Mandibular pain and deformation as a presentation of fibrous dysplasia of the mandible

Česká verzia

Authors: Tomáš Křiva ¹; Zdeněk Adam ²; Marek Brumla ³; Ctirad Macháček ³; Tomáš Nebeský ⁴; Zdeněk Řehák ⁵; Luděk Pour ²; Renata Koukalová ⁵; Marta Krejčí ²; Zdeněk Král ²
Authors place of work: Klinika ústní, čelistní a obličejové chirurgie LF MU a FN Brno, pracoviště Bohunice ¹; Interní hematologická a onkologická klinika LF MU a FN Brno, pracoviště Bohunice ²; Radiodiagnostická oddělení nemocnice Třebíč ³; Ústav patologie LF MU a FN Brno, pracoviště Bohunice ⁴; Radiodiagnostická klinika LF MU a FN Brno, pracoviště Bohunice ⁵; Oddělení PET CT a RECAMO Masarykova onkologického ústavu Brno ⁶
Published in the journal: Vnitř Lék 2020; 66(1): 78-86
Category: Kazuistika

Summary

A case of fibrous dysplasia of the mandible is reported. The condition started with toothache and swelling of the jaw and adjacent portion of the neck. A panoramic jaw radiograph and a CT scan of the jaw revealed mandibular deformation that may have been associated with both osteomyelitis and a tumorous process. Histological examination of the material taken from the mandible and histological study of regional lymph nodes showed fibrous dysplasia of the mandible and inflammatory changes in the regional nodes. An FDG-PET/CT scan showed a single-site form of the disease. After having considered all the information published on the benefit of the bisphosphonate drug class, a decision was made to provide treatment with oral ibandronate in order to reduce pain intensity in the jaw area. If pain reduction with the oral form of the drug is inadequate, we will test the effect of intravenous bisphosphonates on pain intensity at standard doses that we employ in patients with a malignant form of osteolysis. The patient is kept under long-term surveillance at the Department of Oral and Maxillofacial Surgery of the Masaryk University Faculty of Medicine and University Hospital Brno, Bohunice affiliate, because there is a risk of both disease progression and its transformation into sarcoma. The risk of malignant transformation, however, is lower than 1% per year.

Keywords:

fibrous dysplasia – ibandronate – mandible

Zdroje

1. Riminucci M, Fisher LW, Shenker A, et al. Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. The Amer J Pathol 1997; 151: 1587–1600.

2. Riminucci M, Liu B, Corsi A, et al. The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: site-specific patterns and recurrent histological hallmarks. J Pathol 1999; 187: 249–258.

3. Albright FBA, Hampton AO, Smith P. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases. N Engl J Med 1937; 216: 727–746.

4. Parekh SG, Donthineni-Rao R, Ricchetti E, et al. Fibrous dysplasia. The Journal of the American Academy of Orthopaedic Surgeons 2004; 12: 305–313.

5. Ricalde P, Horswell BB. Craniofacial fibrous dysplasia of the fronto-orbital region: a case series and literature review. J Oral Maxillofac Surg 2001; 59:157–167.

6. Wei WJ, Sun ZK, Shen CT, et al. Value of (99m)Tc-MDP SPECT/CT and (18)F-FDG PET/CT scanning in the evaluation of malignantly transformed fibrous dysplasia. Am J Nucl Med Mol Imaging 2017; 7: 92–104.

7. Sasikumar A, Joy A, Pillai MRA, et al. 68Ga-PSMA PET/CT in Osteosarcoma in Fibrous Dysplasia. Clin Nucl Med 2017; 42: 446–447.

8. Pack SE, Al Share AA, Quereshy FA, et al. Osteosarcoma of the Mandible Arising in Fibrous Dysplasia – A Case Report. J Oral Maxillofac Surg 2016; 74: 2229.e1–2229.e4.

9. Qu N, Yao W, Cui X, et al. Malignant transformation in monostotic fibrous dysplasia: clinical features, imaging features, outcomes in 10 patients, and review. Medicine (Baltimore) 2015; 94: e 369.

10. Mardekian SK, Tuluc M. Malignant sarcomatous transformation of fibrous dysplasia. Head Neck Pathol 2015; 9: 100-103.

11. Garg MK, Bhardwaj R, Gupta S, et al. Sarcomatous transformation (Leiomyosarcoma) in polyostotic fibrous dysplagia. Indian J Endocrinol Metab 2013; 17: 1120–1123.

12. Cheng J, Yu H, Wang D, et al. Spontaneous malignant transformation in craniomaxillofacial fibrous dysplasia. J Craniofac Surg 2013; 24: 141–145.

13. Yao Y, Liu Y, Wang L, et al. Clinical characteristics and management of growth hormone excess in patients with McCune-Albright syndrome. Eur J Endocrinol 2017; 176: 295–303.

14. Xu J, Li X, Lv CS, et al. Treatment protocols for growth hormone-secreting pituitary adenomas combined with craniofacial fibrous dysplasia: A case report of atypical McCune-Albright syndrome. Exp Ther Med 2014; 8: 877–880.

15. Madsen H, Borges MT, Kerr JM, et al. McCune-Albright syndrome: surgical and therapeutic challenges in GH-secreting pituitary adenomas. J Neurooncol 2011; 104: 215–224.

16. Řehák Z, Bencsikova B, Zambo I, et al. Fibrous dysplasia presenting as a cold spod in 18FFLT PET/CT Imaging Clinical nuclear med 2016; 41: 5100–5111.

17. Kačerovská D, Němcová J, Pomahačová R, et al. Cutanous and superficial soft tissue lesions associated with Albright hereditary osteodystrophy. Study of 4 cases inscuding novel mutation of GNAS gene. Amer J Dermatopathology 2008; 30: 417–424.

18. Kurinec F, Rudinský B Marinčák L. Chirurgická liečba rozsiahled fibróznes dysplaie v kraniofaicální oblasti. Česká a slovesnká neurologie a neurochir 2016; 79: 723–727.

19. Pečený, J, Šťastný E, Wagenknecht L, et al. Fibrózní dysplazie – patofyziologie a ortopedická léčba. Pediatrie pro praxi 2018; 19: 72–78.

20. Hodan R, Čermákoává R, Syrovátka J, et al. Fibrózní dysplazie u dětského pacienta léčená bisfosfonáty. Česká stomatologie a Praktické zubní lékařství 2008; 56: 48–52.

21. Černá H, Machač J, Šlapák I. Fibrózní dysplázie a cholesteatom. Otorinolaryngologie a foniatrie 2008; 57: 102–104.

22. Zídková H, Kolář J, Matějovský Z. Malignizace, či agresivní růst fibrózní kostní dysplazie? Československá radiologie 1993; 47: 139–149.

23. Chrobok V, Brtková J. Fibrózní dysplazie spánkové kosti (kazuistika). Choroby hlavy a krku 1998; 7: 18–21.

24. Mihál V, Michálková K, Ehrmann J, et al. Fibrózní dysplazie lebky. Pediatrie pro praxi 2013; 14: 58–59.

25. Doležal J. Neobvyklá akumulace 67Galium-citrátu ve fibrózní dysplazii kosti temporální u pacientky s maligním melanomem. Česká radiologie 2010; 64: 266–268.

26. Hrabal P, Kaltofen K, Kostyšyn R, et al. Fibrózní dysplazie žeber a páteře: multioborové řešení – kazuistika. Česká a slovenská neurologie a neurochirurgie 2010; 73: 734–737.

27. Žižiková K. Osteofibrózní dysplazie Campanacci. Československá radiologie 1993; 47: 22–23.

28. Matenalli H, Meisner J. Výskyt fibrózní dysplazie. Československá pediatrie 1994; 49: 441–442.

29. Koudelová, J, Koudela K, Kunešová M, et al. Metafyzární fibrózní defekt. Acta chirurgiae orthopaedicae et traumatologiae Čechoslovaca 2005; 72: 355–362.

30. Heuer L, Hrušák D, Andrle P, et al. Benigní fibrooseální léze čelistních kostí. StomaTeam (Praha) 2011; 11: 19–25.

31. Povýšil C, Matějovský Z, Horák M. Klasický adamantinom, diferencovaný adamantinom a osteofibrózní dysplazie dlouhých kostí. Časopis lékařů českých 2004; 143: 329–335.

32. Mazánek J, Povýšil C, Dobrová M. Neobvyklé klinické obrazy fibrózní dysplazie. Česká stomatologie a Praktické zubní lékařství 1998; 46: 48–62.

33. Širůček P, Hodan R, Havel M. Neobvyklá příčina zduření mandibuly. První linie 2012; 2: 8–9.

34. Statelová D, Sitár J, Stiffel W. Fibrózna dysplázia maxilofaciálneho skeletu. Stomatológ (Martin) 1999; 9: 15–17.

35. Poruban D, Chynoranský M, Kurill E. Fronto-orbito-zygomatiko-maxilárna fibrózna dysplázia - Kazuistika. Stomatológ (Martin) 1999; 9: 37–39.

36. Zídková H, Kolář J, Matějovský Z. Aggressive features of pelvic fibrous dysplasia. RöFo. Fortschritte auf dem Gebiete der Röntgenstrahlen und der neuen bildgebenden Verfahren 1994; 161: 183–185.

37. Ebata K, Usami T, Tohnai I, et al. Chondrosarcoma and osteosarcoma arising in polyostotic fibrous dysplasia. J Oral Maxillofac Surg 1992; 50: 761–764.

38. Kaushik S, Smoker WR, Frable WJ Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma. Skeletal radiology 2002; 31: 103–106.

39. Diniz AF, Filho JA, Alencar RC, et al. Low-grade central osteosarcoma of the mandible: a case study report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007; 103: 246–252.

40. Bertoni F, Fernando Arias L, Alberghini M, et al. Fibrous dysplasia with degenerative atypia: a benign lesion potentially mistaken for sarcoma. Arch Pathol Lab Med 2004; 128: 794–796.

41. Khairallah E, Antonyshyn O, Farb R, et al. Progressive unilateral mandibular swelling in adolescence: a diagnostic dilemma. J Craniofac Surg 1997; 8: 32–37.

42. Ruggieri P, Sim FH, Bond JR, et al. Malignancies in fibrous dysplasia. Cancer 1994; 73: 1411–1424.

43. Plotkin H, Rauch F, Zeitlin L. Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. J Clin Endocrinol Metab 2003; 88: 4569–4575.

44. Matarazzo P, Lala R, Masi G, et al. Pamidronate treatment in bone fibrous dysplasia in children and adolescents with McCune-Albright syndrome. J Pediatr Endocrinol Metab 2002; 15(Suppl. 3): 929–937.

45. Chan B, Zacharin M. Pamidronate treatment of polyostotic fibrous dysplasia: failure to prevent expansion of dysplastic lesions during childhood. J Pediatr Endocrinol Metab 2006; 19: 75–80.

46. Chao K, Katznelson L. Use of high-dose oral bisphosphonate therapy for symptomatic fibrous dysplasia of the skull. Journal of neurosurgery 2008; 109: 889–892.

47. Majoor BC, Appelman-Dijkstra NM, et al. Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia. J Bone Miner Res 2017; 32: 264–276.

48. Florez H, Peris P, Vidal-Sicart S, et al. Lack of scintigraphic response of fibrous dysplasia to bisphosphonate treatment. Rheumatology (Oxford) 2016; 55: 1735.

49. Chapurlat RD, Gensburger D, Jimenez-Andrade JM, et al. Pathophysiology and medical treatment of pain in fibrous dysplasia of bone. Orphanet J Rare Dis 2012; 7(Suppl. 1): S3.

50. Chapurlat RD. Medical therapy in adults with fibrous dysplasia of bone. J Bone Miner Res 2006; 21(Suppl. 2): P114–P119.

51. Kitagawa Y, Tamai K, Ito H. Oral alendronate treatment for polyostotic fibrous dysplasia: a case report. J Orthop Sci 2004; 9: 521–515.

52. Mansoori LS, Catel CP, Rothman MS. Bisphosphonate treatment in polyostotic fibrous dysplasia of the cranium: case report and literature review. Endocr Pract 2010; 16: 851–854.

53. Wu D, Ma J, Bao S, et al. Continuous effect with long-term safety in zoledronic acid therapy for polyostotic fibrous dysplasia with severe bone destruction. Rheumatol Int 2015; 35: 767–772.

54. Benhamou J, Gensburger D, Chapurlat R. Transient improvement of severe pain from fibrous dysplasia of bone with denosumab treatment. Joint Bone Spine 2014; 81: 549–550.

55. Ganda K, Seibel MJ. Rapid biochemical response to denosumab in fibrous dysplasia of bone: report of two cases. Osteoporos Int 2014; 25: 777–782.

56. Boyce AM, Kelly MH, Brillante BA, et al. A randomized, double blind, placebo-controlled trial of alendronate treatment for fibrous dysplasia of bone. J Clin Endocrinol Metab 2014; 99: 4133–4140.

57. Simm PJ, Biggin A, Zacharin MR, et al. Bone Mineral Working Group. Consensus guidelines on the use of bisphosphonate therapy in children and adolescents. J Paediatr Child Health 2018; 54: 223–233.

58. Lee JS, Fitz Gibbon EJ, Chen YR, et al. Collins MT, et al. Clinical guidelines for the management of craniofacial fibrous dysplasia. Orphanet J Rare Dis 2012; 7(Suppl. 1): S2.

59. Povýšil C, et al. Patomorfologie chorob kostí a kloubů. Praha: Galén 2017, 409 s.