Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida, USA.
Division of Genetics, Departments of Pathology and Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.
Pediatr Dermatol. 2022 Jan;39(1):151-152. doi: 10.1111/pde.14865. Epub 2021 Nov 17.
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder of cholesterol synthesis characterized by unilateral ichthyosiform dermatitis with ipsilateral limb hypoplasia. Recently, pathogenesis-based treatment has demonstrated improvement of skin lesions with statins by decreasing formation of cholesterol intermediates through inhibition of cholesterol synthesis. We report a 10-month-old girl who presented with unilateral scaly ptychotropic plaques, who experienced rapid, near-complete clearance with topical 5% simvastatin monotherapy twice daily.
先天性半边发育不良伴鱼鳞红皮病和肢体缺陷（CHILD）综合征是一种罕见的 X 连锁显性胆固醇合成紊乱疾病，其特征为单侧鱼鳞红皮病伴同侧肢体发育不良。最近，基于发病机制的治疗方法通过抑制胆固醇合成减少胆固醇中间产物的形成，用他汀类药物治疗显示出改善皮肤病变的效果。我们报告了一例 10 个月大的女婴，她表现为单侧鳞屑性偏侧斑块，每日两次局部使用 5%辛伐他汀单药治疗后迅速、近乎完全消退。
