Antenatal Diagnosis of Recessive Dystrophic Epidermolysis Bullosa: Collagenase Expression in Cultured Fibroblasts as a Biochemical Marker

• Published in: Journal of investigative dermatology Vol. 87; no. 5; pp. 597 - 601
• Main Authors: Bauer, Eugene A, Ludman, Mark D, Goldberg, James D, Berkowitz, Richard L, Holbrook, Karen A
• Format: Journal Article
• Language: English
• Published: Danvers, MA Elsevier Inc 01.11.1986; Nature Publishing
• Subjects: Biological and medical sciences; Biopsy; Bullous diseases of the skin; Cells, Cultured; Dermatology; Epidermolysis Bullosa - diagnosis; Epidermolysis Bullosa - enzymology; Epidermolysis Bullosa - pathology; Fetoscopy; Fibroblasts - enzymology; Genes, Recessive; Humans; Medical sciences; Microbial Collagenase - metabolism; Microscopy, Electron; Prenatal Diagnosis; Skin - embryology; Skin - enzymology; Bullous dermatosis; Human; Prenatal; Cell culture; Skin disease; Enzyme; Recessive character; Diagnostic; Collagenase; Fibroblast; Dystrophic epidermolysis bullosa; Genetic disease
• ISSN: 0022-202X; 1523-1747
• DOI: 10.1111/1523-1747.ep12455843

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.