Home | About us | Editorial board | Ahead of print | Current issue | Archives | Search | Submit article | Instructions | Subscribe | Advertise | Contact us |  Login 
National Journal of Maxillofacial Surgery
 
Print this page Email this page Small font sizeDefault font sizeIncrease font size
Users Online: 145
 


 
Table of Contents
CASE REPORT
Year : 2017  |  Volume : 8  |  Issue : 2  |  Page : 162-166  

Osteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: A rare presentation and review of literature


Department of ENT and Head Neck Surgery, Medica Super Speciality Hospital, Kolkata, West Bengal, India

Date of Web Publication28-Dec-2017

Correspondence Address:
Dr. Anupama Singh Satpathy
Flat No. B-301, Mayfair Greens, 449 S. N. Ghosh Avenue, Narendrapur, Kolkata - 700 103, West Bengal
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/njms.NJMS_48_17

Rights and Permissions
   Abstract 


Brown's tumor, also referred as osteitis fibrosa cystica is a rare nonneoplastic diagnostically challenging consequence of hyperparathyroidism (HPT) which occurs due to increased parathormone secretions in blood, causing excessive calcium resorption from kidneys, bone resorption, and phosphaturia. Brown's tumor is a misnomer, presenting as cystic expansile lesions in bone, often misdiagnosed as neoplastic lesion or granuloma or abscess in bones. It can affect long bones, clavicle, ribs, and pelvis. According to literature, skeletal manifestations of Brown tumor is relatively rare and occurs in <2% of the cases of HPT. We present a case of a female 15-year-old patient who presented with bleeding gums and an expansile lesion in mandible whose previous investigations elsewhere suggested a malignant lesion. However, further investigations revealed it to be Brown's tumor with primary HPT which is a rare genetic disorder, known as HPT-Jaw Tumor Syndrome (HPT-JT).

Keywords: Brown tumor, hyperparathyroidism jaw tumor, mandible, parathormone


How to cite this article:
Satpathy AS, Dasgupta A, Dutta C, Mohan NK, Satpathy S. Osteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: A rare presentation and review of literature. Natl J Maxillofac Surg 2017;8:162-6

How to cite this URL:
Satpathy AS, Dasgupta A, Dutta C, Mohan NK, Satpathy S. Osteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: A rare presentation and review of literature. Natl J Maxillofac Surg [serial online] 2017 [cited 2021 Oct 16];8:162-6. Available from: https://www.njms.in/text.asp?2017/8/2/162/221709




   Introduction Top


Parathyroids are four in number situated behind the thyroid gland. The function of Parathyroid hormone (PTH) is to maintain a proper calcium balance in the bloodstream and in tissues. PTH interacts with Vitamin D and its metabolites to regulate calcium absorption and excretion. Hyperparathyroidism (HPT) is a pathological condition characterised by elevated levels of parathormone in the blood due to overactivity of one or more parathyroid glands.[1] Primary lesion in parathyroid with excessive PTH secretion resulting into high PTH and high calcium is called primary HPT. Secondary HPT is due to Vitamin D deficiency or chronic renal failure, with high PTH and low calcium. Tertiary is with autonomic PTH secretion leading to high PTH and high calcium, with a history of chronic renal failure.[2]. HPT caused by parathyroid adenoma causing increased osteoclastic activity in skeletal system presents as osteitis fibrosa cystica also known as Von Recklinghausen's disease of bone. HPT can also present as a part of multiple endocrine neoplasia (MEN) I, IIa, and IIIb.[1]

Most of the patients with HPT remain asymptomatic and presents as an incidental diagnosis on biochemical testing with hypophosphatemia, hypercalcemia, and increased alkaline phosphatase levels in the blood.[1]

Brown tumor is a benign intraosseous, nonneoplastic lesion consisting of cellular fibrous tissue with multiple foci of mononuclear stromal cells mixed with hemorrhagic infiltrates, aggregations of multinucleated giant cells, hemosiderin deposits and occasionally trabeculae of woven bone. Radiologically, they present as solitary or multilocular soap bubble-like bone expanding radiolucencies.[3] The reported prevalence of Brown tumor is 0.1% with male:female ratio of 1:3 in age group <30 years. Its rare in facial bones but more common in the mandible than the maxilla.[4] They mainly occur in patients with secondary HPT with renal insufficiency, and calcium malabsorption in facial bones, clavicle, ribs, pelvis, and femur are affected. Primary HPT with ossifying fibroma of the jaw, which represents HPT-Jaw Tumor syndrome (HPT-JT) is a rare variant.[5],[6]

We present a case report of a 15-year-old female with fibro-ossifying tumors of the mandible and multiple lytic lesions in skull, humerus, pelvis, femur, and other long bones with severe HPT.


   Case Report Top


A 15-year-old female patient referred from elsewhere was admitted in otorhinolaryngology department with slightly painful swelling in left side of the lower jaw, and bleeding from gums while brushing for the past 2 months. There was a history of abdominal pains with nausea, pain in limbs, and back every now and then for the last 3 years. She started limping in the past 2–3 months. There was no history of peptic ulcers, fractures, vitamin and calcium supplementation intake, urolithiasis, or any exposure to radiations.

On physical examination, there was a large 8 cm × 5 cm × 3 cm firm, slightly tender swelling in the left side of the mandible with the widening of the alveolar process. On palpation, no egg shell crackling was noted. On neck examination, no clinically palpable cervical lymph node detected. Rest of systemic examinations was normal [Figure 1].
Figure 1: Large swelling involving left side of the body of mandible with widening of alveolar process

Click here to view


Blood tests demonstrated haemoglobin (14.1), total count (8580), elevated intact S. PTH (2269 pg/ml), raised S. Calcium (12.3 mg/dl), raised S. Alkaline Phosphatase (3319U/L), low Vitamin D3 (10.63 ng/ml), normal S. Prolactin (12.86 ng/ml) and normal S. Phosphorus (19.4). Urine calcium concentration was normal, 24 h urine for Phosphorus was low (291 mg/24 h), creatinine in urine was also low (408 mg/24 h).

  • Fine-needle aspiration cytology showed: profuse Giant cells rich lesion-Giant cell reparative granuloma or Giant cell tumor of bone with scanty pus cells, no organism, acid-fast bacteria negative
  • On HPE: vascularized fibrous tissue in vague storiform pattern, bony spicules and numerous osteoclastic cells with areas of hemorrhage and extravasated RBCs consistent with Brown tumor of HPT
  • Contrast-enhanced computed tomography (CT) Face revealed: large destructive expansile lesion involving mandible-well defined, 7.0 cm × 5.2 cm × 5.0 cm with soap bubble appearance involving 2/3rd of the left side of body of mandible up to first molar tooth, to right side up to canine, medially involving the left geniohyoid/genioglossus muscle with early obscuration of sublingual space [Figure 2]. Diffuse ground glass opacity in skull vault with lytic and sclerotic foci in vertebrae and head of left humerus
  • X-ray skeletal survey: lytic with sclerotic lesions seen at the end of long bones with early deformity. Possible sclerosis seen on both SI joint. Bowing of both humeral neck regions
  • USG Neck: Cystic SOL in left side of mandible and a possible cervicle lymph node near inferior part of left lobe of thyroid
  • Sestamibi scan: left inferior parathyroid adenoma
  • USG whole abdomen showed: Normal study.


She was initially on conservative management for treatment of HPT, MEN I was ruled out after consultation with Endocrinologist and Orthopaedic surgeon. Left parathyroid adenoma which was 2 cm × 1 cm in size was excised [Figure 3]. Preexcision serum PTH level was 1472 pg/mL, whereas, intraoperatively, postexcision level came to be 248 pg/mL.
Figure 2: Axial section computed tomography scan showing large destructive expansile lesion with soap bubble appearance involving 2/3rd of the left side of body of mandible

Click here to view
Figure 3: Resected parathyroid adenoma (2 cm × 1 cm)

Click here to view


After surgery, patient was on conservative management and advised for regular follow-up. Six months after initial management the patient had a minimal external deformity, no systemic manifestation and improved quality of life [Figure 4] and [Figure 5]. Repeat CT scan was done after 6 months and again after 1 year, [Figure 6] and [Figure 7] showing significant reduction of size of the lesion although complete bone remodeling will still take time.
Figure 4: Clinical picture six months postsurgery showing significant reduction in size of tumor

Click here to view
Figure 5: Clinical picture 6 months postsurgery showing correction of external facial deformity

Click here to view
Figure 6: Axial section computed tomography scan 6 months postsurgery

Click here to view
Figure 7: Axial section computed tomography scan 1 year postsurgery

Click here to view



   Discussion Top


Different bone expanding giant cell lesions that can arise in jaw bones include odontogenic cysts and tumors, i.e., periodontal cyst, radicular cyst, or ameloblastoma, infectious diseases such as osteomyelitis or bone abscess, primary bone tumors, and cysts such as giant cell reparative granuloma or myxoma or simple bone cysts or odontogenic fibromas, metabolic bone disease, i.e., HPT or metastasis from a known or unknown primary such as lung, breast, kidney, or prostate.[3]

Excessive PTH secretion causes osteoclastic activity to exceed the osteoblastic activity resulting into bone resorption, intraosseus bleeding and tissue degeneration, with the formation of a cystic lesion filled with hemosiderin loaded macrophages, giant cells, and fibroblasts. Hemosiderin deposits, hemmorhages and vascularization results into color and name BROWN TUMOR. It is difficult to differentiate brown tumor from any other jaw bone expansile lesion on the basis of histopathology or radiology, but the clinical correlation with HPT favours the diagnosis.[7] Symptoms caused by the lesion depends on their size and location.[8],[9]

Histopathologically, it is very difficult to differentiate it from giant cell reparative granuloma, fibrous dysplasia or true giant cell tumors. Giant cell reparative granuloma is a localized lesion occurring mainly in young females but without HPT. True giant cell tumors will be more infiltrative and with some degree of cellular atypia histologically. Infectious diseases and other local cysts will also be localized and will lack the features of HPT.[3]

Ossifying fibroma of the jaw (brown tumor) with primary HPT, as in our case, is a relatively rare autosomal dominant disorder with incomplete penetrance and variable expressions and is known as HPT-JT. Pathogenesis of HPT-JT involves an activation of HRPT2 gene (located on 1q25) which codes for a 531 amino acid protein called parafibromin. Tumor suppressor role is also suggested here for the allelic loss of 1q24–q32.[10] There is reduced penetrance in females. HPTJT which is considered more aggressive as compared to sporadic HPT due to the risk of developing parathyroid carcinomas (10%–15% of affected individuals)[11] and frequent multiglandular involvement. Single gland involvement occurs in 89% of cases. Treatment for HRPT2 related HPT is surgery. Radiologically, the unique parathyroid lesion is excised and so is a grossly enlarged gland. Recurrent cases need revision surgery. Single gland disease may also be confirmed by intraoperative PTH assay which should decrease by more than 50% in 10 min after excision. Long-term follow-ups in these patients is mandatory.

Brown tumors usually regress after normalization of S. PTH levels. Cystic brown tumors will not show radiographic ossification after parathyroidectomy. Bone lesion need not to be operated on. There are possibilities of remodelling after normocalcemia level is achieved, but in case of persistent bony lesion even after 6 months of metabolic control, curettage and enucleation is recommended.[12]


   Conclusion Top


Primary HPT with Vitamin D deficiency, hypercalcemia and brown tumor in mandible-HPT-JT syndrome is a relatively rare now, especially after recent improvements in analytical technologies which usually detects HPT in asymptomatic stage. At present, in Asian population, Primary HPT is three times more common than diabetes mellitus. It's presentation as osteitis fibrosa cystica is rarer, <2% of the population. Serum PTH level and levels of Vitamin D3, calcium, phosphorus, and alkaline phosphatase in blood is mandatory for planning management of any bone expansile lesion cases. Excision of parathyroid adenoma and achievement of normocalcemic level with long-term follow-up proves to be the treatment of choice in these cases. Curettage and enucleation should be considered in cases where primary bone lesion expands or does not regress even after 6 months of primary management.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the author.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
   References Top

1.
Rosenberg EH, Guralnick WC. Hyperparathyroidism: A review of 220 proved cases, with special emphasis on findings in the jaw. Oral Surg Oral Med Oral Pathol 1962;15:84-94.  Back to cited text no. 1
    
2.
Ahmed R, Ahmed JM. Primary secondary, tertiary hyperparathyroidism. Otolaryngol Clin North Am 1996;17:407-10.  Back to cited text no. 2
    
3.
Som PM, Lawson W, Cohen BA. Giant-cell lesions of the facial bones. Radiology 1983;147:129-34.  Back to cited text no. 3
[PUBMED]    
4.
Whitaker SB, Waldron CA. Central giant cell lesions of the jaws. A clinical, radiologic, and histopathologic study. Oral Surg Oral Med Oral Pathol 1993;75:199-208.  Back to cited text no. 4
[PUBMED]    
5.
Proimos E, Chimona TS, Tamiolakis D, Tzanakakis MG, Papadakis CE. Brown tumor of the maxillary sinus in a patient with primary hyperparathyroidism: A case report. J Med Case Rep 2009;3:7495.  Back to cited text no. 5
[PUBMED]    
6.
Okada H, Davies JE, Yamamoto H. Brown tumor of the maxilla in a patient with secondary hyperparathyroidism: A case study involving immunohistochemistry and electron microscopy. J Oral Maxillofac Surg 2000;58:233-8.  Back to cited text no. 6
[PUBMED]    
7.
Keyser JS, Postma GN. Brown tumor of the mandible. Am J Otolaryngol 1996;17:407-10.  Back to cited text no. 7
[PUBMED]    
8.
Merz MN, Massich DD, Marsh W, Schuller DE. Hyperparathyroidism presenting as brown tumor of the maxilla. Am J Otolaryngol 2002;23:173-6.  Back to cited text no. 8
[PUBMED]    
9.
Kar DK, Gupta SK, Agarwal A, Mishra SK. Brown tumor of the palate and mandible in association with primary hyperparathyroidism. J Oral Maxillofac Surg 2001;59:1352-4.  Back to cited text no. 9
[PUBMED]    
10.
Teh BT, Farnebo F, Twigg S, Höög A, Kytölä S, Korpi-Hyövälti E, et al. Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families. J Clin Endocrinol Metab 1998;83:2114-20.  Back to cited text no. 10
    
11.
Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism - Jaw tumor syndrome. Nat Genet 2002;32:676-80.  Back to cited text no. 11
[PUBMED]    
12.
Yamazaki H, Ota Y, Aoki T, Karakida K. Brown tumor of the maxilla and mandible: Progressive mandibular brown tumor after removal of parathyroid adenoma. J Oral Maxillofac Surg 2003;61:719-22.  Back to cited text no. 12
[PUBMED]    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]


This article has been cited by
1 A case of giant cell granuloma of maxilla in patient in dialysis for kidney failure due to glomerulonephritis
Alberto Caranti,Paolo Biondi,Mauro Budini,Andrea Cimatti
Otorinolaringologia. 2020; 69(4)
[Pubmed] | [DOI]
2 Parathyroid adenoma combined with a rib tumor as the primary disease: A case report
Lu Han,Xiao-Feng Zhu
World Journal of Clinical Cases. 2020; 8(19): 4681
[Pubmed] | [DOI]
3 Severe hypercalcemia and a pelvic brown tumor in an adolescent with primary hyperparathyroidism: a case report
O. Legault,M. Inman,N. Moolman,S. Wiebe,A. Poulin,M. A. Nour
BMC Pediatrics. 2020; 20(1)
[Pubmed] | [DOI]
4 Osteodystrophies of jaws
N Santana,S Mehazabin,K Sangeetha,M Kumari
Journal of Oral and Maxillofacial Pathology. 2020; 24(2): 405
[Pubmed] | [DOI]



 

Top
   
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
    References
    Article Figures

 Article Access Statistics
    Viewed1520    
    Printed39    
    Emailed0    
    PDF Downloaded261    
    Comments [Add]    
    Cited by others 4    

Recommend this journal