Enamel-Renal Syndrome (ERS) - characteristic symptoms in the oral cavity

Amelogenesis imperfecta (AI ; congenital enamel hypoplasia) is a genetic disorder of developmental enamel of ectodermal origin that relates to the enamel of deciduous (primary) and permanent teeth. Recent reports suggested that Amelogenesis imperfecta may be associated with morphological and biochemical changes elsewhere in the body. The clinical features of Amelogenesis imperfecta vary depending on the type. In the hypoplastic type of Amelogenesis imperfecta, which can be related with functional abnormalities of the urinary tract, the teeth exhibit a chalky white to dark brown colour, the occlusal surfaces are generally abraded and semi-lunar shape of central incisor edge is noticed; sometimes, gingival fibromatosis (variable severity) can be observed.

AI coexistence with changes in the urinary tract is described as Enamel-Renal Syndrome (ERS) and Amelogenesis imperfecta with Gingival Fibromatosis Syndrome (AIGFS); both have been associated with mutations in FAM20A. The common features of ERS are the presence of thin or no enamel, delayed tooth eruption, intrapulpal calcification, bilateral nephrocalcinosis and normal plasma calcium. Patients with AI and nephrocalcinosis syndrome may have no renal complications until late childhood or early adulthood. It is mandatory to refer children with generalized hypoplastic AI for medical examination including renal function tests and ultrasonography to exclude nephrocalcinosis.