Renal osteodystrophy and brown tumours of the jaw associated with tertiary hyperparathyroidism in the context of cystinosis: a case report
Keywords:Renal osteodystrophy, Chronic kidney disease, Osteitis fibrosa cistica, Brown tumour, Tertiary hyperparathyroidism, Cystinosis
Chronic kidney disease is one of the main manifestations of cystinosis that may lead to hyperparathyroidism. Although head and neck involvement in hyperparathyroidism is rare, lesions can occur in the jaws and cause serious functional handicap. We presented the case of a 24-year-old woman with congenital cystinosis and chronic renal failure complaining from symptomatic expansion of the jawbones. Medical imaging showed radiolucent lesions particularly in anterior hard palate and body of mandible. A diagnosis of renal osteodystrophy and brown tumours related to tertiary hyperparathyroidism was established. Following a subtotal parathyroidectomy and stabilization of parathyroid hormone levels, a conservative mandibular osteoplasty was undertaken to increase the available space for tongue movements. Although non-surgical management remains the primary modality for the treatment of brown tumours, adjunctive surgical approach may be considered in cases of severe functional impairment. It is imperative that underlying systemic imbalances be addressed prior to any maxillofacial intervention to prevent relapse.
Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, et al. First NIH/office of rare diseases conference on cystinosis: past, present, and future. Pediatr Nephrol. 2005;20(4):452-4.
Bilezikian JP, Bandeira L, Khan A, Cusano NE. Hyperparathyroidism. Lancet. 2018;391(10116):168-78.
Brabyn P, Capote A, Belloti M, Zylberberg I. Hyperparathyroidism diagnosed due to brown tumors of the jaw: a case report and literature review. J Oral Maxillofac Surg. 2017;75(10):2162-9.
Satpathy AS, Dasgupta A, Dutta C, Mohan NVK, Satpathy S. Osteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: a rare presentation and review of literature. Natl J Maxillofac Surg. 2017;8(2):162-6.
Panagopoulos A, Tatani I, Kourea HP, Kokkalis ZT, Panagopoulos K, Megas P. Osteolytic lesions (brown tumors) of primary hyperparathyroidism misdiagnosed as multifocal giant cell tumor of the distal ulna and radius: a case report. J Med Case Rep. 2018;12(1):176.
Palla B, Burian E, Fliefel R, Otto S. Systematic review of oral manifestations related to hyperparathyroidism. Clin Oral Investig. 2018;22(1):1-27.
Waziri B, Duarte R, Naicker S. Chronic kidney disease-mineral and bone disorder (CKD-MBD): current perspectives. Int J Nephrol Renovasc Dis. 2019;12:263-76.
Leal CT, Lacativa PG, Gomes EM, Nunes RC, Costa FL, Gandelmann IH, et al. Surgical approach and clinical outcome of a deforming brown tumor at the maxilla in a patient with secondary hyperparathyroidism due to chronic renal failure. Arq Bras Endocrinol Metabol. 2006;50(5):963-7.
Jakubowski JM, Velez I, McClure SA. Brown tumor as a result of hyperparathyroidism in an end-stage renal disease patient. Case Rep Radiol. 2011;2011:415476.
Selvi F, Cakarer S, Tanakol R, Guler SD, Keskin C. Brown tumour of the maxilla and mandible: a rare complication of tertiary hyperparathyroidism. Dentomaxillofac Radiol. 2009;38(1):53-8.