Kero M, Palotie A, Peltonen L
Br J Dermatol. 1984 Feb;110(2):177-84. doi: 10.1111/j.1365-2133.1984.tb07464.x.
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.
对三名患有罕见大疱性表皮松解症的患者皮肤成纤维细胞培养物中的胶原酶活性在培养基进行蛋白水解激活前后进行了测定。其中两名患者患有隐性营养不良型疾病（REBD），该疾病通常与异常的胶原酶活性相关。另一名患者患有萎缩性轻型疾病（REBA），此前尚未发现该疾病与胶原蛋白代谢缺陷有关。然而，在所有三例中均发现胶原酶活性有类似增加。大疱性表皮松解症成纤维细胞的总胶原蛋白生成也有所增强，是对照细胞系的两到五倍，并且在两个大疱性表皮松解症细胞系中，胶原蛋白生物合成的细胞内羟化酶水平更高。这些变化反映了在过量游离胶原酶活性导致降解增加之后，胶原蛋白合成的代偿性增加。对一名REBD患者进行为期9个月的苯妥英治疗改善了她的病情。
