Fibrous dysplasia in maxilla in a patient on hemodialysis with severe secondary hyperparathyroidism

Article information

Korean J Intern Med. 2022;37(3):695-696

Publication date (electronic) : 2022 March 29

doi : https://doi.org/10.3904/kjim.2021.473

Hui-Hsin Yang¹, Cheng-Hsien Wu^2,3, Hsin-Lin Tsai^4,5, Jei-Wen Chang^5,6

¹Department of Surgery, Fu Jen Catholic University Hospital, New Taipei City, Taiwan

²Division of Oral & Maxillofacial Surgery, Department of Stomatology, Taipei Veterans General Hospital, Taipei, Taiwan

³School of Dentistry, National Yang Ming Chiao Tung University, Taipei, Taiwan

⁴Division of Pediatric Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan

⁵Faculty of Medicine, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan

⁶Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan

Correspondence to: Jei-Wen Chang, M.D., Tel: +886-2-2875-7576, Fax: +886-2-2873-9019, E-mail: jwchang@vghtpe.gov.tw

Received 2021 October 20; Revised 2021 November 23; Accepted 2021 November 25.

A 26-year-old woman who had been on hemodialysis for 7 years presented with a gradually swelling palatal lesion causing difficulty in phonation, dysphagia, and splaying of the maxillary teeth (Fig. 1A). Her PTH levels had been very high for 6 years. At this presentation, laboratory results showed: parathyroid hormone (PTH) level > 3,000 pg/mL, phosphorus level 6 mg/dL, alkaline phosphatase level 1,416 U/L, and normal calcium level (9 mg/dL). Computed tomography showed expansile lesions over bilateral mandibular bodies and palate with ground-glass appearance and mild osteolytic change of the left lateral sphenoid ridge (Fig. 1B). An incisional biopsy showed proliferation of fibrous tissue with a misshapen trabecular bone, scant osteoblastic rimming and mild increase in osteoclastic infiltration, compatible with fibrous dysplasia or brown tumor. Guanine nucleotide-binding protein/alpha-subunit (GNAS) exon 8 DNA sequencing showed substitution of arginine 201 with serine (R201S), confirming the diagnosis of fibrous dysplasia. She received subtotal parathyroidectomy and deceased kidney transplantation 2 months later. To correct the facial deformity, she received partial maxillectomy, resection of the maxillary tumor followed by reconstruction and tooth replantation nearly 1.5 years later. After nearly 2 years of follow-up, she had satisfactory function and aesthetic appearance (Fig. 2).

Figure 1

Clinical picture and computed tomography. (A) Clinical appearance of the patient showing enlargement of the palate with maxillary teeth splayed outwards and difficulty in closing her mouth. (B) Coronary computed tomography showing expansile lesions in the maxilla and mandible that had ground-glass and mixed osteoblastic and osteolytic appearances.

Figure 2

Posttreatment facial and frontal-intraoral photographs. (A, B) Long-term results after surgery showing a satisfactory aesthetic outcome.

Brown tumor and fibrous dysplasia can show radiological and histopathologic similarities in patients with chronic renal failure, in whom GNAS gene analysis is a reliable and valuable adjunct to differentiate fibrous dysplasia from brown tumor. The management of patients with craniofacial fibrous dysplasia should be individualized. Fibrous dysplasia is benign, and surgical treatment is indicated in symptomatic cases with pain, fracture or significant deformity. Written informed consent was obtained from the patient.