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CASE REPORTS
JOURNAL ARTICLE
Enamel-Renal-Syndrome: case report.
Special Care in Dentistry 2018 May
AIMS: to describe a case in which dental changes were observed and investigation proceeded to consider Enamel-Renal-Syndrome (ERS), a rare disorder that associates amelogenesis imperfecta with nephrocalcinosis.
CASE REPORT: an 11-year-old male patient upon intraoral examination revealed generalized gingival hyperplasia, a few teeth were absent clinically and the remaining ones were yellowish-brown in color. The enamel alterations were suggesting of amelogenesis imperfecta. Unerupted teeth with increased pericoronal spaces, suggesting hyperplasic follicles or dentigerous cysts and an enamel with lower thickness and density were observed in the panoramic radiography. The patient was referred for an assay to investigate mucopolysaccharidosis; however, it was negative. A renal ultrasound showed bilateral nephrocalcinosis and laboratory exams, including calcium, phosphate, and creatinine levels were below the average. An incisional gingival biopsy showed numerous round to ovoid basophilic calcifications in the connective tissue. The final diagnosis was ERS.
CONCLUSION: Dentists should refer patients with similar clinical presentation for renal ultrasound evaluation in order to rule out the possible diagnosis of ERS.
CASE REPORT: an 11-year-old male patient upon intraoral examination revealed generalized gingival hyperplasia, a few teeth were absent clinically and the remaining ones were yellowish-brown in color. The enamel alterations were suggesting of amelogenesis imperfecta. Unerupted teeth with increased pericoronal spaces, suggesting hyperplasic follicles or dentigerous cysts and an enamel with lower thickness and density were observed in the panoramic radiography. The patient was referred for an assay to investigate mucopolysaccharidosis; however, it was negative. A renal ultrasound showed bilateral nephrocalcinosis and laboratory exams, including calcium, phosphate, and creatinine levels were below the average. An incisional gingival biopsy showed numerous round to ovoid basophilic calcifications in the connective tissue. The final diagnosis was ERS.
CONCLUSION: Dentists should refer patients with similar clinical presentation for renal ultrasound evaluation in order to rule out the possible diagnosis of ERS.
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