Oral and neurocutaneous phenotypes of familial tuberous sclerosis

Objective. The objective of this study was to describe the pattern of inheritance and the clinical features in a large family with tuberous sclerosis (TS), and to focus on the general diagnosis after the initial oral examination. Study design. To characterize the pattern of inheritance and the clinical features, 61 familial members were systematically evaluated, including dermatologic, ophthalmologic, and orofacial examination. Imaging exams, such as abdomen ultrasonography, echocardiogram, fundoscopy, cranial cone-beam computerized tomography, and brain magnetic resonance, were performed. Hematoxylin and eosin stain and scanning electronic microscopy were performed to characterize TS-associated alterations in the teeth, nails, and hair. Results. The pedigree of the family was constructed including the 4 last generations and revealed nonconsanguineous marriages and an autosomal dominant mode of TS transmission. We identified 13 family members affected by TS, with 6 of them completely fulfilling the diagnostic criteria of this disorder. Hypomelanotic macules in the skin, facial angiofibromas, and dental enamel pits were the most common features of affected patients. Central nervous system alterations were identified in 5 family members, whereas cardiac and renal alterations were found in 1 member each. Conclusion. We emphasize, in this study, the importance of oral findings such as dental enamel pits and gingival angiofibromas in the early diagnosis of familial TS which led to complete familial profile and pattern of inheritance establishment. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011;111:87-94)11118794Fundação de Amparo à Pesquisa do Estado de Minas Gerais (FAPEMIG)National Council for Scientific and Technological Development, BrazilMinas Gerais State Research Foundation (FAPEMIG), Brazil [APQ-00898-08