Germline and somatic second-hit changes in porokeratosis: comprehensive variant spectrum and genotype–phenotype correlation analysis

Our large cohort study expands the genetic variant spectrum of porokeratosis, clarifies gene subtype-specific somatic 'second-hit' mechanisms and establishes clinically relevant genotype-phenotype correlations. These findings enable porokeratosis subtyping guided by genetic testing and provide a foundation for developing molecularly integrated scoring systems to refine risk-stratified management.