Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene, and is characterized by a wide range of developmental abnormalities and a predisposition to multiple neoplasms.
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
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