Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber assembly and homeostasis, and the known underlying gene defects affect different extracellular matrix proteins, intracellular trafficking, or cellular metabolism. Due to the underlying clinical and molecular heterogeneity, the diagnostic work‐up of CL patients is often challenging. In this review, we provide a practical approach to the broad differential diagnosis of CL syndromes, provide an overview of the molecular pathogenesis of the different subtypes, and suggest general management guidelines.

中文翻译：

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皮肤松弛症：临床特征和病理生理学的综合概述

皮肤松弛症 (CL) 综合征包括一组罕见的多系统疾病，它们共享松弛的多余皮肤褶皱作为标志性临床特征。CL 是由弹性纤维组装和体内平衡受损造成的，已知的潜在基因缺陷会影响不同的细胞外基质蛋白、细胞内运输或细胞代谢。由于潜在的临床和分子异质性，CL 患者的诊断检查通常具有挑战性。在这篇综述中，我们提供了一种对 CL 综合征进行广泛鉴别诊断的实用方法，概述了不同亚型的分子发病机制，并提出了一般管理指南。