RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development.
Elena DellambraSonia CordiscoFrancesca Delle MonacheSergio BondanzaMassimo TesonEzio Maria NicodemiBiagio DidonaAngelo Giuseppe CondorelliGiovanna CamerinoDaniele CastigliaLiliana GuerraPublished in: Orphanet journal of rare diseases (2022)
Altogether our data indicate that the absence of RSPO1 in patients with 46XX disorder of sexual development affects the skin microenvironment and epidermal integrity, thus contributing to the risk of SCC tumorigenesis in palmoplantar regions exposed to major frictional stresses.