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 dia

SUBMITTER: Turyasiima M 

PROVIDER: S-EPMC11774574 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature