Oral manifestation in a cohort of tuberous sclerosis complex (TSC) patients

Purpose: The aim of this study was to determine the prevalence and distribution of oral manifestations of Tuberous Sclerosis Complex (TSC) and the association with genetic anomalies typical of this condition in a cohort of consecutive patients. Methods: A total of 34 patients were included in the study. All subjects were diagnosed as TSC cases according to neurological, psychiatric, renal and dermatological evidences supported by proper investigations. Complete X-ray, MR scan, EEG and oral and cutaneous biopsies were obtained when appropriate. Patients were followed by the oral unit of the TSC multidisciplinar group from 09-2002 to 01-2005 and received a complete oral evaluation and orthopanoramic examination. Biomolecular genetics was performed to assess 9q34 (TSC1) and 16p33 (TSC2) genes. Results: A total of 22 female and 12 male TSC patients were examined (mean age 27.96 yrs - range 5-54 yrs). In 29 patients a complete evaluation could be achieved. Oral diseases and conditions observed were: 23/29 punctated enamel pittings of permanent teeth, 12/29 multiple gingival and mucosal fibromas and/or angiofibromas. In one case the enamel pittings were the first finding sugge- stive for the TSC definitive diagnosis. In our patients, oral TSC associated anomalies were not prevalently linked to either genetic profiles. Conclusions and Relevance: This report focused on the oral manifestations of Tuberous Sclerosis Complex and their relation to clinical signs and symptoms and genetic profiles.