SOX2 and familial reactive perforating collagenosis: Pseudobulk RNA expression in RPC tumors presented with significantly upregulated pathways such as “Cilium movement” and “Axoneme assembly” (Supplementary Fig. 3a), while significantly upregulated genes in RPC tumors, included genes promoting stem cell renewal and inhibiting neuronal differentiation, such as Foxo1, Gli230, Sox-2 and Aldh1a1, or the ABC transporter Abcc3 (Fig. 2e).