Multiple hereditary infundibolocystic basal cell carcinoma: report of a sporadic case with a novel pathogenic germline variant in SUFU.

Dear Editor, Germline loss-of-function variants in SUFU (MIM*607035), a component of the Hedgehog (HH) signaling pathway, have been associated with multiple hereditary infundibulocystic basal cell carcinoma (iBCC, MIM#604451). This is a yet undefined clinicopathological entity with features that are often distinct from basal cell nevus syndrome (BCNS, MIM#109400). In carriers of germline SUFU variants, basaloid neoplasms tend to arise at a later age compared with BCNS; the iBCC subtype is more frequently observed, and jaw cysts have not been reported. [...].