Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome.
BACKGROUND
The pyloric atresia--junctional epidermolysis bullosa (PA-JEB) syndrome is an autosomal recessive disorder with a poor prognosis. Electron microscopy of fetal skin has been the only reliable method for prenatal diagnosis.


OBJECTIVE
The purpose of this study was to make the prenatal diagnosis of PA-JEB syndrome with a more reliable method by means of immunocytochemical probes.


METHODS
Expression of a range of basement membrane antigens was examined in different types of JEB. On the basis of the results, a fetal skin biopsy specimen was obtained for prenatal diagnosis.


RESULTS
In PA-JEB syndrome (n = 2), GB3 antigen (BM600) was normally expressed; the 19-DEJ-1 antigen was completely absent. In fetal skin at risk for PA-JEB syndrome, the 19-DEJ-1 antigen was normally expressed, and no ultrastructural abnormality was found by electron microscopy. A normal male infant was delivered at 38 weeks of pregnancy.


CONCLUSIONS
19-DEJ-1 monoclonal antibody serves as a useful probe for the prenatal diagnosis of PA-JEB syndrome.
Shimizu
H
H
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
Fine
J D
JD
Suzumori
K
K
Hatta
N
N
Shozu
M
M
Nishikawa
T
T
D000328:Adult; D000911:Antibodies, Monoclonal; D000941:Antigens / Q000032:analysis; D001324:Autoantigens / Q000032:analysis; D001485:Basement Membrane / Q000276:immunology; D001706:Biopsy; D002352:Carrier Proteins; D015815:Cell Adhesion Molecules / Q000032:analysis; D003094:Collagen / Q000032:analysis; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis* / Q000473:pathology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011708:Pylorus / Q000002:abnormalities*; D012867:Skin / Q000276:immunology / Q000648:ultrastructure; D013577:Syndrome; D000097794:Kalinin; D000097805:Collagen Type XVII
D000911:Antibodies, Monoclonal; D000941:Antigens; D001324:Autoantigens; D002352:Carrier Proteins; D015815:Cell Adhesion Molecules; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D000097794:Kalinin; D000097805:Collagen Type XVII; C089136:19-DEJ-1 antigen; C486268:DST protein, human