Tuberous sclerosis and its oral manifestations. A clinical case

Abstract

Tuberous sclerosis (TS) is a congenital anomaly in the development of the embryo which is transmitted through the autosomal dominant gene. It has various forms of clinical expression. It is classified as one of what are known as Phacomatoses (phakos stain and oma tumour), which are development anomalies that can originate tumours and/or hamartomas in the nervous system. Lesions in the nervous system are nearly always accompanied by cutaneous anomalies. In this study we introduce the case of a woman patient aged 55, diagnosed several years earlier with Tuberous Sclerosis, who attended for intraoral lesions which were clinically compatible with fibromata. These lesions of fibrous appearance occurred above all on the lower lip and in both cheeks' mucous membranes, little mentioned in the literature as a site for such a manifestation of TS. The pathological anatomy suggested lesions compatible with Angiomyolipoma. In addition, the data referring to TS are reviewed; its implications for the mouth are described; and histopathological results are used to examine the significance of the word Angiomyolipoma.