Division of Dermatology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Queen's University School of Medicine, Kingston, Ontario, Canada.
Pediatr Dermatol. 2023 Jul-Aug;40(4):710-712. doi: 10.1111/pde.15255. Epub 2023 Jan 19.
Congenital ichthyosis is a genodermatosis characterized by abnormal epidermal differentiation. The neonatal period is critical for patients with ichthyosis because of the risk for significant comorbidities and associated mortality, with most complications resulting from impaired barrier function. Early recognition can significantly alter the clinical course of this rare disease. Here we present a neonate with ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome (ILVASC), a rare inherited disease, to highlight how an interdisciplinary approach led to prompt assessment, confirmation of a genetic diagnosis and management of potential complications.
先天性鱼鳞病是一种以表皮分化异常为特征的遗传性皮肤病。新生儿期是鱼鳞病患者的关键时期，因为存在严重合并症和相关死亡率的风险，大多数并发症是由于屏障功能受损所致。早期识别可以显著改变这种罕见疾病的临床病程。在这里，我们介绍了一例患有鱼鳞病、白细胞空泡、脱发和硬化性胆管炎综合征（ILVASC）的新生儿，这是一种罕见的遗传性疾病，旨在强调多学科方法如何导致及时评估、遗传诊断的确认以及潜在并发症的管理。
