Nephrocalcinosis associated with continuous enamel hypoplasia and severe alveolar bone loss: a case report and literature review.

Enamel-renal syndrome (ERS) is a rare manifestation of nephrocalcinosis that has been associated with generalized enamel hypoplasia. The purpose of this paper was to describe, for the first time, the association of enamel-renal syndrome with severe localized periodontal bone loss. A 13-year-old boy presented with: generalized hypoplastic enamel; intrapulpal calcifications; retention of primary teeth; delayed eruption of permanent teeth; enlarged dental-follicles; misshaped roots of permanent teeth; gingival overgrowth; severe localized alveolar bone loss; and severe malocclusion. His parents were first cousins, suggesting autosomal recessive inheritance. Further studies are necessary to clarify whether the etiology of the oral disturbances relates to the genetic defect in the dental tissue or to the continuous metabolic distress associated with renal dysfunction. Nevertheless, since nephrocalcinosis is often asymptomatic, dentists should refer children with generalized enamel hypoplasia or/and multiple intrapulpal calcifications to nephrologists.