Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein.
A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholinesterase, and normal ultrasound findings.
Bass
H N
HN
Department of Medical Genetics, Kaiser Permanente Medical Center, Panorama City, CA 91402-5423.
Miranda
C
C
Oei
R
R
Crandall
B F
BF
D000110:Acetylcholinesterase / Q000032:analysis* / Q000097:blood; D000328:Adult; D000653:Amniotic Fluid / Q000737:chemistry*; D015415:Biomarkers / Q000032:analysis / Q000097:blood; D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000401:mortality; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D000509:alpha-Fetoproteins / Q000032:analysis*
D015415:Biomarkers; D000509:alpha-Fetoproteins; D000110:Acetylcholinesterase