A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract

摘要

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.