LEKTI: Netherton Syndrome and Atopic Dermatitis

In 1958, Netherton described the bamboo-like deformity in the fragile hairs in a girl with erythematous scaly dermatitis.[2] In 1985, Greene and Muller emphasized the triad of Netherton syndrome: ichthyosis, atopy, and trichorrhexis invaginata.[3] In 2000, Chavanas et al. identified eleven different mutations in SPINK5 in 13 families with Netherton syndrome.[4] Their finding disclosed a critical role of the serine protease inhibitor lymphoepithelial Kazal-type related inhibitor (LEKTI) in epidermal barrier function and immunity, suggesting a sequential pathway for high serum IgE levels and atopic manifestations.[4] In 2005, Descargues et al. found that LEKTI is a key regulator of epidermal protease activity and degradation of desmoglein 1 as the primary pathogenic event.[5] In 2010, Sales showed that a pathogenic matriptase-pro-kallikrein pathway could operate in a variety of physiological and pathological processes.[6] Thus, the study of Netherton syndrome contributes not only elucidation of pathogenesis of the disorder itself but also understanding of structure of the epidermis and immune and inflammatory processes including atopic dermatitis.