Yeoh Boon Juan, Nanthini Selvaraja
Ophthalmology, University of Malaya, Kuala Lumpur, MYS.
Ophthalmology, Hospital Raja Permaisuri Bainun, Ipoh, MYS.
Cureus. 2023 Aug 29;15(8):e44320. doi: 10.7759/cureus.44320. eCollection 2023 Aug.
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.
丑角样鱼鳞病是一种罕见的先天性常染色体隐性疾病,可导致角化过度或板层状角化病。角化过度影响上下眼睑,导致眼睑缺陷。睑裂闭合不全和持续性干眼会导致角膜干燥,可能引发诸如睑外翻、角膜溃疡、角膜穿孔等并发症。丑角样鱼鳞病需要定期进行眼部检查以预防眼部并发症。在这个孩子身上,他出生时就有眼睑缺陷,但后续的治疗预防了上述并发症。从眼科角度来看,这是一例新生儿丑角样鱼鳞病病例。