Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 55-69 , March 2008

Fibrous dysplasia of bone and McCune–Albright syndrome

  • Roland D. Chapurlat, MD, PhD (Professor of Rheumatology)

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +33 4 72 11 74 81; Fax: +33 4 72 11 74 83.

References 

  1. Weinstein LS, Shenker A, Gejman PV, et al. Activating mutations of the stimulatory G protein in the McCune–Albright syndrome. The New England Journal of Medicine. 1991;325:1688–1695
  2. Shenker A, Weinstein LS, Sweet DE, Spiegel AM. An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune–Albright syndrome. The Journal of Clinical Endocrinology and Metabolism. 1994;79:750–755
  3. Happle R. The McCune–Albright syndrome: a lethal gene surviving by mosaicism. Clinical Genetics. 1986;29:321–324
  4. Bourne HR, Landis CA, Masters SB. Hydrolysis of GTP by the alpha-chain of Gs and other GTP binding proteins. Proteins. 1989;6:222–230
  5. Yamamoto T, Ozono K, Kasayama S, et al. Increased IL-6 production by cells isolated from the fibrous bone dysplasia tissues in patients with McCune–Albright syndrome. The Journal of Clinical Investigation. 1996;98:30–35
  6. 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. The American Journal of Pathology. 1997;150:1059–1069
  7. Candeliere GA, Glorieux FH, Prud'homme J, St Arnaud R. Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. The New England Journal of Medicine. 1995;332:1546–1551
  8. Rüther U, Garber C, Komitovski D, et al. Deregulated c-fos expression interferes with normal bone development in transgenic mice. Nature. 1987;325:412–416
  9. Shenker A, Weinstein LS, Moran A, et al. Severe endocrine and non endocrine manifestations of the McCune–Albright syndrome associated with activating mutations of stimulatory G protein GS. The Journal of Pediatrics. 1993;123:509–518
  10. Spiegel AM. Mutations in G proteins and G-coupled protein receptors in endocrine disease. The Journal of Clinical Endocrinology and Metabolism. 1996;81:2434–2442
  11. Stanton RP, Hobson GM, Montgomery BE, et al. Glucocorticoids decrease interleukin-6 levels and induce mineralization of cultured osteogenic cells from children with fibrous dysplasia. Journal of Bone and Mineral Research. 1999;14:1104–1114
  12. Olsen BJ. A rare disorder, yes; an unimportant one, never. The Journal of Clinical Investigation. 1998;101:1545–1546
  13. Kaplan FS, Fallon MD, Boden SD, et al. Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune–Albright syndrome). The New England Journal of Medicine. 1988;319:421–425
  14. Stevens-Simon C, Stewart J, Nakashima II, White M. Exacerbation of fibrous dysplasia associated with an adolescent pregnancy. The Journal of Adolescent Health. 1991;12:403–405
  15. Kim I, Kim ER, Nam HJ, et al. Activation mutation of Gs alpha in McCune–Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes. Hormone Research. 1999;52:235–240
  16. Weinstein LS. GNAS and McCune–Albright syndrome/fibrous dysplasia. Albright hereditary osteodystrophy/pseudohypoparathyroidism type 1A, progressive heteroplasia, and pseudohypoparathyroidism type 1B. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. Molecular Basis of Inborn Errors of Development. 1st edn. San Francisco: Oxford University Press; p. 849–66.
  17. Firat D, Stutzman L. Fibrous dysplasia of the bone, review of 24 cases. The American Journal of Medicine. 1968;44:421–429
  18. Reed RJ. Fibrous dysplasia of bone. A review of 25 cases. Archives of Pathology. 1963;75:480–495
  19. Shajowicz F, Cabrini RL. Histochemical studies of bone in normal and in pathologic conditions with special reference to alkaline phosphatase, glycogen, and mucopolysaccharides. The Journal of Bone and Joint Surgery. 1954;36B:474–489
  20. Ruggieri P, Sim FH, Bond JR, Unni KK. Malignancies in fibrous dysplasia. Cancer. 1994;73:1411–1424
  21. McCune DJ. Osteitis fibrosa cystica: the case of a nine year old girl who also exhibits precocious puberty, multiple pigmentations of the skin and hyperthyroidism. American Journal of Diseases of Children. 1936;52:743–744
  22. Albright F, Butler AM, Hampton AO, Smith P. Syndrome characterized by osteitis fibrosa disseminate, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. The New England Journal of Medicine. 1937;216:727–746
  23. Pritchard JE. Fibrous dysplasia of bone. The American Journal of the Medical Sciences. 1951;22:313–332
  24. Chanson P, Salenave S, Orcel P. McCune–Albright syndrome in adulthood. Pediatric Endocrinology Reviews. 2007;4(supplement 4):453–462
  25. Mazabraud A, Girard J. Un cas particulier de dysplasie de localisations osseuses et tendineuses. Revue du Rhumatisme. 1957;34:652–659
  26. Collins MT, Chebli C, Jones J, et al. Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia. Journal of Bone and Mineral Research. 2001;16:806–813
  27. Riminucci M, Collins MT, Fedarko NS, et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. The Journal of Clinical Investigation. 2003;112:683–692
  28. Yamamoto T, Imanishi Y, Kinoshita E, et al. The role of FGF-23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune–Albright syndrome. Journal of Bone and Mineral Research. 2005;23:231–237
  29. Corsi A, Collins MT, Riminucci M, et al. Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical correlations. Journal of Bone and Mineral Research. 2003;18:1235–1246
  30. Bianco P, Riminucci M, Majolagbe A, et al. Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune–Albright fibrous dysplasia of bone. Journal of Bone and Mineral Research. 2000;15:120–128
  31. Leet AI, Chebli C, Kushner H, et al. Fracture incidence in polyostotic fibrous dysplasia and the McCune–Albright syndrome. Journal of Bone and Mineral Research. 2004;19:571–577
  32. Leet AI, Chebli C, Kushner H, et al. Fibrous dysplasia in the spine: prevalence of lesions and association with scoliosis. The Journal of Bone and Joint Surgery. American Volume. 2004;86:531–537
  33. Lee JS, Fitzgibbon E, Butman JA, et al. Normal vision despite narrowing of the optic canal in fibrous dysplasia. The New England Journal of Medicine. 2002;347:1670–1676
  34. Cutler CM, Lee JS, Butman JA, et al. Long-term outcome of optic nerve encasement and optic nerve decompresssion in patients with fibrous dysplasia: risk factors for blindness and safety of observation. Neurosurgery. 2006;59:1011–1017
  35. Schwartz DT, Alpert M. The malignant transformation of fibrous dysplasia. The American Journal of the Medical Sciences. 1964;247:1–20
  36. Huvos AG, Higinbotham NL, Miller TR. Bone sarcomas arising in fibrous dysplasia. The Journal of Bone and Joint Surgery. American Volume. 1972;54:1047–1056
  37. Yabut SM, Kenan S, Sissons HA, Lewis MM. Malignant transformation of fibrous dysplasia: a case report and review of the literature. Clinical Orthopaedics and Related Research. 1988;228:281–289
  38. Yao L, Eckardt JJ, Seeger LL. Fibrous dysplasia associated with cortical bony destruction: CT and MR findings. Journal of Computer Assisted Tomography. 1994;18:91–94
  39. Utz J, Kransdorf MJ, Jelinek JS, et al. MR appearance of fibrous dysplasia. Journal of Computer Assisted Tomography. 1989;13:845–851
  40. Greco MA, Steiner GC. Ultrastructure of fibrous dysplasia of bone: a study of its fibrous, osseous, and cartilaginous components. Ultrastructural Pathology. 1986;10:55–66
  41. Riminucci M, Fisher LW, Shenker A, et al. Fibrous dysplasia of bone and the McCune–Albright syndrome. The American Journal of Pathology. 1997;151:1587–1600
  42. 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. The Journal of Pathology. 1999;187:249–258
  43. Liens D, Delmas PD, Meunier PJ. Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. Lancet. 1994;343:953–954
  44. Chapurlat RD, Delmas PD, Liens D, Meunier PJ. Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. Journal of Bone and Mineral Research. 1997;12:1746–1752
  45. Chapurlat RD, Hugueny P, Delmas PD, Meunier PJ. Treatment of fibrous dysplasia of bone with intravenous pamidronate: predictors of response to treatment and long-term effectiveness. Bone. 2004;35:235–242
  46. Chapurlat R, Meunier PJ. The nonsurgical treatment of fibrous dysplasia. Revue du Rhumatisme (English Ed.). 1999;66:1–3
  47. Parisi MS, Oliveri B, Mautalen CA. Effect of intravenous pamidronate on bone markers and local bone mineral density in fibrous dysplasia of bone. Bone. 2003;33:582–588
  48. Weinstein RS. Long-term aminobisphosphonate treatment of fibrous dysplasia: spectacular increase in bone density. Journal of Bone and Mineral Research. 1997;12:1314–1315
  49. Kitagawa Y, Tamai K, Ito H. Oral alendronate treatment for polyostotic fibrous dysplasia: a case report. Journal of Orthopaedic Science. 2001;9:521–525
  50. Lane JM, Khan SF, O'Connor WJ, et al. Bisphosphonate therapy in fibrous dysplasia. Clinical Orthopaedics and Related Research. 2001;382:6–12
  51. Chapurlat RD. Medical therapy in adults with fibrous dysplasia of bone. Journal of Bone and Mineral Research. 2006;21(supplement 2):114–119
  52. Plotkin H, Rauch F, Zeitlin L, et al. Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. The Journal of Clinical Endocrinology and Metabolism. 2003;88:4569–4575
  53. Lala R, Matarazzo P, Bertelloni S, et al. Pamidronate treatment of bone fibrous dysplasia in nine children with McCune–Albright syndrome. Acta Paediatrica. 2000;89:188–193
  54. Isaia GC, Lala R, Defilippi C, et al. Bone turnover in children and adolescents with McCune–Albright syndrome treated with pamidronate for bone fibrous dysplasia. Calcified Tissue International. 2002;71:121–128
  55. Zacharin M, O'Sullivan M. Intravenous pamidronate treatment of polyostotic fibrous dysplasia associated with the McCune–Albright syndrome. The Journal of Pediatrics. 2000;137:403–409

PII: S1521-6942(07)00127-1

doi: 10.1016/j.berh.2007.11.004

Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 55-69 , March 2008

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