Orofacial features and medical profile in a patient with tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a rare autosomal-dominant multisystemic disorder caused by mutation in the TSC1/TSC2 genes. TSC is characterized by cognitive impairment, seizures, and the presence of benign tumors in multiple organs, including oral mucosa. Among oral findings, enamel hypoplasia, oral fibromas, cleft palate, and alterations of maxillary bone trabeculation are the most frequent. The present report describes the case of a melanodermic female, 41 years old, showing dermatologic and neurologic signs of TSC, with a medical history of epilepsy, cognitive deficit, chronic renal failure, arterial hypertension, cardiac arrhythmia, anemia, and hypothyroidism.

Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - August 31, 2020 Category: ENT & OMF Authors: NATALIA CARRASQUEIRAS DE BELLIS, NAT ÁLIA SILVA ANDRADE, MARINA MAUES TUMA, BRUNA DE OLIVEIRA RECH, MARINA HELENA CURY GALLOTTINI Tags: 20190169 Source Type: research