Harlequin Ichthyosis: Navigating the Challenges of a Rare Case

Abstract

Ichthyosis, derived from the Greek word "ichthys" meaning fish, encompasses various skin disorders characterized by dry, scaly, and thickened skin, often inherited through autosomal or X-linked modes. This case report discusses a rare and severe form known as Harlequin ichthyosis, presenting a second gravida woman with consanguinity history who delivered a male baby with characteristic features including porcelain-like skin, ectropion, eclabion, and flexion deformities. Despite supportive measures, the baby died shortly after birth. Harlequin ichthyosis, with an incidence of 1 in 300,000 births, arises from mutations in the ABCA12 gene, affecting lipid exocytosis and desquamation. Antenatal diagnosis is feasible through ultrasound findings and genetic testing, with a grim prognosis and limited survival beyond infancy. This report underscores the challenges in managing such conditions and highlights the importance of ongoing research for better understanding and management.

Keywords

• harlequin ichthyosis
• congenital ichthyosiform erythroderma
• autosomal
• abca12 gene
• antenatal diagnosis