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Filaggrinopathies—Flg/Flg2: Diagnostic Complexities and Immunotherapy Publisher



Nouri Z1 ; Biglari S1, 2 ; Tabatabaiefar MA2 ; Vahidnezhad F3 ; Hozhabrpour A4 ; March ME1 ; Margolis DJ5 ; Gudjonsson JE6 ; Hakonarson H1, 7, 8 ; Vahidnezhad H1, 5, 7, 8
Authors

Source: Journal of Investigative Dermatology Published:2025


Abstract

FLG and FLG2 proteins are expressed in the outer layers of the epidermis, where they are vital in epidermal differentiation and skin barrier formation. Filaggrinopathies involving dysfunctions in these proteins are associated with a spectrum of phenotypic presentations, from monogenic to multifactorial conditions. This review examines biosynthesis and function of FLG and FLG2 proteins and evaluates their molecular pathogenesis in filaggrinopathies. Moreover, genotype–phenotype correlations are assessed, emphasizing genetic diagnosis complexities and diverse immune dysregulation patterns. Finally, it examines ongoing immunotherapeutic approaches by targeting different cytokines as promising treatment options for filaggrinopathies management. © 2024 The Authors