Severe Ectropion in Harlequin Ichthyosis Managed Nonsurgical: Case Report

Abstract

Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, caused by pathogenic variants in ABCA12. Ocular manifestations, particularly cicatrical ectropion and exposure keratopathy, may threaten corneal integrity. Reports detailing successful nonsurgical ophthalmic management remain scarce.

A full-term female neonate presented at birth with generalized hyperkeratosis, skin fissuring, severe bilateral ectropion, and superficial punctate keratopathy. Genetic testing confirmed biallelic ABCA12 variants. Systemic acitretin therapy was initiated, complemented by topical tazarotene and emollients. Ocular management consisted of daily eyelid massage, protective moisture chambers, preservative-free artificial tears, and vitamin A-based ointment.

Progressive regression of ectropion and complete resolution of keratopathy were observed. At 18 months, the patient showed a stable skin condition, clear corneas, and normal visual development, without surgical intervention.

Early multidisciplinary medical management can effectively stabilize ocular and systemic manifestations of HI, avoiding high-risk reconstructive surgery and preserving long-term visual outcomes.