Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: The diagnostic role of prenatal ultrasonography

R. Achiron, O. Hamiel‐Pinchas, S. Engelberg, G. Barkai, B. Reichman, S. Mashiach

Research output: Contribution to journalArticlepeer-review

Abstract

Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Alpha‐ fetoprotein (AFP) and skin biopsy have been used for prenatal diagnosis of this condition. A patient in whom normal levels of amniotic AFP at 16 weeks' gestation presumably excluded the disease and who was at risk for aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is described. However, 10 weeks later, ultrasonographic examination revealed hydramnios, a dilated stomach, a deformed external ear, and a contracted fisted hand. All signs were confirmed postnatally. The role of ultrasonography and the value of other diagnostic methods in this congenital disease are discussed.

Original languageEnglish
Pages (from-to)765-771
Number of pages7
JournalPrenatal Diagnosis
Volume12
Issue number9
DOIs
StatePublished - Sep 1992

Keywords

  • Aplasia cutis congenita
  • Epidermolysis bullosa
  • Pyloric atresia
  • Ultrasound diagnosis

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