ABSTRACT
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome or Gorlin±Goltz syndrome, is a rare, autosomal dominant disorder characterized by the development of multiple basal cell carcinomas (BCCs), odontogenic keratocysts, and skeletal abnormalities. The genetic basis of BCNS has been linked to mutations in the PTCH1 and PTCH 2 tumor suppressor genes on chromosome 9. These genes are all members of the sonic hedgehog signaling pathway. Dysregulation of this pathway leads to unregulated stimulation and downstream activation of oncogenes such as the glioma-associated oncogene family, ultimately causing abnormal proliferation and cancer development.
