Minimally invasive 1 mm skin biopsies capture regional transcriptomic heterogeneity in vitiligo

Despite therapeutic advances, variable efficacy and frequent relapse highlight the need for deeper insight into its pathophysiology. Conventional 3–5 mm skin biopsies are invasive and require suturing, limiting their use in clinical and translational research.

Here, we demonstrate that minimally invasive 1 mm punch biopsies yield adequate RNA compatible with bulk transcriptomic profiling and enable comprehensive molecular characterization of vitiligo skin. RNA sequencing of 105 biopsies spanning lesional, perilesional, non-lesional, and control skin revealed distinct region-specific transcriptional signatures involving interferon signaling, immune activation, and metabolic reprogramming.