Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Jan;49(1):59-61.
doi: 10.1002/jcu.22922. Epub 2020 Sep 16.

A new prenatal sonographic sign of epidermolysis bullosa

Daniela Chen  1 , Shachar Zuckerman  2 , Yehudit Akerman  3 , Ori Shen  3
Affiliations
Case Reports

A new prenatal sonographic sign of epidermolysis bullosa

Daniela Chen et al. J Clin Ultrasound. 2021 Jan.

Abstract

We report on the prenatal sonographic appearance of epidermolysis bullosa (EB). The third viable pregnancy of a consanguineous couple was found at 23 weeks to have dysplastic external ears and nose. The neonate was born at 33 weeks and was found to have junctional EB with pyloric atresia. On reviewing the 23-week ultrasound images, skin denudation was evident. This is a report of visualization of skin denudation in EB. When EB is suspected prenatally, special attention should be given to the visualization of skin surfaces.

Keywords: epidermolysis bullosa; pyloric atresia, obstetrics, skin; ultrasonography.

PubMed Disclaimer

References

REFERENCES

    1. Achiron R, Hamiel-Pinchas O, Engelberg S, Barkai G, Reichman B, Mashiach S. Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography. Prenat Diagn. 1992;12:765-771.
    1. Azarian M, Dreux S, Vuillard E, et al. Prenatal diagnosis of inherited epidermolysis bullosa in a patient with no family history: a case report and literature review. Prenat Diagn. 2006;26:57-59.
    1. De Geyter J, Filges I, Tercanli S. Diagnostic challenge: prenatal ultrasound findings in severe epidermolysis bullosa. Ultraschall Med. 2018;39:600.
    1. Jeong BD, Won HS, Lee MY, Shim JY, Lee PR, Kim A. 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.
    1. Dural O, Acar DK, Ekiz A, et al. Prenatal ultrasound findings and a new ultrasonographic sign of epidermolysis bullosa with congenital pyloric atresia: a report of three cases. J Med Ultrason. 2014;41:495-498.

Publication types

LinkOut - more resources