Ophthalmic Review on Neonatal Harlequin Ichthyosis

Cureus. 2023 Aug 29;15(8):e44320. doi: 10.7759/cureus.44320. eCollection 2023 Aug.

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.

Keywords: congenital ichthyosis; harlequin ichthyosis; ichthyosis; plate-like hyperkeratosis; rare congenital anomaly.

Publication types

  • Case Reports