Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk.

Epidermolysis bullosa with pyloric atresia (EB-PA) is a rare autosomal recessive genetic disease with a poor prognosis. We report a case of EB-PA in a non-consanguineous couple with a non-contributory family history. The primigravid woman was referred to us because of polyhydramnios associated with fetal gastric dilatation at 33 weeks of gestation. Maternal serum alpha-fetoprotein (AFP) had been elevated at 15 weeks' gestation (3.08 multiples of the median), and ultrasound examination showed polyhydramnios with echogenic amniotic fluid, gastric dilatation, and no other associated malformation. The fetal karyotype was normal female (46,XX). Acetylcholinesterase (ACHe) and AFP levels in the amniotic fluid were normal. Labor occurred spontaneously at 35 weeks' gestation. Clinical examination of the newborn showed large areas of cutaneous blisters and erosions, as well as pyloric atresia. Immunofluorescence analysis of skin samples confirmed EB-PA. Molecular analysis showed a new mutation of the integrin beta-4 gene: heterozygote missense deletions (3807delC/310delC, respectively, exons 31 and 5). The child died from severe sepsis at the age of 13 days. Our observation emphasizes the difficulty of interpreting prenatal ultrasound findings when there is no suggestive context.