KRT83 encodes keratin 83, a type II structural protein essential for hair and skin integrity. It functions as a component of intermediate filaments, organizing with binding partners to form the cytoskeletal framework of hair follicles and epidermis 1. KRT83 is expressed in inner root sheath differentiation genes and contributes to follicular structural integrity 2. Mutations in KRT83 cause distinct phenotypes depending on mutation type. Heterozygous missense variants cause autosomal dominant monilethrix, a hair disorder characterized by beaded hair shafts and increased fragility 34. The condition results from altered protein localization and disrupted filament organization rather than loss of expression 1. Conversely, homozygous loss-of-function mutations cause autosomal recessive progressive symmetric erythrokeratoderma (PSEK), featuring hyperkeratotic plaques and palmoplantar involvement 1. KRT83 variants are also associated with erythrokeratodermia variabilis et progressiva (EKVP), a rare hereditary skin disorder with progressive hyperkeratotic plaques and erythematous patches 56. Clinically, KRT83 emerges as a biomarker in alopecia areata pathogenesis, with reduced expression correlating with disease severity and suggesting impaired follicular structural integrity 72. These findings indicate KRT83 mutations have dose-dependent and mutation-type-dependent effects on hair and skin phenotypes.