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Epidermolysis bullosa

Ein Update

Epidermolysis bullosa

An update

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Zusammenfassung

Die hereditären Epidermolysis-bullosa- (EB-)Formen stellen eine Gruppe von Hauterkrankungen mit hoher Hautfragilität und in der Regel mit Blasenbildung nach minimalem Trauma dar. Das klinische Bild reicht von milden Formen mit reinen Hautsymptomen bis zu Formen, die in den ersten Lebensmonaten zum Tode führen. Bei schweren generalisierten EB-Formen können sekundäre Probleme, wie z. B. aggressive Plattenepithelkarzinome der Haut, Anämien, Ösophagusstenosen oder Kardiomyopathien auftreten. In diesen Fällen ist eine interdisziplinäre Patientenbetreuung essenziell. Die Einteilung der EB erfolgt in 4 Hauptgruppen: die EB simplex (EBS), die junktionale EB (JEB), die dystrophe EB (DEB) und das Kindler-Syndrom. Insgesamt sind 33 verschiedene Unterformen bekannt. Im Jahr 2008 wurde eine neue EB-Klassifikation eingeführt. Eine Reihe von Eponymen wurde durch phänomenologische Bezeichnungen der Unterformen abgelöst. Im folgenden Beitrag werden die EB-Formen vor dem Hintergrund der aktuellen Klassifikation, der molekularpathogenetischen Zusammenhänge und der sich abzeichnenden neuen Therapieoptionen vorgestellt.

Abstract

Epidermolysis bullosa (EB) represents a group of diseases characterized by skin fragility usually developing blisters after minimal trauma. The clinical picture ranges from mild subtypes with minor skin reactions to severe forms with lethal outcome within the first months of life. In the severe generalized subtypes, complications such as aggressive squamous cell carcinoma of the skin, anemia, esophageal stenosis and cardiomyopathy can occur so that multidisciplinary patient care is necessary. EB can be divided in four types – EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. All together 33 subtypes can be distinguished. In 2008 a revised EB classification was introduced. Several eponyms for EB subtypes were replaced by descriptive names. The review presents the EB subtypes based on the new EB classification system, the molecular background and new therapeutic options.

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Abbreviations

DEB:

dystrophe Epidermolysis bullosa

BDN:

bullöse Dermolyse des Neugeborenen

DDEB:

dominant dystrophe Epidermolysis bullosa

EBS:

Epidermolysis bullosa simplex

EM:

Elektronenmikroskopie

IFM:

Immunfluoreszensmikroskopie

JEB:

junktionale Epidermolysis bullosa

MIM:

Mendelian Inheritance in Man Datenbank

RDEB:

rezessiv dystrophe Epidermolysis bullosa

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Danksagung

Mein Dank geht an PD Dr. C. Has und Prof. Dr. L. Bruckner-Tuderman für die kritische Durchsicht des Manuskriptes.

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  1. Universitäts-Hautklinik, Universitätsklinikum Freiburg, Hauptstr. 7, 79104, Freiburg, Deutschland

    H. Schumann

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Schumann, H. Epidermolysis bullosa. Hautarzt 60, 614–621 (2009). https://doi.org/10.1007/s00105-008-1677-x

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