SELLA TURCICA BRIDGING IN PATIENTS WITH GORLIN-GOLTZ SYNDROME AND ITS IMPLICATIONS

Abstract

Patients with Gorlin-Goltz syndrome, also called nevoid basal cell carcinoma syndrome (NBCCS), can present sella turcica bridging (STB), which has been associated with the development of dental and cervical vertebral anomalies. In our clinical cases series, we analyzed skull and cervical spine x-rays of 7 patients with NBCCS and STB. Three patients had STB associated with dental (agenesis, tooth impaction, hyperdontia, diastemata, microdontia, gyroversion, and supernumerary teeth) and cervical (rudimentary cervical discs and ossification of the nuchal ligament) anomalies, 3 had STB associated with dental alterations (tooth impaction, gyroversion, and agenesis), and 1 had STB associated with cervical abnormality (partial fusion of the vertebrae). The pathogenic mutation of genes (PTCH1, PTHC2, or SUFU) involved in the main pathway related to embryonic development, sonic hedgehog, promotes accumulate changes in the neural crest cells of patients with NBCCS, which phenotypically express as STB and dental and cervical vertebrae anomalies.