A Diagnostic Challenge: Prenatal Ultrasound Findings in Severe Epidermolysis Bullosa

Ultraschall Med 2018; 39(06): 600-601
DOI: 10.1055/a-0720-8983

Title Page

Eine diagnostische Herausforderung: schwere Verlaufsform der Epidermolysis Bullosa im pränatalen Ultraschall

Julie De Geyter

¹Medical Genetics, Institute of Medical Genetics and Pathology, University-Hospital and University of Basel, Basel, Switzerland

²University of Basel, Basel, Switzerland

,

Isabel Filges

¹Medical Genetics, Institute of Medical Genetics and Pathology, University-Hospital and University of Basel, Basel, Switzerland

²University of Basel, Basel, Switzerland

³Department of Clinical Research, University-Hospital Basel, Basel, Switzerland

,

Sevgi Tercanli

⁴Ultraschallpraxis Freie Strasse, Basel, Switzerland

References
1 Pfender EG, Lucky AW. Epidermiolysis bullosa with pyloric atresia. Gene reviews; 2017
2 Milunsky A, Milunsky JM. Genetic Disorders and the Fetus. Wiley; 2016 7th edition.
3 Yacoub T. et al. Maternal serum and amniotic fluid concentrations of alphafetoprotein in epidermolysis bullosa simplex. Br Med J 1979; 1: 307
4 Meizner I, Carmi R. The snowflake sign. A sonographic marker for prenatal detection of fetal skin denudation. J Ultrasound Med 1990; 9: 607-609
5 Lepinard C. et al. Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk. Prenat Diagn 2000; 20: 70-75
6 Katorza E. et al. Unusual prenatal sonographic findings of epidermolysis bullosa mimicking an amniotic band constriction ring. J Ultrasound Med 2009; 28: 73-75
7 Dural O. et al. Prenatal ultrasound findings and a new ultrasonographic sign of epidermiolysis bullosa with congenityl pyloric atresia: a report of three cases. J Med Ultrasonics 2014; 41: 495-498
8 Jeong BD. et al. Unusual prenatal sonographic findings without an elevated maternal serum alpha-fetoprotein level in a fetus with epidermolysis bullosa. J Clin Ultrasound 2016; 44: 319-321