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Harlequin ichthyosis

Harlequin ichthyosis is a very rare and severe genetic disorder that is part of a group of skin conditions called ichthyoses. It is characterized by thick, hard plates of skin that cover the body and severe scaling. This condition is caused by mutations in the ABCA12 gene, which is crucial for the development of the lipid barrier in the skin. This barrier helps to keep out bacteria and other external dangers, and retains moisture and body fluids.

Infants with harlequin ichthyosis are born with hard, thick plates of skin, separated by deep cracks. These abnormalities affect the shape of the eyelids, nose, mouth, and ears, and restrict movement of the arms and legs. Restricted movement can lead to difficulties with breathing and feeding.

Management of harlequin ichthyosis is challenging and requires multidisciplinary care. Treatment may include retinoids to help slow the overproduction of skin cells, and antibiotics to prevent infections. Regular intensive moisturizing and exfoliation are also critical to help manage scaling and promote more flexible skin.

Despite the difficulties associated with this condition, advances in neonatal care and dermatological treatments have significantly improved outcomes and survival rates for affected individuals.