Prenatal ultrasound findings and a new ultrasonographic sign of epidermolysis bullosa with congenital pyloric atresia: a report of three cases.
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.
Department of Maternal Fetal Medicine, Kanuni Sultan Suleyman Training and Research Hospital, Turgut Ozal Cad. No. 1 Halkalı, Kucukcekmece, Istanbul, Turkey. cinozlem@hotmail.com.
Ozlem
O
Dural
Department of Maternal Fetal Medicine, Kanuni Sultan Suleyman Training and Research Hospital, Turgut Ozal Cad. No. 1 Halkalı, Kucukcekmece, Istanbul, Turkey.
Deniz K
DK
Acar
Department of Maternal Fetal Medicine, Kanuni Sultan Suleyman Training and Research Hospital, Turgut Ozal Cad. No. 1 Halkalı, Kucukcekmece, Istanbul, Turkey.
Ali
A
Ekiz
Department of Maternal Fetal Medicine, Kanuni Sultan Suleyman Training and Research Hospital, Turgut Ozal Cad. No. 1 Halkalı, Kucukcekmece, Istanbul, Turkey.
Halil
H
Aslan
Department of Maternal Fetal Medicine, Kanuni Sultan Suleyman Training and Research Hospital, Turgut Ozal Cad. No. 1 Halkalı, Kucukcekmece, Istanbul, Turkey.
İbrahim
İ
Polat
Department of Maternal Fetal Medicine, Kanuni Sultan Suleyman Training and Research Hospital, Turgut Ozal Cad. No. 1 Halkalı, Kucukcekmece, Istanbul, Turkey.
Gokhan
G
Yildirim
Department of Maternal Fetal Medicine, Kanuni Sultan Suleyman Training and Research Hospital, Turgut Ozal Cad. No. 1 Halkalı, Kucukcekmece, Istanbul, Turkey.
Bekir
B
Gulac
Department of Dermatology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
Yeliz
Y
Erdemoglu
Department of Pediatric Surgery, Avicenna Hospital, Istanbul, Turkey.
Ali
A
Cay
Department of Pediatrics, Avicenna Hospital, Istanbul, Turkey.
Osman
O
Hacıhasanoglu
D000328:Adult; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging* / Q000473:pathology / Q000601:surgery; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D055815:Young Adult
Chorioamniotic membrane separation; Echogenic amniotic fluid; Epidermolysis bullosa; Prenatal diagnosis; Pyloric atresia; Ultrasonography