Ultraschall in Med 2018; 39(06): 600-601
DOI: 10.1055/a-0720-8983
Title Page
© Georg Thieme Verlag KG Stuttgart · New York

A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa

Eine diagnostische Herausforderung: schwere Verlaufsform der Epidermolysis Bullosa im pränatalen Ultraschall
Julie De Geyter
1  Medical Genetics, Institute of Medical Genetics and Pathology, University-Hospital and University of Basel, Basel, Switzerland
2  University of Basel, Basel, Switzerland
,
Isabel Filges
1  Medical Genetics, Institute of Medical Genetics and Pathology, University-Hospital and University of Basel, Basel, Switzerland
2  University of Basel, Basel, Switzerland
3  Department of Clinical Research, University-Hospital Basel, Basel, Switzerland
,
Sevgi Tercanli
4  Ultraschallpraxis Freie Strasse, Basel, Switzerland
› Author Affiliations
Further Information

Publication History

Publication Date:
14 December 2018 (online)

Introduction

Epidermiolysis bullosa is a rare condition with clinical and genetic heterogeneity. This report describes the prenatal clinical manifestations in a case with a severe form of junctional epidermiolysis bullosa with pyloric stenosis. We discuss the diagnostic challenge but also the ultrasound signs emerging to be reminiscent of this condition.