Pitzalis G, Bonamico M, Mariani P, Palmieri G, Ceccamea A, Signoretti A
Minerva Pediatr. 1989 Apr;41(4):193-7.
Cutis laxa (generalized elastolysis) is a rare systemic disorder of connective tissue, whose elastic fibers appear fragmented and disorganized. The present study reports an undescribed form of cutis laxa in an infant male with loose and inelastic skin, osteoporosis, pulmonary emphysema and dislocation of the hip. The clinical features and the inheritance patterns of the various forms of cutis laxa are also discussed.
皮肤松弛症(全身性弹性组织离解)是一种罕见的结缔组织系统性疾病,其弹性纤维呈现出断裂和紊乱的状态。本研究报告了一名患有皮肤松弛、皮肤无弹性、骨质疏松、肺气肿和髋关节脱位的男婴中一种未被描述过的皮肤松弛症形式。文中还讨论了各种形式皮肤松弛症的临床特征和遗传模式。