Harlequin Ichthyosis
Harlequin Ichthyosis is a rare genetic skin disorder characterized by thick, hard skin that forms large, diamond-shaped plates. These plates are separated by deep cracks, which can lead to severe complications. The condition is caused by mutations in the ABCA12 gene, affecting the skin's ability to retain moisture and protect against infections.
Individuals with Harlequin Ichthyosis often require intensive medical care at birth, including hydration and temperature regulation. While the condition is lifelong, advancements in treatment have improved the quality of life for many affected individuals. Early intervention and ongoing management are crucial for better outcomes.