Bauer E A, Santa-Cruz D J, Eisen A Z
J Invest Dermatol. 1981 Feb;76(2):119-25. doi: 10.1111/1523-1747.ep12525454.
Tissue and cultured fibroblasts derived from one patient with the classical findings of lipoid proteinosis have been used to examine pathologic mechanisms in the disease. Ultrastructural examination of the skin revealed not only extracellular deposits of finely granular, moderately electron dense material, but in addition the dermal fibroblasts characteristically demonstrated marked cytoplasmic vacuolization. Phase contrast microscopy of the cultured skin fibroblasts also showed strikingly abnormal cells with many inclusions, which by electron microscopy were delimited by a single membrane. Membranous lamellar material was also increased in these cells. Biochemical analysis of the fibroblasts revealed a 3- to 4-fold elevation in intracellular hexuronic acid. These morphologic and biochemical findings suggest certain similarities with known storage diseases and support the postulate that lipoid proteinosis may represent a lysosomal storage disease.
从一名患有典型类脂蛋白沉积症的患者身上获取的组织和培养的成纤维细胞，已被用于研究该疾病的病理机制。对皮肤的超微结构检查不仅发现了细胞外有细颗粒状、中等电子密度物质的沉积，而且真皮成纤维细胞的特征是细胞质明显空泡化。对培养的皮肤成纤维细胞进行相差显微镜检查也发现，许多细胞含有大量内含物，呈现出明显异常，通过电子显微镜观察，这些内含物由单层膜界定。这些细胞中的膜状层状物质也有所增加。对成纤维细胞的生化分析显示，细胞内己糖醛酸升高了3至4倍。这些形态学和生化发现表明，与已知的贮积病存在某些相似之处，并支持类脂蛋白沉积症可能是一种溶酶体贮积病的假设。
