PDF(Pubmed)
Abstract：
Harlequin ichthyosis is a rare congenital autosomal recessive disorder that causes hyperkeratosis or plate-like keratosis. Hyperkeratosis affects both upper and lower eyelids and causes defective eyelids. Lagophthalmos and persistent dry eye will cause desiccation of the cornea, possibly leading to complications such as ectropion, cornea ulceration, corneal perforation, etc. Harlequin ichthyosis requires regular ocular review to prevent ocular complications. In this child, he was born with defective eyelids, but subsequent management prevented the complications mentioned. This is a case of harlequin ichthyosis in a neonate from an ophthalmological point of view.
摘要：
丑角鱼鳞病是一种罕见的先天性常染色体隐性遗传疾病，可引起角化过度或板状角化病。角化过度会影响上眼睑和下眼睑，并导致眼睑缺陷。拉眼和持续干眼会导致角膜干燥，可能会导致外翻等并发症，角膜溃疡，角膜穿孔,等。丑角鱼鳞病需要定期眼部检查以防止眼部并发症。在这个孩子身上,他出生时眼睑有缺陷，但随后的治疗预防了上述并发症.从眼科的角度来看，这是新生儿的丑角鱼鳞病。
