Neonatal ectropion in Harlequin ichthyosis

Описание: Ectropion is a common ocular manifestation in neonates with harlequin ichthyosis, resulting from the tension exerted by thick, hyperkeratotic skin plaques on the eyelids. The mechanical pull from these plaques leads to outward turning of the eyelids, often resulting in conjunctival exposure. The chronic eversion increases the risk of ocular surface desiccation, but it typically does not require invasive intervention. This congenital ectropion is often present at birth and is a direct consequence of the underlying dermatologic condition rather than an isolated ophthalmologic defect.

The primary concern in neonates with ectropion is corneal exposure and the subsequent risk of keratitis or abrasion due to insufficient eyelid protection. Preventing desiccation of the ocular surface is necessary to reduce the likelihood of vision-threatening complications. Frequent application of artificial tears and ocular lubricants is the mainstay of initial management, ensuring continuous moisture of the conjunctiva and cornea. Maintaining adequate lubrication is critical in the neonatal period to protect the developing eye from preventable injury.

Most cases of ectropion associated with harlequin ichthyosis improve as the infant ages and the skin gradually becomes less taut. An ophthalmology consultation is typically initiated during the NICU stay to guide supportive management and monitor for complications. Long-term follow-up is necessary to assess resolution and address any persistent issues. Surgical correction is rarely indicated in the neonatal period because the condition often stabilizes without invasive intervention.

Topical dexamethasone and tobramycin are not appropriate, as there is no evidence of infection or significant inflammation that warrants this combination. Surgery is not indicated immediately because congenital ectropion in harlequin ichthyosis generally improves with conservative management. Manually retracting the eyelid and applying an eye shield is contraindicated, as forced manipulation may exacerbate ocular injury and does not address the underlying cause. The preferred management focuses on lubrication to prevent corneal drying and injury.