Antenatal Diagnosis of Recessive Dystrophic Epidermolysis Bullosa: Collagenase Expression in Cultured Fibroblasts as a Biochemical Marker
We perfomed fetoscopy and skin biopsy on a 10-week fetus at risk for recessive dystrophic epidermolysis bullosa (RDEB). Ultrastructural analysis of the tissue revealed dermolytic blister formation in the skin characteristic of the disease. To develop a biochemical test for use in antenatal diagnosis...
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Published in | Journal of investigative dermatology Vol. 87; no. 5; pp. 597 - 601 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Danvers, MA
Elsevier Inc
01.11.1986
Nature Publishing |
Subjects | |
Online Access | Get full text |
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Summary: | We perfomed fetoscopy and skin biopsy on a 10-week fetus at risk for recessive dystrophic epidermolysis bullosa (RDEB). Ultrastructural analysis of the tissue revealed dermolytic blister formation in the skin characteristic of the disease. To develop a biochemical test for use in antenatal diagnosis of RDEB, we established skin fibroblast cultures from the 20-week aborted fetus. The collagenase production by fetal RDEB fibroblast cultures. The concentration in culture medium from fetal RDEB cultures was 5.42 ± 0.72 μg/ml (mean ± DE) compared with 2.24 ± 1.11 μg/ml in normal adult control cultures and 2.05 ± 0.61 μg/ml in cultures from patients with other genetic forms of epidermolysis bullosa (p > 0.025). In contrast, the concentration of collagenase in the fetal RDEB culture medium was not different from that seen in cell cultures from known patients with RDEB (5.34 ± 1.12 μg/ml). Collagenase activity of the fetal RDEB medium was also increased ˜3.5-fold. These data indicate that enhanced expression of collagenase by fetal RDEB skin fibroblasts can serve as a biochemical adjunct, and possibly an alternative, to morphologic examination of tissue for antenatal diagnosis. |
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Bibliography: | ObjectType-Case Study-3 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-2 |
ISSN: | 0022-202X 1523-1747 |
DOI: | 10.1111/1523-1747.ep12455843 |