Advances in genetic understanding of gorlin syndrome and emerging treatment options

 Shawn Shih, Christina Dai, Ahmed Ansari, Brittany A Urso, Amy I Laughlin & James A Solomon

Introduction: Basal cell carcinoma nevus syndrome (BCCNS) is a rare syndrome characterized by multiple basal cell carcinomas (BCC), odontogenic keratocysts, and other abnormalities. The most common etiology, the loss-of-function PTCH1 mutations and consequent constitutive hedgehog signaling, can be blocked by smoothened inhibitors (SIs). However, other causes and alternative pathways have been identified.