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ISSN: 3048-5193
Ichthyosis encompasses a group of rare and heterogeneous genetic skin disorders characterized by defective epidermal barrier function, resulting in various clinical presentations of hyperkeratosis and scaling. In recent years, significant advances have been made in understanding the molecular genetics and pathogenesis of ichthyosis. The pathogenesis of ichthyosis is complex and varies depending on the underlying genetic defect. Over 20 genes have been identified as causing ichthyosis, and many more are likely to be discovered in the future. Recent research has unveiled the complex pathogenic mechanisms contributing to ichthyosis, from defects in epidermal barrier function to immune system involvement. This increased understanding is driving the pursuit of innovative treatment modalities, including biologics, small molecular inhibitors, and gene therapy, potentially revolutionizing ichthyosis management. This review provides a comprehensive understanding of the molecular genetics and pathogenesis of ichthyosis, a group of rare skin diseases characterized by abnormal skin barrier function and a range of clinical manifestations. It underscores the importance of recent genetic discoveries in shedding light on the underlying causes of various forms of ichthyosis and the potential for nanotechnology-based formulations to enhance therapeutic efficacy in managing these challenging conditions.