Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare genetic condition characterized by the early development of numerous cutaneous carcinomas (BCCs). Although most BCCs are surgically treated with total resection, some lesions may proceed to locally advanced or metastatic stage. Systemic treatment hedgehog inhibitors (HHIs) such as Vismodegib Sonidegib indicated in this popu...

GoRLiN, R. J., VICKERS, R. A., KELLN, E., and WILLIAMSON, J. J., 'Multiple basal-cell nevi syndrome. An analysis of a syndrome consisting of multiple nevoid basal-celled carcinoma, jaw cysts, skeletal anomalies, medulloblastoma, and hyporesponsiveness to parathormone', Cancer, 1965, 18, 89. HOWELL, J. B., ANDERSON, D. E., and MCCLENDON, J. L., 'The basal cell nevus syndrome', J. Am. med. Ass., ...

Patient 1 is a 34-year-old man who was referred to us for multiple basal cell carcinoma (BCC) in 2013. He was diagnosed with medullablastoma at age 3 and had his first BCC at age 12 which was surgically excised. Clinicopathological correlation supported Gorlin-Goltz syndrome as a diagnosis, but no further follow up was given. He is under dental follow up since the age of 20 for multiple odontog...

The development of basal cell carcinoma, the commonest human cancer in fair skinned populations, is clearly associated with constitutive activation of sonic hedgehog signaling. Insight into the genesis of BCC came from the identification of germline mutations of the tumor suppressor gene, PATCHED, a key regulatory component of hedgehog signaling in the nevoid basal cell carcinoma syndrome. Anal...

BACKGROUND Infundibulocystic basal cell carcinoma is a recently described distinctive clinicopathologic variant of basal cell carcinoma. Histopathologic differential diagnosis among infundibulocystic basal cell carcinoma, trichoepithelioma, and basaloid follicular hamartoma has generated controversy in the literature. OBSERVATIONS Members of 2 families with multiple infundibulocystic basal ce...