Prenatal ultrasound findings and a new ultrasonographic sign of epidermolysis bullosa with congenital pyloric atresia: a report of three cases

J Med Ultrason (2001). 2014 Oct;41(4):495-8. doi: 10.1007/s10396-014-0532-1. Epub 2014 Mar 19.


Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare autosomal recessive disease that is characterized by fragility of the skin and mucous membranes. The course of EB-PA is usually severe and often lethal in the neonatal period. In most cases, prenatal diagnosis of this syndrome is considered in pregnancies at risk for recurrence. EB-PA can be described during pregnancy with sonographic signs such as polyhydramnios with a dilated stomach, the "snowflake sign", which are echogenic particles in the amniotic fluid, and several other anomalies. In this report, we present three cases of EB-PA suggested by the results of prenatal sonography, and describe a new ultrasonographic sign, i.e., complete chorioamniotic membrane separation, which can be helpful for the diagnosis. The prenatal diagnoses were confirmed postnatally. Two of the three cases had no family history, and one of these two cases was the product of a non-consanguineous couple.

Keywords: Chorioamniotic membrane separation; Echogenic amniotic fluid; Epidermolysis bullosa; Prenatal diagnosis; Pyloric atresia; Ultrasonography.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Ectodermal Dysplasia / diagnostic imaging*
  • Ectodermal Dysplasia / pathology
  • Ectodermal Dysplasia / surgery
  • Fatal Outcome
  • Female
  • Fetal Diseases / diagnostic imaging*
  • Fetal Diseases / pathology
  • Humans
  • Pregnancy
  • Ultrasonography, Prenatal*
  • Young Adult

Supplementary concepts

  • Epidermolysis bullosa with pyloric atresia