fibrous dysplasia of bone

Summary

Summary: A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).

Top Publications

  1. Chapurlat R, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol. 2008;22:55-69 pubmed publisher
    b>Fibrous dysplasia of bone is a genetic, non-inheritable disease, characterized by bone pain, bone deformities and fracture, involving one or several bones...
  2. Dujardin F, Binh M, Bouvier C, Gomez Brouchet A, Larousserie F, Muret A, et al. MDM2 and CDK4 immunohistochemistry is a valuable tool in the differential diagnosis of low-grade osteosarcomas and other primary fibro-osseous lesions of the bone. Mod Pathol. 2011;24:624-37 pubmed publisher
  3. Worawongvasu R, Songkampol K. Fibro-osseous lesions of the jaws: an analysis of 122 cases in Thailand. J Oral Pathol Med. 2010;39:703-8 pubmed publisher
    ..The aims of this study were to determine the relative frequencies and the clinicopathologic features of these lesions in Thailand, and to compare these data with information available in the literature...
  4. Tabrizi R, Ozkan B. Craniofacial fibrous dysplasia of orbit. J Craniofac Surg. 2008;19:1532-7 pubmed publisher
    ..Early surgery to address progressive sensory disturbance is recommended so as to avoid the hazards of late-stage decompression...
  5. Eller R, Sillers M. Common fibro-osseous lesions of the paranasal sinuses. Otolaryngol Clin North Am. 2006;39:585-600, x pubmed
    ..They have similar appearance and makeup; however, their clinical implications vary. This article focuses primarily on sinonasal osteomas, with less emphasis on fibrous dysplasia and ossifying fibroma...
  6. Amit M, Collins M, Fitzgibbon E, Butman J, Fliss D, Gil Z. Surgery versus watchful waiting in patients with craniofacial fibrous dysplasia--a meta-analysis. PLoS ONE. 2011;6:e25179 pubmed publisher
    ..Our objective was to compare the long-term outcome of patients with optic nerve compression (ONC) due to craniofacial fibrous dysplasia (CFD) who either underwent surgery or were managed expectantly...
  7. Mancini F, Corsi A, De Maio F, Riminucci M, Ippolito E. Scoliosis and spine involvement in fibrous dysplasia of bone. Eur Spine J. 2009;18:196-202 pubmed publisher
  8. Diniz A, Filho J, Alencar R, Garcia R, Silva M, Ribeiro Rotta R, et al. Low-grade central osteosarcoma of the mandible: a case study report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;103:246-52 pubmed
    ..Clinicians should be aware of these lesions, because histopathologicially low-grade central osteosarcoma may be misinterpreted as fibrous dysplasia...
  9. Chapurlat R. Medical therapy in adults with fibrous dysplasia of bone. J Bone Miner Res. 2006;21 Suppl 2:P114-9 pubmed
    In open studies, bisphosphonate therapy (pamidronate, alendronate) reduced bone pain associated with fibrous dysplasia of bone and was associated to some radiological improvement...

More Information

Publications64

  1. Cutler C, Lee J, Butman J, Fitzgibbon E, Kelly M, Brillante B, et al. Long-term outcome of optic nerve encasement and optic nerve decompression in patients with fibrous dysplasia: risk factors for blindness and safety of observation. Neurosurgery. 2006;59:1011-7; discussion 1017-8 pubmed
    ..Uncertainty exists as to the management of FD involving the optic nerves. In an effort to clarify management, the authors studied a large population of patients...
  2. Akintoye S, Kelly M, Brillante B, Cherman N, Turner S, Butman J, et al. Pegvisomant for the treatment of gsp-mediated growth hormone excess in patients with McCune-Albright syndrome. J Clin Endocrinol Metab. 2006;91:2960-6 pubmed
    ..These same mutations are found in approximately one third of the sporadic cases of acromegaly...
  3. Rojas R, Palacios E, Kaplan J, Wong L. Fibrous dysplasia of the frontal sinus. Ear Nose Throat J. 2004;83:14-5 pubmed
  4. Fujimoto A, Tsuboi K, Ishikawa E, Nose H, Nose T. Surgery improves vision and cosmetic appearance of an adult patient with fibrous dysplasia of the frontal bone. J Clin Neurosci. 2004;11:95-7 pubmed
    ..Surgical indication and neuroradiological findings of cranial FD are discussed as well as a review of the literatures...
  5. Sharma R, Mahapatra A, Pawar S, Lad S, Athale S, Musa M. Symptomatic cranial fibrous dysplasias: clinico-radiological analysis in a series of eight operative cases with follow-up results. J Clin Neurosci. 2002;9:381-90 pubmed
    ..The authors present the results of an analysis of eight surgically treated cases of symptomatic cranial fibrous dysplasias along with their long-term outcome and the lessons learnt from this series...
  6. Chang C, Wu K, Tiu C, Hwang B. Fibrous dysplasia of mandible with chronic osteomyelitis in a child: report of one case. Acta Paediatr Taiwan. 2002;43:354-7 pubmed
    ..When a patient with mandibular FD has acute symptoms, the possibility of superimposed OM or malignant change should be considered...
  7. Hoshi M, Matsumoto S, Manabe J, Tanizawa T, Shigemitsu T, Izawa N, et al. Malignant change secondary to fibrous dysplasia. Int J Clin Oncol. 2006;11:229-35 pubmed
    ..Malignant change in fibrous dysplasia (FD) is very rare. This study was carried out to establish some characteristic clinical information about this disorder...
  8. Mattei T, Mattei J, Ramina R, Aguiar P. Fibrous dysplasia in combination with aneurysmal bone cyst presenting as a subarachnoid haemorrhage. Neurol Sci. 2005;26:178-81 pubmed
    ..We also present a critical literature review of diagnostic methods and therapeutical options for both ABC and FD, with emphasis on controversial topics surrounding these issues...
  9. Collins M, Kushner H, Reynolds J, Chebli C, Kelly M, Gupta A, et al. An instrument to measure skeletal burden and predict functional outcome in fibrous dysplasia of bone. J Bone Miner Res. 2005;20:219-26 pubmed
    ..Childhood scores predict adult ambulatory status, and scores were unaffected when bone markers decreased with bisphosphonate treatment or aging...
  10. Chao K, Katznelson L. Use of high-dose oral bisphosphonate therapy for symptomatic fibrous dysplasia of the skull. J Neurosurg. 2008;109:889-92 pubmed publisher
    ..High-dose oral bisphosphonate therapy is an alternative therapeutic option for the palliative treatment of patients with fibrous dysplasia of the skull...
  11. Riminucci M, Robey P, Saggio I, Bianco P. Skeletal progenitors and the GNAS gene: fibrous dysplasia of bone read through stem cells. J Mol Endocrinol. 2010;45:355-64 pubmed publisher
    Activating mutations of the GNAS gene, which causes fibrous dysplasia of bone (FD), lead to remarkable changes in the properties of skeletal progenitors, and it is these changes that mediate the pathological effect of this gene on bone...
  12. Riminucci M, Kuznetsov S, Cherman N, Corsi A, Bianco P, Gehron Robey P. Osteoclastogenesis in fibrous dysplasia of bone: in situ and in vitro analysis of IL-6 expression. Bone. 2003;33:434-42 pubmed
    b>Fibrous dysplasia of bone (FD) is caused by somatic mutations of the GNAS1 gene, which lead to constitutive activation of adenylyl cyclase and overproduction of cAMP in osteogenic cells...
  13. Su M, Tian R, Fan Q, Tian Y, Li F, Li L, et al. Recognition of fibrous dysplasia of bone mimicking skeletal metastasis on 18F-FDG PET/CT imaging. Skeletal Radiol. 2011;40:295-302 pubmed publisher
    b>Fibrous dysplasia of bone (FDB) reveals intense 18F-FDG uptake mimicking metastases on 18F-FDG PET/CT. We reviewed sites of FDB revealed by 18F-FDG PET/CT imaging to allow identification of this abnormality.
  14. Riminucci M, Collins M, Fedarko N, Cherman N, Corsi A, White K, et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest. 2003;112:683-92 pubmed
    ..Renal phosphate wasting occurs in approximately 50% of patients with McCune-Albright syndrome (MAS) and fibrous dysplasia of bone (FD), which result from postzygotic mutations of the GNAS1 gene...
  15. Vegas Bustamante E, Gargallo Albiol J, Berini Aytés L, Gay Escoda C. Benign fibro-osseous lesions of the maxillas: analysis of 11 cases. Med Oral Patol Oral Cir Bucal. 2008;13:E653-6 pubmed
    ..A study is made of the principal characteristics of the oral lesions biopsied in our Service of Oral Surgery and histologically diagnosed as corresponding to fibro-osseous lesions of the maxillas...
  16. Kuznetsov S, Cherman N, Riminucci M, Collins M, Robey P, Bianco P. Age-dependent demise of GNAS-mutated skeletal stem cells and "normalization" of fibrous dysplasia of bone. J Bone Miner Res. 2008;23:1731-40 pubmed publisher
    We studied the role of somatic mosaicism in fibrous dysplasia of bone (FD) within the context of skeletal ("mesenchymal") stem cells by assessing the frequency of mutated colony forming unit-fibroblasts (CFU-Fs) from FD lesions,..
  17. Hannon T, Noonan K, Steinmetz R, Eugster E, Levine M, Pescovitz O. Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone?. J Pediatr. 2003;142:532-8 pubmed
    ..is characterized by a clinical triad of endocrinopathies, café au lait pigmentation, and polyostotic fibrous dysplasia of bone. We hypothesized that children diagnosed with fibrous dysplasia are not routinely being evaluated for ..
  18. Składzieriń J, Oles K, Zagolski O, Moskała M, Sztuka M, Strek P, et al. A giant cranial aneurysmal bone cyst associated with fibrous dysplasia. B-ENT. 2008;4:29-33 pubmed
    ..The patient's recovery was complete. A large facial aneurysmal bone cyst can damage the facial skeleton and skull base, and requires excision by a combined external approach...
  19. Robey P, Kuznetsov S, Riminucci M, Bianco P. The role of stem cells in fibrous dysplasia of bone and the Mccune-Albright syndrome. Pediatr Endocrinol Rev. 2007;4 Suppl 4:386-94 pubmed
    ..b>Fibrous dysplasia of bone and the McCune-Albright Syndrome evolve from activating missense mutations in Gsalpha in pluripotent ..
  20. Itshayek E, Spector S, Gomori M, Segal R. Fibrous dysplasia in combination with aneurysmal bone cyst of the occipital bone and the clivus: case report and review of the literature. Neurosurgery. 2002;51:815-7; discussion 817-8 pubmed
    ..It is important to recognize and treat these cases properly because of the special location in the cranial base and the possibility of neural structure impingement...
  21. Chen Y, Wong F, Hsueh C, Lo L. Computed tomography characteristics of non-syndromic craniofacial fibrous dysplasia. Chang Gung Med J. 2002;25:1-8 pubmed
    ..Computed tomography (CT) imaging study of the disease is useful for evaluation and treatment planning. However, few studies have evaluated such large patient series...
  22. Kelly M, Brillante B, Collins M. Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions. Osteoporos Int. 2008;19:57-63 pubmed
    ..Pain was common, more prevalent and intense in adults, sometimes requiring narcotic analgesia. It was often untreated, especially in children, and surprisingly severity did not correlate with skeletal disease burden...
  23. Panda N, Parida P, Sharma R, Jain A, Bapuraj J. A clinicoradiologic analysis of symptomatic craniofacial fibro-osseous lesions. Otolaryngol Head Neck Surg. 2007;136:928-33 pubmed
    ..To outline the clinical and radiologic aspects of symptomatic craniofacial fibro-osseous lesions and to study the appropriate surgical management with follow-up results...
  24. Yang X, Guo Z, Mu X, Yu Z. A lateral approach at the upper corner of the orbit in fronto-orbital fibrous dysplasia: less invasive and more effective approach for morphologic reconstruction and optic functional restoration. J Craniofac Surg. 2009;20 Suppl 2:1831-5 pubmed publisher
    ..To explore the concise surgical approach to treat complicated intracranio- and extracranio-orbital fibrous dysplasia...
  25. Mariot V, WU J, Aydin C, Mantovani G, Mahon M, Linglart A, et al. Potent constitutive cyclic AMP-generating activity of XL?s implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone. Bone. 2011;48:312-20 pubmed publisher
    ..Our findings are consistent with the possibility that constitutive XL?s activity adds to the molecular pathogenesis of MAS and fibrous dysplasia of bone.
  26. Sadeghi S, Hosseini S. Spontaneous conversion of fibrous dysplasia into osteosarcoma. J Craniofac Surg. 2011;22:959-61 pubmed publisher
    ..His postsurgery results were good, and he did not experience a relapse until 1 year after surgery. Unfortunately, 6 months after the recurrence of his condition, he died of uncontrollable local spread...
  27. Hart E, Kelly M, Brillante B, Chen C, Ziran N, Lee J, et al. Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. J Bone Miner Res. 2007;22:1468-74 pubmed
    ..These findings have implications for prognosis and determining the timing and type of therapy...
  28. Ippolito E, Bray E, Corsi A, De Maio F, Exner U, Robey P, 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;12:155-77 pubmed
    A multicenter study on fibrous dysplasia of bone (FD) was promoted by the European Pediatric Orthopaedic Society in 1999 in order to gain insight into the natural history of the disease and to evaluate current diagnostic and therapeutic ..
  29. Tsai E, Santoreneos S, Rutka J. Tumors of the skull base in children: review of tumor types and management strategies. Neurosurg Focus. 2002;12:e1 pubmed
    ..Outcomes in this population may be better than those in adults, in part because of the benign histopathology that frequently affects the pediatric skull base, as well as the plasticity of the maturing nervous system...
  30. Chapurlat R, Hugueny P, Delmas P, Meunier P. Treatment of fibrous dysplasia of bone with intravenous pamidronate: long-term effectiveness and evaluation of predictors of response to treatment. Bone. 2004;35:235-42 pubmed
    ..Despite the lack of a control group, our results suggest that intravenous pamidronate improves radiological aspect in half of the patients with FD, decreases bone turnover, and may decrease pain intensity...
  31. Zhibin Y, Quanyong L, Libo C, Jun Z, Hankui L, Jifang Z, et al. The role of radionuclide bone scintigraphy in fibrous dysplasia of bone. Clin Nucl Med. 2004;29:177-80 pubmed
    ..The purpose of this study was to study the characteristics of fibrous dysplasia (FD) of bone on bone scans and to evaluate the diagnostic value of radionuclide bone scans in FD...
  32. Lin W, Wu H, Wei C, Chang C. Aneurysmal bone cyst arising from fibrous dysplasia of the frontal bone (2004:2b). Eur Radiol. 2004;14:930-2 pubmed
  33. Collins M. Spectrum and natural history of fibrous dysplasia of bone. J Bone Miner Res. 2006;21 Suppl 2:P99-P104 pubmed
  34. Matarazzo P, Lala R, Masi G, Andreo M, Altare F, de Sanctis C. Pamidronate treatment in bone fibrous dysplasia in children and adolescents with McCune-Albright syndrome. J Pediatr Endocrinol Metab. 2002;15 Suppl 3:929-37 pubmed
    ..Three patterns of MRI were found: homogeneous hypointense fibrous tissue, 'dotted' hypointense fibrous tissue, and hyperintense cystic images. Pamidronate treatment can be considered a favorable therapeutic option for patients with MAS...
  35. Abdel Wanis M, Tsuchiya H. Melatonin deficiency and fibrous dysplasia: might a relation exist?. Med Hypotheses. 2002;59:552-4 pubmed
    b>Fibrous dysplasia of bone might be monostotic, polystotic, or occurs as a part of McCune-Albright syndrome and Jaffe-Lichtenstein syndrome. Activating mutations of GNAS1 gene was identified in patients with fibrous dysplasia...
  36. Corsi A, Collins M, Riminucci M, Howell P, Boyde A, Robey P, et al. Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical correlations. J Bone Miner Res. 2003;18:1235-46 pubmed
    ..Compared with unaffected bone, lesional FD bone seemed to be very sensitive to the effects of PTH and renal phosphate wasting, which respectively bring about hyperparathyroid or osteomalacic changes in the lesional bone...
  37. Zaytoun G, Dagher W, Rameh C. Recurrent facial nerve paralysis: an unusual presentation of fibrous dysplasia of the temporal bone. Eur Arch Otorhinolaryngol. 2008;265:255-9 pubmed
    ..We discuss possible etiological factors for the paralysis favoring a compressive, transient ischemia of the facial nerve. The authors suggest adding FDTB to the differential diagnosis of recurrent FNP...
  38. McCaffrey M, Letts M, Carpenter B, Kabir A, Davidson D, Seip J. Osteofibrous dysplasia: a review of the literature and presentation of an additional 3 cases. Am J Orthop (Belle Mead NJ). 2003;32:479-86 pubmed
    ..We present 3 cases of this lesion seen at our institution and provide a review of all previous cases reported in the literature...
  39. Kelly M, Brillante B, Kushner H, Gehron Robey P, Collins M. Physical function is impaired but quality of life preserved in patients with fibrous dysplasia of bone. Bone. 2005;37:388-94 pubmed
    b>Fibrous dysplasia of bone (FD) is a congenital, non-heritable skeletal disorder that is associated with multiple skeletal complications, including repeated fractures, limb length discrepancy, and bone pain...
  40. Lei P, Bai H, Wang Y, Liu Q. Surgical treatment of skull fibrous dysplasia. Surg Neurol. 2009;72 Suppl 1:S17-20 pubmed publisher
    ..Faced with this, combined with our clinical experience, we explore the surgical strategy and operative procedures of the skull fibrous dysplasia...
  41. Eversole R, Su L, ElMofty S. Benign fibro-osseous lesions of the craniofacial complex. A review. Head Neck Pathol. 2008;2:177-202 pubmed publisher
    ..The clinicopathologic and molecular features of this unique yet heterogeneous group of diseases are reviewed...
  42. Parisi M, Oliveri B, Mautalen C. Effect of intravenous pamidronate on bone markers and local bone mineral density in fibrous dysplasia. Bone. 2003;33:582-8 pubmed
    ..6% in CL. No changes were observed on the X-ray. These results indicate that simultaneous determination of markers of bone turnover and BMD of FDa is useful in short-term follow-up to determine the efficacy of intravenous pamidronate...
  43. Lala R, Matarazzo P, Bertelloni S, Buzi F, Rigon F, de Sanctis C. Pamidronate treatment of bone fibrous dysplasia in nine children with McCune-Albright syndrome. Acta Paediatr. 2000;89:188-93 pubmed
    ..Radiographic and scintigraphic evidence of lesion healing was not attained. Pamidronate treatment can ameliorate the course of bone fibrous dysplasia in children and adolescents with McCune-Albright syndrome...
  44. Candeliere G, Roughley P, Glorieux F. Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. Bone. 1997;21:201-6 pubmed
    ..The technique has been applied to the analysis of patients with fibrous dysplasia of bone, where the consequence of G alpha s mutations may vary from monostotic to polyostotic lesions, and has ..
  45. Ricalde P, Horswell B. Craniofacial fibrous dysplasia of the fronto-orbital region: a case series and literature review. J Oral Maxillofac Surg. 2001;59:157-67; discussion 167-8 pubmed
    ..Craniofacial fibrous dysplais (CFD), involving the fronto-orbital region often is challenging to treat because of the proximity of neurovascular and ocular structures. This article presents the surgical experience with 6 patients...
  46. Fang Z, Mukai H, Nomura K, Shinomiya K, Matsumoto S, Kawaguchi N, et al. Establishment and characterization of a cell line from a malignant fibrous histiocytoma of bone developing in a patient with multiple fibrous dysplasia. J Cancer Res Clin Oncol. 2002;128:45-9 pubmed
  47. Lustig L, Holliday M, McCarthy E, Nager G. Fibrous dysplasia involving the skull base and temporal bone. Arch Otolaryngol Head Neck Surg. 2001;127:1239-47 pubmed
    ..To gain a broader appreciation of the clinical presentation, operative treatment, and outcome of patients with fibrous dysplasia involving the skull base...
  48. Thomas C, Mahapatra A, Joy M, Krishnan A, Sharma R. Craniofacial surgery in Oman: a preliminary study of 10 cases. J Craniofac Surg. 2001;12:247-52 pubmed
    ..These operations were the first of this kind to be done in this part of the world. This article highlights the need for developing craniofacial units in the Gulf region...
  49. Ogunsalu C, Lewis A, Doonquah L. Benign fibro-osseous lesions of the jaw bones in Jamaica: analysis of 32 cases. Oral Dis. 2001;7:155-62 pubmed
    ..No such analysis has been carried out in Jamaica or elsewhere in the English-speaking Caribbean...
  50. Haddad G, Hambali F, Mufarrij A, Nassar A, Haddad F. Concomitant fibrous dysplasia and aneurysmal bone cyst of the skull base. Case report and review of the literature. Pediatr Neurosurg. 1998;28:147-53 pubmed
    ..The treatment of choice remains early surgical removal of the maximal amount of involved bone that can safely be achieved. There is no role for radiotherapy in the treatment of these lesions. A review of the literature is included...
  51. Pollandt K, Engels C, Kaiser E, Werner M, Delling G. Gsalpha gene mutations in monostotic fibrous dysplasia of bone and fibrous dysplasia-like low-grade central osteosarcoma. Virchows Arch. 2001;439:170-5 pubmed
  52. Char D, Barakos J, Cobbs C, Shiel M. Fibrous dysplasia. Orbit. 2010;29:216-8 pubmed publisher
    ..An atypical presentation of fibrous dysplasia with a very large cystic component is described. The MR pattern was not diagnostic. ..
  53. Sun H, Lee J, Kim K, Yeom J, Kang H. Percutaneous intervention of the C2 vertebral body using a CT-guided posterolateral approach. AJR Am J Roentgenol. 2009;193:1703-5 pubmed publisher
    ..The CT-guided posterolateral approach was safe, feasible, and effective for percutaneous intervention of the C2 vertebral body. ..
  54. Landesberg R, Eisig S, Fennoy I, Siris E. Alternative indications for bisphosphonate therapy. J Oral Maxillofac Surg. 2009;67:27-34 pubmed publisher
    ..Finally, we will review previous in vivo studies on the use of bisphosphonates to augment integration and to treat osteolysis surrounding failing orthopedic implants...
  55. Silva I, Mateus M, Branco J. [Fibrous dysplasia and McCune-Albright syndrome: case-report and differential diagnose with Paget bone disease]. Acta Reumatol Port. 2010;35:497-503 pubmed
    b>Fibrous dysplasia of bone or Jaffe Lischtenstein's disease is a genetic, non-inheritable disease of bone development, characterized by bone pain, deformities and fracture, mainly observed in yo ung adults...