Van Asbeck Ellyze, Wolthuis David F G J, Mohamed Miski, Wevers Ron A, Korenke Cristoph G, Gardeitchik Thatjana, Morava Eva
Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland, Netherlands; Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, Louisiana.
Am J Med Genet A. 2014 Apr;164A(4):1049-55. doi: 10.1002/ajmg.a.36392. Epub 2014 Jan 23.
Cutis laxa (CL) is a connective tissue disorder, characterized by loose, inelastic, sagging skin. Both acquired and inherited (dominant, recessive, and X-linked) forms exist. Here, we describe a new phenotype, which overlaps with other known CL syndromes. Our patient has a unique combination of features in association with sagging, inelastic, wrinkled skin, including cataract, severe cardiomyopathy, abnormal fat distribution, improvement of skin-wrinkling with age, and white matter abnormalities but no significant histologic collagen or elastin abnormalities. Mutation analysis of known CL genes was negative. We suggest that our patient has a novel syndrome, with the main features of CL, intellectual disability, abnormal fat distribution, cardiomyopathy, and cataract.
皮肤松弛症（CL）是一种结缔组织疾病，其特征为皮肤松弛、缺乏弹性且下垂。存在获得性和遗传性（显性、隐性和X连锁）两种形式。在此，我们描述一种新的表型，它与其他已知的CL综合征有重叠。我们的患者具有与皮肤下垂、缺乏弹性、起皱相关的独特特征组合，包括白内障、严重心肌病、脂肪分布异常、皮肤皱纹随年龄改善以及白质异常，但组织学上未发现明显的胶原蛋白或弹性蛋白异常。对已知CL基因的突变分析为阴性。我们认为我们的患者患有一种新型综合征，其主要特征为CL、智力残疾、脂肪分布异常、心肌病和白内障。
