Gorlin-Goltz syndrome: clinical findings in a Italian population and review of the literature
Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome (NBCCS) is a rare inherited
autosomal dominant genodermatosis, with nearly complete penetrance but variable expression.
NBCCS results from mutations in the Patched 1 (PTCH1) gene (40%–88% of NBCCS cases with
higher estimates closer to 90% in more recent studies). Recently, mutations in suppressor of fused
gene (SUFU) and PTCH2 have been found in patients with NBCCS. The estimated prevalence of
the disease ranges between 1/57.000 and 1/256.000, with a male-to-female ratio of 1:1. The clinical