Aplasia Cutis Congenita, Elevated Alpha-Fetoprotein, and a Distinct Amniotic Fluid Acetylcholinesterase Electrophoretic Band

ABSTRACT

Aplasia cutis congenita affecting the elbows, knees, hips, and gluteal area was observed in a female newborn, product of a twin pregnancy. One of the twins was a fetus papyraceous detected at 15 weeks of pregnancy. During the course of the pregnancy, maternal thrombocytosis was diagnosed and treated with aspirin. α-Fetoprotein was elevated in maternal serum and amniotic fluid, and a distinct electrophoretic acetyl-cholinesterase band was seen in amniotic fluid. These findings are in agreement with the classification of aplasia cutis congenita as proposed by Frieden et al in which type V is related to the presence of a fetus papyraceous or placental infarcts. The findings in the present case may be explained by the effect of the dead twin on the surviving fetus and the extensive denuded skin areas. Long-term follow-up of the infant showed that the lesions were cured, most of them with minimal scars. Increased risk for aplasia cutis congenita should be considered when elevated maternal and amniotic fluid α-fetoprotein and a distinct electrophoretic band of acetylcholinesterase are found. Especially when one of the twins is dead.