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。