ABOUT THE PROJECT
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by mutations in the gene PTCH1, a tumor suppressor with a central role in the Sonic Hedgehog pathway in up to 85% of the cases. We identified a patient initially diagnosed with a mosaic version of Gorlin syndrome and carried a mosaic mutation in the oncogene SMOdownstream of PTCH1. An extensive literature research and phenotypic correlation of his features highlighted his similarities with Curry-Jones syndrome patients, a very rare pediatric disease caused by the very same mutation in SMO in a mosaic state as the only known cause of the syndrome. Currently known as Curry-Jones or SMO syndrome. We keep studying other patients with a clinical diagnosis of NBCCS in which the genetic cause has not been identified by standard clinical testing.
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