Dissecting the Heterogeneity of Skin Gene Expression Patterns in Systemic Sclerosis

The study examined the heterogeneity of gene expression patterns in the skin of patients with systemic sclerosis (SSc) by analyzing skin biopsy specimens from 61 SSc patients and 36 control subjects. Researchers identified 2,754 differentially expressed transcripts and found two prominent transcriptomes: keratin and fibroinflammatory signatures. The keratin signature was linked to shorter disease duration and interstitial lung disease, while the fibroinflammatory signature was associated with diffuse cutaneous involvement and higher skin scores. A subgroup of patients with longer disease duration exhibited a normal-like transcript pattern. The study highlighted significant heterogeneity in cell type-specific signature scores, with increased scores for fibroblasts, microvascular cells, macrophages, and dendritic cells. The findings suggested that these expression profiles could help stratify patients for targeted therapies or predict responses to immunosuppression.