Clinical Diagnosis and Management Challenges of Harlequin Ichthyosis in a Preterm Neonate: A Case Report From Uganda

Abstract

Introduction: Harlequin ichthyosis is a rare autosomal recessive genetic disorder resulting from mutations in the ABCA12 gene. It is marked by distinctive skin abnormalities, including armor-like thickened scales separated by deep fissures. This condition is infrequently reported in the African population. Clinical Findings: This report presents the case of a preterm neonate, born at 28 weeks of gestation, exhibiting dysmorphic features and severe generalized hyperkeratosis. The defining skin abnormalities included deep fissures across the head and trunk, bilateral eyelid ectropion, eclabium, underdeveloped auricles, and limbs enveloped in thick hyperkeratotic plaques with constricting bands and hypoplastic digits. Diagnosis, Interventions, and Outcomes: The diagnosis of harlequin ichthyosis was established based on the characteristic clinical presentation. Supportive care included routine neonatal management and conservative treatment for prematurity-related respiratory distress syndrome. However, specific therapies, such as systemic retinoids, could not be administered due to their unavailability in the clinical setting. Unfortunately, the neonate passed away on the fifth day of life due to respiratory complications. Conclusion: Harlequin ichthyosis remains associated with a high mortality rate, especially in resource-limited settings. Contributing factors include inadequate prenatal diagnostic services, restricted access to essential treatments, and insufficient neonatal care infrastructure, all of which exacerbate poor outcomes in developing countries.