Infantile-onset palmo-plantar basal cell carcinomas and pits in Gorlin syndrome

Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome [NBCCS]) is caused by an autosomal-dominant mutation in patched tumor suppressor genes 1 and 2 (PTCH1, PTCH2), or suppressor of fused homolog (SUFU) genes, involved in the hedgehog pathway. It carries a variable expressivity1 and manifests with a typical facies (macrocephaly, frontal bossing, coarse features, hypertelorism), palmo-plantar pits, multiple basal cell carcinomas (especially of the face, back, and chest1), and a propensity for other tumors (medulloblastomas, cardiac, and ovarian fibromas), among other features.