Abstract
Tuberous sclerosis complex (TSC), a neurocutaneous syndrome, is characterized by the development of benign tumours affecting different body systems. We herein present a report of a 40-year-old female patient presenting with dental enamel pits and localized gingival overgrowth that eventually lead to the diagnosis of a case of familial TSC. Diagnosis of familial TSC by comprehensive oral examination and detection of oral manifestations proved to be inevitable as it resulted in institution of appropriate treatment strategies and genetic counselling of the affected family.
Highlights
Tuberous sclerosis complex (TSC) shows variable clinical expressivity with oral manifestations observed in less than 10% of the cases and familial inheritance pattern perceived in only 30% of the cases reported [1, 2]
There is a paucity of literature in which the diagnosis of tuberous sclerosis complex (TSC) was based on the oral findings; the aim of this case report is to emphasize oral manifestations for the diagnosis of familial case of TSC
In this case report the propositor presented with findings of multiple angiofibromatous hamartomatous lesions distributed in a butterfly wing-like pattern around malar region, infrequent occurrence of seizures and renal and pancreatic angiomyolipomas along with enamel pitting, and localized gingival overgrowth
Summary
Tuberous sclerosis complex (TSC) shows variable clinical expressivity with oral manifestations observed in less than 10% of the cases and familial inheritance pattern perceived in only 30% of the cases reported [1, 2]. The most commonly noted oral manifestations in TSC are presence of oral fibromas, gingival hyperplasia, and enamel hypoplasia in the form of dental enamel pitting.
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