Lekti: Netherton Syndrome And Atopic Dermatitis

Netherton syndrome, a rare autosomal recessive disorder, was characterized by ichthyosis, bamboo hair, and severe atopic manifestations due to mutations in the SPINK5 gene, which encodes the serine protease inhibitor LEKTI. This study highlighted the critical role of LEKTI in maintaining epidermal barrier function and regulating immune responses. Mutations in SPINK5 were linked to atopic dermatitis, with increased protease activity leading to skin barrier defects and heightened allergen absorption. Genome-wide association studies identified various genetic loci associated with atopic dermatitis, emphasizing its complex genetic nature. The research underscored the importance of protease inhibitors like LEKTI in controlling protease activity, with implications for understanding and treating skin disorders like Netherton syndrome and atopic dermatitis.