Tuberous sclerosis: a case report with peripheral ossifying fibroma

Abstract

Tuberous sclerosis is a syndrome with various clinical manifestations affecting different parts of body. As for seizural attacks, the patients can be prone to traumatic accidents, which predispose evolution of some reactive lesions. Here we present a Tuberous sclerosis case with peripheral ossifying fibroma lesion.

Introduction

Tuberous sclerosis syndrome is a neurocutaneous autosomal dominant syndrome with various clinical manifestations which affects different organs of body¹ and occurs as a result of a mutation in one of the genes TSC1, TSC2 and TSC2TSC1 which are related to the synthesis of Hamartin and Tuberin proteins. These proteins act as tumor growth suppressors and regulators of cellular differentiation and proliferation.² The prevalence of this disease is 1:5800 cases at birth and its total prevalence is 1:30,000 or 1: 500,000 cases.³

One of the most common clinical features of TSC is epileptic seizures, observed in 90% of patients. The most prevalent skin manifestations are ash-leaf spots which are hypomelanotic leaf-like macules. One important finding in this syndrome is the presence of angiofibromas in 70% of the cases. These nodules are fibrovascular proliferation which show up as pink elevations mostly seen in nasolabial fold area, cheeks and chin in butterfly distribution pattern. Café au lait spots and vascular nevi are also common. Renal, ocular and cardiac abnormalities have also been noted. Oral manifestations of TSC are present in 11% of patients.³ From the highly noted oral manifestations, fibromas, gingival enlargements and enamel hypoplasia can be named.⁴ Others are hemangiomas, hyperosteosis, pseudo-cystic lesions of mandible and alveolar bone thickening.³ The diagnostic criteria of TSC have been divided into major and minor features. The presence of two major characteristics or one major and two minor criteria confirms the diagnosis (Table 1).⁵

Peripheral ossifying fibroma is a gingival enlargement arising from interdental papillae. Females are more affected and the anterior maxilla is the most common place of involvement. In children, tooth displacement and delay in tooth eruption have been noted. The etiology and pathogenesis of POF is still unclear. Some researchers consider it as a neoplastic process and the others classify it as a reactive lesion; in either side, POF originates from cells of the periodontal ligament. Trauma and local factors are mentioned as contributing factors and excisional surgery is the treatment of choice.⁶

Here we present a case of Tuberous sclerosis with peripheral ossifying fibroma induced by trauma. The lesion was surgically removed afterwards.