Abstract：
Megaconial congenital muscular dystrophy (MCMD) is a rare autosomal-recessive multisystem disorder characterized by delayed motor development, intellectual disability, and skin involvement. We report a patient with MCMD who had diffuse ichthyosis-like scaling, and successfully responded to ustekinumab.
摘要：
巨先天性肌营养不良（MCMD）是一种罕见的常染色体隐性遗传多系统疾病，其特征是运动发育延迟，智力残疾,和皮肤受累。我们报告了一位MCMD患者，他有弥漫性鱼鳞病样鳞屑，并成功地对ustekinumab作出反应。
