Harlequin Ichthyosis: A Rare Genetic Disease Giving Babies Thick 'Scales'

Harlequin ichthyosis is a severe inherited skin disorder caused by mutations in the ABCA12 gene. This condition leads to the transport of fats within the skin being disrupted, resulting in thick, plate-like scales covering the body, accompanied by deep fissures. Babies born with this disease often display features such as tightly stretched skin, fissures, and distinctive facial features like a flat nose and fused ears. The condition can impair breathing, feeding, and temperature regulation, making it life-threatening.

Although there is no cure, intensive neonatal care, skin management, and medication like retinoids may improve survival chances. The disease occurs in approximately 1 in 300,000 live births globally and affects both genders equally without racial bias. It is inherited in an autosomal recessive pattern, meaning infants must inherit two copies of the mutated gene—one from each parent—to develop symptoms. Care involves ongoing medical attention to manage symptoms and prevent complications.