An 'accidental' incident leading to an incidental finding of Gorlin-Goltz syndrome in a child

摘要

A 6-year-old boy was referred to the oral surgery department for assessment of a cyst-like lesion in the left body of mandible. The child had previously been managed for developmental delay and a syndromic appearance by medical colleagues with no firm diagnosis. Histology of the lesion confirmed a keratocystic odontogenic tumour (KCOT) and pointed towards a diagnosis of Gorlin-Goltz syndrome (GGS) when combined with other clinical features and confirmed by genetic testing. This case highlights the importance of team work, appropriate and proportionate application of different imaging modalities to characterise intraosseous lesions in children and monitoring for interval change, as well as the conservative approach to management of such lesions in younger patients. Prognosis improves with early recognition of clinical and radiographic manifestations of GGS facilitated by multi-disciplinary involvement. This may reduce the severity of complications including maxillofacial deformities associated with jaw KCOTs and malignant skin and brain tumours.