Giant Facial Angiofibroma as an Unusual Manifestation of Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is a genetic disease characterized by the growth of tuberous fibromas in various locations of the body, due to a mutation in the protein tuberin or hamartin. This mutation leads to significant neurological and functional impairment, as well as dysregulation in the mTOR pathway. We review the case of a 47-year-old Hispanic man born with TSC, who presented to our service with a large mandibular neoformation. He is non-verbal and presents with dental enamel pits, epilepsy, intellectual disability, and other manifestations of TSC. Resection of the neoformation was performed under localized anesthesia, and histopathology confirmed a diagnosis of angiofibroma, a gigantic one due to the overall size. This case is notable for the size of the neoformation, the location, and the rapid growth pattern presented. A foreign body reaction may compound the underlying mTORopathy to contribute to the pathogenesis of a giant angiofibroma. This case illustrates management principles for giant angiofibromas and elucidates a pathophysiologic mechanism for their development.