor-“ und „Proteintherapie“.

Schlüsselwörter

Epidermolysis bullosa hereditaria Molekularpathologie eb-haus Austria Molekulare Therapie Multidisziplinarität 

Hereditary epidermolysis bullosa

Abstract

Hereditary epidermolysis bullosa (EB) is a term for a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes following minor trauma. Significant progress has been made in understanding the molecular basis of EB, which has far-reaching implications for an improved classification with consequences for prognosis, genetic counseling, DNA-based prenatal and preimplantation testing, and the development of future treatments including gene therapy. Besides mucocutaneous changes, EB leads to a number of systemic manifestations whose management requires multidisciplinary access. Extracutaneous complications include ophthalmologic, dental, gastrointestinal, pulmonary, urogenital, hematologic, and nutritional problems. This article reviews the progress that has been made in the understanding of the molecular basis of EB, clinical aspects of major EB subtypes, and the management of patients suffering from EB, and it gives an outlook on molecular therapy projects such as gene, cell, vector, and protein therapies.

Keywords

Hereditary epidermolysis bullosa Molecular pathology EB-House Austria Molecular therapy Multidisciplinary access 

Notes

Interessenkonflikt

Der korrespondierende Autor gibt an, dass kein Interessenkonflikt besteht.

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Copyright information

© Springer Medizin Verlag 2008

Authors and Affiliations

  • M. Laimer
    • 1
  • C.M. Lanschützer
    • 1
  • E. Nischler
    • 1
  • A. Klausegger
    • 1
  • A. Diem
    • 1
  • G. Pohla-Gubo
    • 1
  • J.W. Bauer
    • 1
  • H. Hintner
    • 1
    Email author
  1. 1.Universitätsklinik für DermatologieParacelsus Medizinische Privatuniversität (PMU) Salzburg; Salzburger Landeskliniken (SALK)SalzburgÖsterreich

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