Prenatal exclusion of pyloric atresia-junctional epidermolysis bullosa syndrome.
作者信息
Shimizu H, Fine J D, Suzumori K, Hatta N, Shozu M, Nishikawa T
机构信息
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
出版信息
J Am Acad Dermatol. 1994 Sep;31(3 Pt 1):429-33. doi: 10.1016/s0190-9622(94)70205-5.
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.
CONCLUSION
19-DEJ-1 monoclonal antibody serves as a useful probe for the prenatal diagnosis of PA-JEB syndrome.
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