Harlequin Ichthyosis in a Term Neonate with Consanguineous Parents: A Fatal Case Report

Abstract

Background: Harlequin Ichthyosis (HI) is a rare, severe autosomal recessive keratinization disorder caused by mutations in the lipid-transporter gene ABCA12. The mutation leads to defective lipid transport, impaired ceramide formation, and failure of epidermal barrier development, predisposing neonates to infection, dehydration, and respiratory compromise. Case Presentation: A 38–39-week gestational age male neonate, born via lower-segment cesarean section to second-degree consanguineous parents, presented at birth with generalized rigid hyperkeratotic yellow skin plates separated by deep erythematous fissures, bilateral ectropion, eclabium, malformed ears, and limb contractures. Supportive care, including emollients, sterile non-adherent dressings with topical antibiotic over fissures, and graded enteral feeding, was provided. On day 3, the neonate developed progressive respiratory insufficiency with oxygen desaturation, requiring endotracheal intubation; however, he succumbed to death within hours due to respiratory failure. Postmortem genetic sequencing could not be performed. Conclusion: This case highlights the fulminant clinical course of severe HI phenotype, persistent mortality risk in resource-limited settings, and the importance of early clinical suspicion, multidisciplinary supportive care, informed consent-based photo documentation, and parental genetic counseling.