Background: Autosomal recessive cutis laxa type IC (ARCL1C) is characterized by cutis laxa accompanied by pulmonary, gastrointestinal, urinary, musculoskeletal involvement caused by biallelic mutations in latent transforming growth factor-beta binding protein 4 (LTBP4) gene. The overall prognosis is poor, and most patients die in infancy because of severe pulmonary emphysema (PE).

中文翻译：

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常染色体隐性皮肤松弛型 IC 患者的肺部表现概述

背景：常染色体隐性遗传性皮肤松弛型 IC (ARCL1C) 的特征是皮肤松弛伴有肺、胃肠道、泌尿系统、肌肉骨骼受累，这是由潜在转化生长因子-β 结合蛋白 4 ( LTBP4 ) 基因的双等位基因突变引起的。总体预后较差，大多数患者死于严重肺气肿（PE）。