Taïeb A, Aumailley M, Courouge-Dorcier D, Rabaud M, Bioulac-Sage P, Surlève-Bazeille J E, Maleville J
Arch Dermatol Res. 1987;279(5):308-14. doi: 10.1007/BF00431223.
A case of congenital cutis laxa (CCL) of unclear mode of inheritance associated with multiple pulmonary artery branch stenosis was extensively investigated to assess possible correlations between clinical, ultrastructural, and biochemical features. Light microscopy revealed that elastic fibers were absent in the papillary dermis, while hypoplastic elsewhere. Transmission electron microscopy showed a poor elastin matrix content in some elastic fibers, variable diameters of collagen fibrils, and abundant glycogen granules in most dermal cells. Measurement of collagen fibril diameters, using an image analyzer, was carried out in the patient and two age- and site-matched controls. A bimodal distribution was found in the upper reticular dermis of the patient. In vitro analysis of collagen in skin fibroblast cultures of the patient showed increased collagen synthesis with a balanced production of type I and type III procollagens. Our study confirms that CCL represents a disorder both of collagen and elastic connective tissue.
对一例遗传方式不明的先天性皮肤松弛症（CCL）合并多发性肺动脉分支狭窄患者进行了广泛研究，以评估临床、超微结构和生化特征之间可能存在的相关性。光镜检查显示，乳头真皮层缺乏弹性纤维，而其他部位弹性纤维发育不全。透射电子显微镜显示，一些弹性纤维中的弹性蛋白基质含量低，胶原纤维直径可变，大多数真皮细胞中糖原颗粒丰富。使用图像分析仪对患者以及两名年龄和部位匹配的对照者的胶原纤维直径进行了测量。在患者的上网状真皮层中发现了双峰分布。对患者皮肤成纤维细胞培养物中的胶原蛋白进行的体外分析表明，胶原蛋白合成增加，I型和III型前胶原产生平衡。我们的研究证实，CCL是一种涉及胶原和弹性结缔组织的疾病。
