Harlequin ichthyosis is a severe congenital skin disorder causing thick, armour-like scales and ectropion at birth. Eye complications arise mainly from exposure and dryness.
Ocular issues
The tight skin pulls the lids away from the globe.
- Marked ectropion and lagophthalmos leading to exposure keratopathy
- Risk of corneal ulceration, scarring, and infection
- Difficulty closing eyes fully even during sleep
- Underlying ABCA12 gene mutations
Management
Intensive early care can preserve vision.
- Frequent lubricating drops and ointment to protect the surface
- Moisture chambers, bandage lenses, or temporary tarsorrhaphy
- Dermatology-guided systemic retinoids and skin care
- Ongoing ophthalmic follow-up for scarring and refractive errors
