History and Physical Examination

Pain is a common sign of fibrous dysplasia in symptomatic patients.^[17] Most commonly, patients are asymptomatic. Patients usually seek medical care because of either painful swelling and deformity or a pathologic fracture through a weakened bone. Long bones are commonly affected. The femur is the most common location; other sites typically affected are the tibia, maxilla, and skull.

Nonskeletal manifestations include abnormal cutaneous pigmentation, precocious puberty, hyperthyroidism, Cushing disease, hyperparathyroidism, and hypophosphatemic rickets. McCune-Albright syndrome is defined as the triad of precocious puberty, polyostotic fibrous dysplasia, and cutaneous pigmentation. Typically, only females are affected by precocious puberty,^[19] but the other endocrine abnormalities occur equally in males and females. All of these abnormalities are thought to be due to the same underlying mutation.

Complications

Fracture is the most common complication of fibrous dysplasia. In polyostotic disease, fracture occurs in more than 50% of cases.

Deformity may occur in weightbearing bones.

Malignant transformation occurs in fewer than 0.5% of cases. It is more likely to occur when polyostotic disease exists or after treatment with radiation therapy. Typically, malignant transformation occurs during the third or fourth decade of life.^[14] Benign tumors have also been associated with fibrous dysplasia.^[20]

Patients with McCune-Albright syndrome have a high incidence of scoliosis (probably exceeding 50%).^[10]

Workup

Lichtenstein L, Jaffe HL. Fibrous dysplasia of bone: a condition affecting one, several or many bones, the graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch Pathol. 1942. 33:777-816.
Florez H, Peris P, Guañabens N. Fibrous dysplasia. Clinical review and therapeutic management. Med Clin (Barc). 2016 Dec 16. 147 (12):547-553. [QxMD MEDLINE Link].
Tafti D, Cecava ND. Fibrous Dysplasia. Treasure Island, FL: StatPearls; 2022. [Full Text].
Albright F, Butler AM, Hampton AO. Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. N Engl J Med. 1937. 216:727-46.
Fraser WD, Walsh CA, Birch MA, Durham B, Dillon JP, McCreavy D, et al. Parathyroid hormone-related protein in the aetiology of fibrous dysplasia of bone in the McCune Albright syndrome. Clin Endocrinol (Oxf). 2000 Nov. 53 (5):621-8. [QxMD MEDLINE Link].
Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD. Fibrous dysplasia. J Am Acad Orthop Surg. 2004 Sep-Oct. 12 (5):305-13. [QxMD MEDLINE Link].
Santos CT, Choo CT, Loh AH. Orbital fibrous dysplasia with soft tissue hamartoma--a variant of Mazabraud's syndrome. Orbit. 2008. 27 (3):207-9. [QxMD MEDLINE Link].
Chapurlat RD, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol. 2008 Mar. 22 (1):55-69. [QxMD MEDLINE Link].
Alman BA, Greel DA, Wolfe HJ. Activating mutations of Gs protein in monostotic fibrous lesions of bone. J Orthop Res. 1996 Mar. 14 (2):311-5. [QxMD MEDLINE Link].
DiCaprio MR, Enneking WF. Fibrous dysplasia. Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am. 2005 Aug. 87 (8):1848-64. [QxMD MEDLINE Link].
Marie P. Dysplasie fibreuse: aspects tissulaires, cellulaires et moléculaires. Revue du Rhumatisme. 2003. 7:681-6.
Ippolito E, Bray EW, Corsi A, De Maio F, Exner UG, Robey PG, et al. 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 May. 12 (3):155-77. [QxMD MEDLINE Link].
Ruggieri P, Sim FH, Bond JR, Unni KK. Malignancies in fibrous dysplasia. Cancer. 1994 Mar 1. 73 (5):1411-24. [QxMD MEDLINE Link].
Yabut SM Jr, Kenan S, Sissons HA, Lewis MM. Malignant transformation of fibrous dysplasia. A case report and review of the literature. Clin Orthop Relat Res. 1988 Mar. 228:281-9. [QxMD MEDLINE Link].
Marie PJ, de Pollak C, Chanson P, Lomri A. Increased proliferation of osteoblastic cells expressing the activating Gs alpha mutation in monostotic and polyostotic fibrous dysplasia. Am J Pathol. 1997 Mar. 150 (3):1059-69. [QxMD MEDLINE Link]. [Full Text].
Benhamou J, Gensburger D, Messiaen C, Chapurlat R. Prognostic Factors From an Epidemiologic Evaluation of Fibrous Dysplasia of Bone in a Modern Cohort: The FRANCEDYS Study. J Bone Miner Res. 2016 Dec. 31 (12):2167-2172. [QxMD MEDLINE Link].
Guille JT, Kumar SJ, MacEwen GD. Fibrous dysplasia of the proximal part of the femur. Long-term results of curettage and bone-grafting and mechanical realignment. J Bone Joint Surg Am. 1998 May. 80 (5):648-58. [QxMD MEDLINE Link].
Sweeney K, Kaban LB. Natural History and Progression of Craniofacial Fibrous Dysplasia: A Retrospective Evaluation of 114 Patients From Massachusetts General Hospital. J Oral Maxillofac Surg. 2020 Nov. 78 (11):1966-1980. [QxMD MEDLINE Link].
McCune DJ. Osteitis fibrosa cystica: the case of a nine year old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Child. 1936. 52:743-747.
Bridge JA, Rosenthal H, Sanger WG, Neff JR. Desmoplastic fibroma arising in fibrous dysplasia. Chromosomal analysis and review of the literature. Clin Orthop Relat Res. 1989 Oct. 247:272-8. [QxMD MEDLINE Link].
Lietman SA, Ding C, Levine MA. A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia. J Bone Joint Surg Am. 2005 Nov. 87 (11):2489-94. [QxMD MEDLINE Link].
Liens D, Delmas PD, Meunier PJ. Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. Lancet. 1994 Apr 16. 343 (8903):953-4. [QxMD MEDLINE Link].
Murray DJ, Edwards G, Mainprize JG, Antonyshyn O. Advanced technology in the management of fibrous dysplasia. J Plast Reconstr Aesthet Surg. 2008 Aug. 61 (8):906-16. [QxMD MEDLINE Link].
Li P, Zhang ZR, Jiang Y, Xia XD, Wang D, Li XF. MR and CT findings of cyst degeneration of sphenoid bone in McCune-Albright syndrome: a case report. Cases J. 2009 Dec 22. 2:9376. [QxMD MEDLINE Link]. [Full Text].
Zhang L, He Q, Li W, Zhang R. The value of ^99mTc-methylene diphosphonate single photon emission computed tomography/computed tomography in diagnosis of fibrous dysplasia. BMC Med Imaging. 2017 Jul 24. 17 (1):46. [QxMD MEDLINE Link]. [Full Text].
Ferreira EC, Brito CC, Domingues RC, Bernardes M, Marchiori E, Gasparetto EL. Whole-body MR imaging for the evaluation of McCune-albright syndrome. J Magn Reson Imaging. 2010 Mar. 31 (3):706-10. [QxMD MEDLINE Link].
Kinnunen AR, Sironen R, Sipola P. Magnetic resonance imaging characteristics in patients with histopathologically proven fibrous dysplasia-a systematic review. Skeletal Radiol. 2020 Jun. 49 (6):837-845. [QxMD MEDLINE Link]. [Full Text].
Fusconi M, Conte M, Pagliarella M, De Vincentiis C, De Virgilio A, Benincasa AT, et al. Fibrous dysplasia of the maxilla: diagnostic reliability of the study image. Literature review. J Neurol Surg B Skull Base. 2013 Dec. 74 (6):364-8. [QxMD MEDLINE Link]. [Full Text].
Zhang X, Chen C, Duan H, Tu C. Radiographic classification and treatment of fibrous dysplasia of the proximal femur: 227 femurs with a mean follow-up of 6 years. J Orthop Surg Res. 2015 Nov 16. 10:171. [QxMD MEDLINE Link]. [Full Text].
Stanton RP, Diamond L. Surgical management of fibrous dysplasia in McCune-Albright syndrome. Pediatr Endocrinol Rev. 2007 Aug. 4 Suppl 4:446-52. [QxMD MEDLINE Link].
Kumta SM, Leung PC, Griffith JF, Kew J, Chow LT. Vascularised bone grafting for fibrous dysplasia of the upper limb. J Bone Joint Surg Br. 2000 Apr. 82 (3):409-12. [QxMD MEDLINE Link].
Dalle Carbonare M, Manisali M. Surgical management of syndromic versus non-syndromic craniofacial fibrous dysplasia: a systematic review and meta-analysis. Br J Oral Maxillofac Surg. 2022 Jun 16. [QxMD MEDLINE Link].
Chapurlat RD, Hugueny P, Delmas PD, Meunier PJ. Treatment of fibrous dysplasia of bone with intravenous pamidronate: long-term effectiveness and evaluation of predictors of response to treatment. Bone. 2004 Jul. 35 (1):235-42. [QxMD MEDLINE Link].
Zacharin M, O'Sullivan M. Intravenous pamidronate treatment of polyostotic fibrous dysplasia associated with the McCune Albright syndrome. J Pediatr. 2000 Sep. 137 (3):403-9. [QxMD MEDLINE Link].
DiMeglio LA. Bisphosphonate therapy for fibrous dysplasia. Pediatr Endocrinol Rev. 2007 Aug. 4 Suppl 4:440-5. [QxMD MEDLINE Link].
Majoor BC, Appelman-Dijkstra NM, Fiocco M, van de Sande MA, Dijkstra PS, Hamdy NA. Outcome of Long-Term Bisphosphonate Therapy in McCune-Albright Syndrome and Polyostotic Fibrous Dysplasia. J Bone Miner Res. 2017 Feb. 32 (2):264-276. [QxMD MEDLINE Link].
Wang Y, Wang O, Jiang Y, Li M, Xia W, Meng X, et al. EFFICACY AND SAFETY OF BISPHOSPHONATE THERAPY IN MCCUNE-ALBRIGHT SYNDROME-RELATED POLYOSTOTIC FIBROUS DYSPLASIA: A SINGLE-CENTER EXPERIENCE. Endocr Pract. 2019 Jan. 25 (1):23-30. [QxMD MEDLINE Link].
Huzum B, Antoniu S, Dragomir R. Treatment of fibrous dysplasia: focus on denosumab. Expert Opin Biol Ther. 2022 Mar. 22 (3):397-405. [QxMD MEDLINE Link].
Hung C, Shibli-Rahhal A. Denosumab Use in Adults With Fibrous Dysplasia: Case Reports and Review of the Literature. Endocr Pract. 2022 Aug 8. [QxMD MEDLINE Link].
Kim YH, Song JJ, Choi HG, Lee JH, Oh SH, Chang SO, et al. Role of surgical management in temporal bone fibrous dysplasia. Acta Otolaryngol. 2009 Dec. 129 (12):1374-9. [QxMD MEDLINE Link].
Ippolito E, Farsetti P, Caterini R, Micciulli E, Gorgolini G, Ruzzini L. Intramedullary Nailing for Lower Limb Polyostotic Fibrous Dysplasia in Children: A Long-term Follow-up Study. J Pediatr Orthop. 2022 May-Jun 01. 42 (5):e492-e500. [QxMD MEDLINE Link].
Tomasik P, Spindel J, Miszczyk L, Chrobok A, Koczy B, Widuchowski J, et al. Surgical treatment of dysplasia fibrosa and defectus fibrosus with bone allografts. Ortop Traumatol Rehabil. 2010 Jan-Feb. 12 (1):58-66. [QxMD MEDLINE Link].
Popkov A, Aranovich A, Antonov A, Journeau P, Lascombes P, Popkov D. Lower limb lengthening and deformity correction in polyostotic fibrous dysplasia using external fixation and flexible intramedullary nailing. J Orthop. 2020 Sep-Oct. 21:192-198. [QxMD MEDLINE Link].
Garceau S, Warschawski Y, Safir O, Gross A, Wolfstadt J, Kuzyk P. Total hip arthroplasty in patients with fibrous dysplasia: a modern update. Can J Surg. 2020 May 1. 63 (3):E202-E207. [QxMD MEDLINE Link]. [Full Text].
Gui H, Zhang S, Shen SG, Wang X, Bautista JS, Voss PJ. Real-time image-guided recontouring in the management of craniofacial fibrous dysplasia. Oral Surg Oral Med Oral Pathol Oral Radiol. 2013 Dec. 116 (6):680-5. [QxMD MEDLINE Link].
Tham T, Costantino P, Bruni M, Langer D, Boockvar J, Singh P. Multiportal Combined Transorbital and Transnasal Endoscopic Resection of Fibrous Dysplasia. J Neurol Surg Rep. 2015 Nov. 76 (2):e291-6. [QxMD MEDLINE Link]. [Full Text].

Media Gallery

Intermediate-power view of typical histology of fibrous dysplasia. Note the bland fibrous stromal tissue with islands of disorganized, immature osteoid. A key feature is the absence of rimming osteoblasts around the osteoid. While not present in this slide, foci of cartilage also may occasionally be present.
Plain radiograph of a tibia in a patient who is skeletally mature, demonstrating expansion of the metaphysis and diaphysis, endosteal scalloping, and a ground-glass appearance of the matrix.
Technetium-99m methylene diphosphonate (MDP) bone scan demonstrating increased uptake in the tibia corresponding to the radiographic margins.
CT scan of the tibia demonstrating expansion of the tibia due to an expanding intramedullary lesion.
A T1-weighted MRI image demonstrating intermediate signal intensity and no soft tissue component.
A T2-weighted MRI image demonstrating increased signal intensity of the matrix of the lesion.
The metaplastic bone formed by fibrous dysplasia has the appearance of Chinese letters.