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rare genetic disorder causing thick, scaly skin and severe complications

Harlequin Ichthyosis is a rare genetic disorder characterized by thick, scaly skin that forms large, diamond-shaped plates separated by deep cracks. This condition is caused by mutations in the ABCA12 gene, which is crucial for the normal development of the skin barrier. Affected newborns often face severe complications, including dehydration, infections, and respiratory difficulties, requiring intensive medical care.

Related Terms

• Ichthyosis
• Congenital Ichthyosis
• Lamellar Ichthyosis