A rare combination of polyossal fibrous dysplasia with intraossal arteriovenous fistula in a patient with McCune – Albright syndrome: a clinical case and a literature review

Fibrous dysplasia (FD) is a rare bone disorder in which normal bone tissue is replaced by fibrous tissue. Concomitant vascular abnormalities are described extremely rare. The present observation represents a combination of polyossal FD on the background of McCune – Albright syndrome (MAS) with intraossal arteriovenous skull base fistula. The paper presents pathogenesis of visual disorders, possibility of diagnosing such combined malformations and surgical treatment options.
The aim is to describe a rare clinical observation, to analyze the literature of the FD and vascular developmental abnormalities combination.
The article presents a clinical observation of a patient with polyossal FD on the background of MAS and intraossal arteriovenous fistula.
The presented observation describes a rare combination of polyossal FD on the background of MAS and intraossal arteriovenous fistula, the genesis of the combination of which remains currently unknown. If signs of the aneurysmal bone cyst development appear in patients with FD, it is possible to introduce CT-AG studies into the preoperative study plan and resolve the issue of the need for selective angiographic examination and possible embolization of pathological vessels before open resection of pathological bone tissue. 

1. Riminucci M., Fisher L. W., Shenker A., Spiegel A. M., Bianco P., Gehron Robey P. Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation. Am J Pathol. 1997;151(6):1587–600. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1858361/pdf/amjpathol00024-0085.pdf [Accessed 04 June 2024].

2. Javaid M. K., Boyce A., Appelman-Dijkstra N., Ong J., Defabianis P., Offiah A., Arundel P., Shaw N., Pos V. D., Underhil A., Portero D., Heral L., Heegaard A. M., Masi L., Monsell F., Stanton R., Dijkstra P. D. S., Brandi M. L., Chapurlat R., Hamdy N. A. T., Collins M. T. Best practice management guidelines for fibrous dysplasia/McCuneAlbright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet J Rare Dis. 2019;14(1):139. Doi: 10.1186/s13023-019-1102-9. EDN: FNJWQQ.

3. Kushchayeva Y. S., Kushchayev S. V., Glushko T. Y., Tella S. H., Teytelboym O. M., Collins M. T., Boyce A. M. Fibrous dysplasia for radiologists: beyond ground glass bone matrix. Insights Imaging. 2018;9(6):1035–1056. Doi:10.1007/s13244-018-0666-6. EDN: VKURGG.

4. Selva D., White V. A., O'Connell J. X., Rootman J., Primary bone tumors of the orbit. Surv Ophthalmol. 2004;49(3):328–342. Doi: 10.1016/j.survophthal.2004.02.011.

5. Rozhinskaya L.Ya., Sardaeva D. G., Kalinchenko N. Y., Chukanova A. M., Tarbaeva N. V., Buryakina S. A., Vladimirova V. P., Belaya Z. E., Melnichenko G. A., McCune – Albright syndrome: description of three clinical cases, features of diagnostics and treatment. Osteoporosis and Bone Diseases. 2021;24(3):19–32. Doi:10.14341/osteo12932. EDN: PSREEM.

6. Li Z., Raynald Wang Z., Qian H. Malignant transformation of craniofacial fibrous dysplasia: a systematic review of overall survival. Neurosurg Rev. 2020;43(3):911–921. Doi: 10.1007/s10143-019-01089-1. EDN: DOPUYO.

7. Kelly M. H., Brillante B., Collins M. T. Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions. Osteoporos Int. 2008;19(1):57–63. Doi:10.1007/s00198-007-0425-x. EDN: QXWSMA.

8. Lee J. S., FitzGibbon E., Butman J. A., Dufresne C. R., Kushner H., Wientroub S., Robey P. G., Collins M. T. Normal vision despite narrowing of the optic canal in fibrous dysplasia. N Engl J Med, 2002;347(21):1670–1676. Doi: 10.1056/NEJMoa020742.

9. Scuderi G., Nucci C., Laghi A., Corsi A., Cerulli L. A rare case of McCune-Albright syndrome associated with glaucoma retinal degeneration and arteriovenous malformations. Eye (Lond). 1996;10(Pt 6):752–755. Doi: 10.1038/eye.1996.178.

10. MacErlean D. P., Shanik D. G., Martin E. A. Transcatheter embolisation of bone tumour arteriovenous malformations. Br J Radiol. 1978;51(606):414–419. Doi: 10.1259/0007-1285-51-606-414.

11. Huang X., An J., Zhang Y., Cai Z. Intraosseous Venous Malformations of the Zygoma: Report of 4 Cases and Literature Review. Ann Otol Rhinol Laryngol. 2017;126(6):505–509. Doi: 10.1177/0003489417701934.

12. Pan K. S., de Castro L. F., Roszko K. L., Greenberg E. D., FitzGibbon E. J., Dufresne C. R., Boyce A. M., Collins M. T. Successful Intravascular Treatment of an Intraosseous Arteriovenous Fistula in Fibrous Dysplasia. Calcif Tissue Int. 2020;107(2):195–200. Doi: 10.1007/s00223-020-00712-4.

13. Ohshika S., Yanagisawa M., Tsushima F., Ishibashi Y. Diagnosis and conservative treatment of a rare case of femoral intraosseous arteriovenous malformation in a patient with polyostotic fibrous dysplasia: A case report. Mol Clin Oncol. 2019;10(6):587–591. Doi: 10.3892/mco.2019.1845.

14. Ishiguro S., Ikeda M., Shimizu H., Hayashi M. Arteriovenous fistula as an unusual complication of polyostotic fibrous dysplasia of the skull. Surg Neurol. 1985;24(6):681–684. Doi: 10.1016/0090-3019(85)90132-6.

15. Settecase F., Nicholson A. D., Amans M. R., Higashida R. T., Halbach V. V., Cooke D. L., Dowd C. F., Hetts S. W. Onyx embolization of an intraosseous pseudoaneurysm of the middle meningeal artery in a patient with meningiomatosis, McCune-Albright syndrome, and gray platelet syndrome. J Neurosurg Pediatr. 2016;17(3):324–329. Doi: 10.3171/2015.9.PEDS15267. EDN: WQKINF.

16. Song X., Li Z. Co-existing of craniofacial fibrous dysplasia and cerebrovascular diseases: a series of 22 cases and review of the literature. Orphanet J Rare Dis. 2021;16(1): 471. Doi: 10.1186/s13023-021-02102-x. EDN: ITNFOW.

17. Leet A. I., Boyce A. M., Ibrahim K. A., Wientroub S., Kushner H., Collins M. T. Bone-Grafting in Polyostotic Fibrous Dysplasia. J Bone Joint Surg Am. 2016;98(3):211–219. Doi: 10.2106/jbjs.o.00547.

18. Sassin J. F., Rosenberg R. N. Neurological complications of fibrous dysplasia of the skull. Arch Neurol. 1968;18(4):363–369. Doi:10.1001/archneur.1968.00470340049004.

19. Edgerton M. T., Persing J. A., Jane J. A. The surgical treatment of fibrous dysplasia. With emphasis on recent contributions from cranio-maxillo-facial surgery. Ann Surg. 1985;202(4):459–479. Doi: 10.1097/00000658-198510000-00007.

20. Katz B. J., Nerad J. A. Ophthalmic manifestations of fibrous dysplasia: a disease of children and adults. Ophthalmology. 1998;105(12):2207–2215. Doi: 10.1016/s0161-6420(98)91217-9.

21. Liakos G. M., Walker C. B., Carruth J. A. Ocular complications in craniofacial fibrous dysplasia. Br J Ophthalmol. 1979;63(9):611–616. Doi: 10.1136/bjo.63.9.611.

22. Steel D. H., Potts M. J. Bilateral sudden visual loss in Albright’s syndrome. Br J Ophthalmol. 1995;79(12):1149. Doi: 10.1136/bjo.79.12.1149-a.

23. Weisman J. S., Hepler R. S., Vinters H. V. Reversible visual loss caused by fibrous dysplasia. Am J Ophthalmol. 1990;110(3):244–249. Doi: 10.1016/s0002-9394(14)76338-x.

24. Kurokawa Y., Sohma T., Tsuchita H., Kitami K., Suzuki S., Sohma K. Hemorrhage into fibrous dysplasia following minor head injury-effective decompression for the ophthalmic artery and optic nerve. Surg Neurol. 1989;32(6):421–426. Doi: 10.1016/0090-3019(89)90004-9.

25. Saito K., Suzuki Y., Nehashi K., Sugita K. Unilateral extradural approach for bilateral optic canal release in a patient with fibrous dysplasia. Surg Neurol. 1990;34(2):124–128. Doi: 10.1016/0090-3019(90)90108-2.

26. Arroyo J. G., Lessell S., Montgomery W. W. Steroid-induced visual recovery in fibrous dysplasia. J Clin Neuroophthalmol. 1991;11(4):59–61.

27. Bland L. I., Marchese M. J., McDonald J. V. Acute monocular blindness secondary to fibrous dysplasia of the skull: a case report. Ann Ophthalmol. 1992;24(7):263–266.

28. Osguthorpe J. D., Gudeman S. K. Orbital complications of fibrous dysplasia. Otolaryngol Head Neck Surg. 1987;97(4):403–405. Doi: 10.1177/019459988709700412.

29. Chen Y. R., Breidahl A., Chang C. N. Optic nerve decompression in fibrous dysplasia: indications, efficacy, and safety. Plast Reconstr Surg. 1997;99(1):22–30. Doi: 10.1097/00006534-199701000-00004.

30. Boyce A. M., Glover M., Kelly M. H., Brillante B. A., Butman J. A., Fitzgibbon E. J., Brewer C. C., Zalewski C. K., Cutler Peck C. M., Kim H. J., Collins M. T. Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess. J Clin Endocrinol Metab. 2013;98(1):E126–34. Doi: 10.1210/jc.2012-2111.

31. Hart E. S., Kelly M. H., Brillante B., Chen C. C., Ziran N., Lee J. S., Feuillan P., Leet A. I., Kushner H., Robey P. G., Collins M. T. Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. J Bone Miner Res. 2007;22(9):1468–1474. Doi: 10.1359/jbmr.070511.

32. Szymczuk V., Taylor J., Michel Z., Sinaii N., Boyce A. M. Skeletal Disease Acquisition in Fibrous Dysplasia: Natural History and Indicators of Lesion Progression in Children. J Bone Miner Res. 2022;37(8):1473–1478. Doi: 10.1002/jbmr.4618. EDN: BMIICC.

33. Pan K. S., Taylor J., Szymczuk V., Boyce A. M. Lesion Expansion in Gnathic Fibrous Dysplasia: Natural History, Indicators of Progression, and Response to Bisphosphonates. J Bone Miner Res. 2023;38(10):1465–1471. Doi: 10.1002/jbmr.4886.

34. Hartley I., Zhadina M., Collins M. T., Boyce A. M. Fibrous Dysplasia of Bone and McCune-Albright Syndrome: A Bench to Bedside Review. Calcif Tissue Int. 2019;104(5):517–529. Doi: 10.1007/s00223-019-00550-z. EDN: JVBHYA.

35. Jaffe H. L. Fibrous Dysplasia of Bone. Bull N Y Acad Med. 1946;22(11):588–604.

36. Fries J. W. The roentgen features of fibrous dysplasia of the skull and facial bones; a critical analysis of thirtynine pathologically proved cases. Am J Roentgenol Radium Ther Nucl Med. 1957;77(1):71–88.

37. Martinez V., Sissons H. A. Aneurysmal bone cyst. A review of 123 cases including primary lesions and those secondary to other bone pathology. Cancer. 1988;61(11):2291–304. Doi: 10.1002/1097-0142(19880601)61:11<2291::aidcncr2820611125>3.0.co;2-v.

38. Chen Y. R., Wong F. H., Hsueh C., Lo L. J. Computed tomography characteristics of non-syndromic craniofacial fibrous dysplasia. Chang Gung Med J. 2002;25(1):1–8.

39. Ferretti C., Coleman H., Dent M., Altini M. Cystic degeneration in fibrous dysplasia of the jaws: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999;88(3):337–342. Doi: 10.1016/s1079-2104(99)70039 9.

40. Hillerup S., Hjørting-Hansen E. Aneurysmal bone cystsimple bone cyst, two aspects of the same pathologic entity? Int J Oral Surg. 1978;7(1):16–22. Doi: 10.1016/s0300-9785(78)80005-2.

41. Boyce A. M., Collins M. T. Fibrous Dysplasia/McCuneAlbright Syndrome: A Rare, Mosaic Disease of Gαs Activation. Endocr Rev. 2020;41(2):345–370. Doi: 10.1210/endrev/bnz011.

42. Buraczewski J., Dabska M. Pathogenesis of aneurysmal bone cyst. Relationship between the aneurysmal bone cyst and fibrous dysplasia of bone. Cancer. 1971;28(3):597–604. Doi:10.1002/1097-0142(197109)28:3<597::aidcncr2820280311>3.0.co;2-i.

43. Boyce A. M., Burke A., Cutler Peck C., DuFresne C. R., Lee J. S., Collins M. T. Surgical Management of Polyostotic Craniofacial Fibrous Dysplasia: Long-Term Outcomes and Predictors for Postoperative Regrowth. Plast Reconstr Surg. 2016.;137(6):1833–1839. Doi: 10.1097/prs.0000000000002151.

44. McIntosh H. D., Miller D. E., Gleason W. L., Goldner J. L. The circulatory dynamics of polyostotic fibrous dysplasia. The American Journal of Medicine. 1962;32(3): 393–403. Doi: 10.1016/0002-9343(62)90129-8.

45. Ippolito E., Bray E. W., Corsi A., De Maio F., Exner U. G., Robey P. G., Grill F., Lala R., Massobrio M., Pinggera O., Riminucci M., Snela S., Zambakidis C., Bianco P. Natural history and treatment of fibrous dysplasia of bone: a multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society. J Pediatr Orthop B. 2003;12(3):155–177. Doi:10.1097/01.bpb.0000064021.41829.94.

46. Biesecker J. L., Marcove R. C., Huvos A. G., Miké V. Aneurysmal bone cysts. A clinicopathologic study of 66 cases. Cancer. 1970;26(3):615–25. Doi: 10.1002/1097-0142(197009)26:3<615::aid-cncr2820260319>3.0.co;2-i.

47. Lindbom A., Soderberg G., Spjut H. J., Sunnqvist O. Angiography of aneurysmal bone cyst. Acta radiol. 1961;(55):12–16. Doi: 10.3109/00016926109173812.

48. Lin J. P., Goodkin R., Chase N. E., Kricheff I. I. The angiographic features of fibrous dysplasia of the skull. Radiology. 1969;92(6):1275–1280. Doi: 10.1148/92.6.1275.

49. Papay F. A., Morales L. Jr., Flaharty P., Smith S. J., Anderson R., Alker J. M., Hood R. S., Hardy S. Optic nerve decompression in cranial base fibrous dysplasia. J Craniofac Surg, 1995;6(1):5–10. Doi: 10.1097/00001665-199501000-00004.

50. Lee J. S., FitzGibbon E. J., Chen Y. R., Kim H. J., Lustig L. R., Akintoye S. O., Collins M. T., Kaban L. B. Clinical guidelines for the management of craniofacial fibrous dysplasia. Orphanet J Rare Dis. 2012;7 Suppl 1(Suppl 1):S2. Doi: 10.1186/1750-1172-7-s1-s2.

51. Park J. W., Jung J. H., Park S. J., Lim S. Y. Evaluation of natural growth rate and recommended age for shaving procedure by volumetric analysis of craniofacial fibrous dysplasia. Head Neck. 2020;42(10):2863–2871. Doi: 10.1002/hed.26337.

52. Raborn L. N., Pan K. S., FitzGibbon E. J., Collins M. T., Boyce A. M. Optic disc edema in fibrous dysplasia/Mc Cune-Albright syndrome: Prevalence, etiologies, and clinical implications. Bone. 2021;(143):115661. Doi: 10.1016/j.bone.2020.115661.

53. Michael C. B., Lee A. G., Patrinely J. R., Stal S., Black lock J. B. Visual loss associated with fibrous dysplasia of the anterior skull base. Case report and review of the literature. J Neurosurg. 2000;92(2):350–354. Doi: 10.3171/jns.2000.92.2.0350.

54. Theng E. H., German A., Pan K. S., Isaac S., Boyce A. M., Collins M. T. Periorbital inflammation associated with craniofacial fibrous dysplasia: Report of three cases and review of the literature. Bone. 2021;(153):116157. Doi: 10.1016/j.bone.2021.116157.