Management of ocular manifestations of harlequin ichthyosis in the perinatal period

Abstract

Harlequin Ichthyosis (HI) is a severe and rare genetic disorder caused by mutations on the ABCA12 gene on chromosome 2 (2q34). Dysfunction of this gene, involved in the regulation of protein synthesis required for skin barrier function, leads to extreme hyperkeratosis. Patients present with thick plate-like scales separated by deep cracks (fissured hyperkeratosis) leading to tightness of the skin around the eyes, mouth, ears, chest, abdomen and extremities with subsequent high morbidity and mortality during the neonatal period. Cicatricial ectropion may result in exposure keratopathy and severe ocular surface pathology. There is limited literature describing management of this ocular manifestation.