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- W4322733375 abstract "Introduction: Gorlin syndrome (GS) or nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder characterised by development of multiple basal cell carcinomas (BCCs) at a young age. NBCCS occurs because of mutations in the PTCH1 gene, which functions as a tumour suppressor gene.
 Patients with GS can have varied manifestations, both cutaneous and extra-cutaneous. The most notable cutaneous manifestations are BCCs, which are also the most characteristic tumours in GS, and palmar/plantar pits. Besides the BCC, medulloblastomas are the second most characteristic malignant presentation.
 There are a set of criteria for the diagnosis of GS, which have a high predictability in making an accurate diagnosis of GS. Genetic testing for PTCH1 gene is one of the diagnostic criteria, which is positive in about 60% of patients.
 Patients with GS need a multidisciplinary approach. Mohs micrographic surgery is recommended for BCCs on high risk areas. SMO receptor inhibitors such as Vismodegib and Sonidegib have been approved by FDA for the treatment of advanced BCCs." @default.
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- W4322733375 date "2023-02-18" @default.
- W4322733375 modified "2023-09-26" @default.
- W4322733375 title "Nevoid Basal Cell Carcinoma Syndrome: A Review" @default.
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- W4322733375 doi "https://doi.org/10.24018/ejmed.2023.5.1.1597" @default.
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