Enamel Renal Syndrome: A Case Report

Amelogenesis imperfecta is a genetic disorder that manifests as a defect in the quality or quantity of enamel in both deciduous and permanent teeth, affecting some teeth or the entire dentition. A fraction of cases occur in conjunction with systemic involvement. Enamel renal syndrome is a rare entity diagnosed based on a combined presentation of amelogenesis imperfecta and renal calculi. The ambiguity surrounding succinct diagnostic criteria results in a significant underestimation of prevalence. A 12-year-old male presented with discoloration of teeth for two years with no relevant past medical or dental history. Intraoral examination revealed yellowish discoloration of the entire dentition and fibrotic gingival enlargement. Abdominal ultrasound revealed renal calculi. Based on the clinical, pathological, and radiographic features, a diagnosis of enamel renal syndrome was made. This case underscores the need for a comprehensive diagnostic workup to prevent complications that may arise from systemic involvement.