TLDR LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
The document discussed the role of LEKTI in Netherton syndrome and its implications for atopic dermatitis. Netherton syndrome, characterized by ichthyosis, atopy, and trichorrhexis invaginata, was linked to mutations in the SPINK5 gene, which affected the serine protease inhibitor LEKTI. This discovery highlighted LEKTI's importance in epidermal barrier function and immunity, influencing high serum IgE levels and atopic symptoms. Further research identified LEKTI as a regulator of epidermal protease activity, with implications for the degradation of desmoglein 1 and the matriptase-pro-kallikrein pathway. These findings advanced the understanding of epidermal structure and immune processes, contributing to insights into atopic dermatitis.
717 citations
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June 2010 in “Nature” Alopecia areata involves both innate and adaptive immunity, with specific genes linked to the disease.
372 citations
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December 2004 in “Nature Genetics”
10 citations
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July 2015 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
36 citations
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August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair disorders without pulling out hair.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
147 citations
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January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.