Alpha‐fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant Article

Shulman, LP, Elias, S, Andersen, RN et al. (1991). Alpha‐fetoprotein and acetylcholinesterase are not predictive of fetal junctional epidermolysis bullosa, Herlitz variant . 11(11), 813-818. 10.1002/pd.1970111102

cited authors

  • Shulman, LP; Elias, S; Andersen, RN; Phillips, OP; Milunsky, A; Holbrook, KA; Smith, LT; Fine, J‐; Simpson, JL

fiu authors

abstract

  • Junctional epidermolysis bullosa, Herlitz variant (junctional EB‐Herlitz) is a lethal autosomal recessive skin disorder currently amenable to prenatal diagnosis only by direct analysis of fetal skin. However, elevated levels of alpha‐fetoprotein, as well as the presence of acetylcholinesterase in amniotic fluid, have been associated with other severe fetal genodermatoses. Fetal skin samplings were performed in ten pregnancies at risk for fetal junctional EB‐Herlitz, with three fetuses affected on the basis of electron microscopic detection of blisters within the lamina lucida and abnormal hemidesmosomes. In neither affected nor unaffected pregnancies were maternal serum or amniotic fluid alpha‐fetoprotein levels elevated. Moreover, alphafetoprotein levels in both maternal serum and amniotic fluid were not statistically different comparing affected and unaffected fetuses. Acetylcholinesterase was not present in the amniotic fluid samples of the three affected pregnancies. Unlike other severe fetal genodermatoses, neither alpha‐fetoprotein nor acetylcholinesterase was predictive of junctional EB‐Herlitz. Copyright © 1991 John Wiley & Sons, Ltd.

publication date

  • January 1, 1991

Digital Object Identifier (DOI)

start page

  • 813

end page

  • 818

volume

  • 11

issue

  • 11