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

Lee P. Shulman*, Sherman Elias, Richard N. Andersen, Owen P. Phillips, Aubrey Milunsky, Karen A. Holbrook, Lynne T. Smith, Jo‐David ‐D Fine, Joe Leigh Simpson

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)813-818
Number of pages6
JournalPrenatal Diagnosis
Volume11
Issue number11
DOIs
StatePublished - Nov 1991

Keywords

  • Acetylcholinesterase
  • Alpha‐fetoprotein
  • Genodermatosis
  • Junctional
  • Prenatal diagnosis
  • epidermolysis bullosa, Herlitz variant

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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