Jung K, Ueberham U, Hausser I, Bosler K, John B, Linse R
Clinic of Dermatology, Klinikum Erfurt, Germany.
Acta Derm Venereol. 1996 Jul;76(4):298-301. doi: 10.2340/0001555576298301.
Congenital cutis laxa (CCL) is a rare, genetically heterogeneous connective tissue disorder, manifested by loose, hanging skin, giving the appearance of premature aging. We report a 6-year-old female child with autosomal recessive CCL type III, to assess possible correlations between clinical, ultrastructural, cellular and biochemical features. Morphological aberrations of the elastic and collagen tissue, increased collagen I mRNA expression associated with increased protein synthesis and increased collagenase gene expression of the cutis laxa fibroblasts could be established. Our results suggest that CCL is not only a disease of the elastic fibers of the connective tissue but also of the collagen fibers, with a central role of the fibroblast.
先天性皮肤松弛症（CCL）是一种罕见的、具有遗传异质性的结缔组织疾病，表现为皮肤松弛、下垂，呈现出早衰的外观。我们报告了一名患有常染色体隐性III型CCL的6岁女童，以评估临床、超微结构、细胞和生化特征之间可能存在的相关性。可以确定弹性和胶原组织的形态学异常、与蛋白质合成增加相关的I型胶原mRNA表达增加以及皮肤松弛症成纤维细胞的胶原酶基因表达增加。我们的结果表明，CCL不仅是一种结缔组织弹性纤维疾病，也是一种胶原纤维疾病，其中成纤维细胞起核心作用。
