Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
J Clin Ultrasound. 2021 Jan;49(1):59-61. doi: 10.1002/jcu.22922. Epub 2020 Sep 16.
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.
我们报告了先天性大疱性表皮松解症（EB）的产前超声表现。一对近亲夫妇的第三胎在 23 周时发现外耳和鼻子发育不良。新生儿在 33 周时出生，被诊断为交界性 EB 合并幽门闭锁。在回顾 23 周的超声图像时，可见皮肤剥脱。本报告描述了 EB 中皮肤剥脱的可视化。当怀疑胎儿患有 EB 时，应特别注意皮肤表面的可视化。
