Intrafamilial Phenotypic Variability in Tuberous Sclerosis Complex: Emphasis on Oral and Radiographic Findings in Two...

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder distinguished by hamartomatous lesions involving multiple organs, most notably the brain, skin, kidneys, and oral cavity. Considerable variability in clinical expression is often observed even among affected members of the same family. We describe two siblings, aged 12 and 8 years, who presented for dental evaluation and were found to have systemic and orofacial features consistent with TSC. Both children displayed multiple cutaneous manifestations and demonstrated subependymal nodules on magnetic resonance imaging of the brain, yet neither exhibited seizures or other neurological symptoms, in contrast to their father, who had a documented seizure history. The elder sibling presented with multiple enamel pits, three sessile gingival fibromas, and radiographic evidence of pulpal calcifications, whereas the younger sibling exhibited only a few enamel pits without other oral features. This report illustrates the heterogeneity of clinical expression that may exist within a single family and underscores the value of a thorough oral and radiographic evaluation in establishing a diagnosis of TSC.