1. Enamel-Renal-Syndrome: case report
- Author
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Tânia Regina Grão Velloso, Luiz Henrique Soares Torres, Sergio Lins de-Azevedo-Vaz, Daniela Nascimento Silva, Danielle Resende Camisasca Barroso, and Liliana Aparecida Pimenta De Barros
- Subjects
Pathology ,medicine.medical_specialty ,Mucopolysaccharidosis ,Radiography ,030232 urology & nephrology ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,stomatognathic system ,Biopsy ,Medicine ,Amelogenesis imperfecta ,General Dentistry ,Creatinine ,Enamel paint ,medicine.diagnostic_test ,business.industry ,030206 dentistry ,Hyperplasia ,medicine.disease ,stomatognathic diseases ,chemistry ,visual_art ,visual_art.visual_art_medium ,Nephrocalcinosis ,business - Abstract
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.
- Published
- 2018
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