Amir Hossein Saeidian, Adam Cohen-Nowak, Megan O'Donnell, Doaa Shalabi, Kathleen P McGuinn, Leila Youssefian, Hassan Vahidnezhad, Fatemeh Niaziorimi, Bahar Dasgeb, Jason B Lee, Jouni Uitto, Neda Nikbakht
The patched tumor suppressor gene (PTCH1) encodes a receptor, which is a key component of the hedgehog signalling pathway. Mutations in PTCH1 are implicated in the development of sporadic basal cell carcinomas (BCC), as well as those in Gorlin Syndrome. Rarely, BCCs may develop in a linear pattern along lines of Blaschko due to cutaneous mosaicism. In cases in which there are other features of Gorlin syndrome, genomic analysis has demonstrated lesional mutations in the Hedgehog signalling pathway. Causative mutations, however, have not been firmly demonstrated in the cases of linear and segmental BCCs in otherwise healthy individuals...
April 16, 2020: Experimental Dermatology