Unusual prenatal sonographic findings without an elevated maternal serum alpha‐fetoprotein level in a fetus with epidermolysis bullosa

Abstract

A 31-year-old pregnant woman was referred to us at 34.6 weeks' menstrual age for sonographic evaluation of a fetal left lower limb abnormality. Sonographic findings revealed shortening of the left tibia and dorsal hyperflexion of the left foot. There was no family history of genetic disease, and the maternal serum alpha-fetoprotein concentration was normal. A male infant was born with extensive skin peeling, mainly on his left leg, associated with muscular dystrophy. Epidermolysis bullosa was confirmed on a skin biopsy; the neonate died 53 days after birth as a result of severe sepsis. Although cutaneous epidermolysis bullosa is difficult to diagnose prenatally, shortening and deformity of extremities may provide a clue to the diagnosis, even when the maternal alpha-fetoprotein concentration is normal. © 2015 Wiley Periodicals, Inc. J Clin Ultrasound 44:319-321, 2016.

A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa

“…Fetoscopy allows direct visual examination of skin lesions and is valuable to prenatal diagnosis in combination with fetal collagenase expression assessment. In high-risk women, prenatal genetic diagnosis can be performed by chorionic sampling, amniocentesis, or amniotic fluid cell DNA extraction [10]. Some studies have found that the AFP level in amniotic fluidis elevated, when the fetus has DEB [11].…”

A new prenatal sonographic sign of epidermolysis bullosa

“…Few cases have been published in which prenatal diagnosis was made on sonography and/or genetic testing. [1][2][3][4][5] We present a case with a previously unpublished prenatal sonographic sign of this rare and severe disease.…”

Dystrophic Epidermolysis Bullosa (DEB): How Can Pregnancy Alter the Course of This Rare Disease? An Updated Literature Review on Obstetrical Management with an Additional Italian Experience

“…EB was first hypothesized [23] on prenatal ultrasounds in a couple at risk due to the presence in the amniotic fluid of "snowflakes" (namely echogenic particles). Other related sonographic findings reported in the literature include enlarged stomach and polyhydramnios [24,25] (due to frequent association with pyloric atresia), deformed external ears and contracted fisted hand [24], shortening of long bones [26], complete chorioamniotic membrane separation [27] and localized skin denudation [28]. However, all these references are sporadic and lack scientific solidity, so a definite prenatal ultrasound diagnosis of EB still remains a fundamentally unresolved challenge.…”