Harlequin Ichthyosis in a Neonate: Clinical Course and Biochemical Insights in the Absence of Prenatal Diagnosis

Introduction: Harlequin ichthyosis (HI) is a rare, life-threatening variant of autosomal recessive congenital ichthyosis caused by mutations in the ABCA12 gene, resulting in defective epidermal lipid transport and profound disruption of the skin barrier. HI is difficult to diagnose prenatally in resource-limited settings owing to the lack of advanced genetic screening and high-resolution imaging. Objectives: To describe the clinical and biochemical course of a neonate with HI diagnosed only on postnatal features, in the absence of prenatal suspicion. Methods: We report a term neonate with no prenatal suspicion of HI who presented postnatally with classic features of thick plate-like hyperkeratotic scales, deep fissures, and characteristic facial features. The infant was managed with supportive therapy including fluid management, electrolyte repletion, and empirical antibiotics, and the clinical and laboratory findings were reviewed. Results: Despite supportive therapy, the infant developed severe electrolyte imbalances, metabolic acidosis, and multi-organ dysfunction. Laboratory investigations revealed significant biochemical derangement, and the clinical course was complicated by overwhelming sepsis leading to death within six hours of life. Conclusions: This case illustrates the formidable clinical and biochemical challenges in the management of HI in the absence of a prenatal diagnosis and underscores the need for increased clinical vigilance, early laboratory surveillance, and improved access to genetic counselling and diagnostic modalities in resource-poor healthcare settings.