Variants in the PTCH1 gene have been found to cause nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, with typical clinical manifestations of multiple basal cell carcinomas, odontogenic keratocysts of the jaw, palmar and plantar pits, intracranial ectopic calcification, facial dysmorphism (macrocephaly, cleft lip/palate), and eye anomalies (cataract, pigmentary changes of the retinal epithelium and developmental defects)2,3. This evidence concerns the gene PTCH1 and nevoid basal cell carcinoma syndrome.