Collagen metabolism in two rare forms of epidermolysis bullosa

SUMMARY The collagenase activity in skin fibroblast cultures from three patients with rare forms of epidermolysis bullosa was assayed before and after proteolytic activation of the medium. Two of the patients had the recessive dystrophic form of the disease (REBD), which is generally associated with abnormal collagenase activity. The other patient had an atrophic mitis form of the disease (REBA), which has not previously been associated with defective collagen metabolism. However, a similar increase in collagenase activity was found in all three cases. The total collagen production of EB fibroblasts was also enhanced, being two to five times that of control cell lines, and the intracellular hydroxylases of collagen biosynthesis were higher in the case of two EB-cell lines. These changes reflect the compensatory increase in collagen synthesis which follows the increased degradation caused by excessive free collagenase activity. Diphenylhydantoin treatment of one REBD patient for 9 months improved her condition.