Abstract
ABSTRACT
Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the
ABCA12
gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities. We describe a preterm male infant, who presented with classical features of HI, including ectropion, eclabium, and digital contractures with distal digital ischemia. He was managed with intensive supportive care and started on oral acitretin (0.5 mg/kg/day) on day five of life, resulting in marked improvement and resolution of distal digital ischemia within 1 week, successfully avoiding surgical intervention. At 1 year of age, he remains clinically stable on maintenance acitretin, exhibiting appropriate growth and meeting developmental milestones.