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Head and Neck Pathology

, Volume 8, Issue 4, pp 432–444 | Cite as

Fibro-Osseous Lesions of the Craniofacial Skeleton: An Update

  • Samir K. El-MoftyEmail author
Update in Gnathic Pathology. Guest Editors: Angela Chi, DMD and John Wright, DDS

Abstract

Benign fibro-osseous lesions of the craniofacial skeleton (BFOL) are a variant group of intraosseous disease processes that share similar microscopic features characterized by hypercellular fibroblastic stroma containing various combinations of bone or cementum-like tissue and other calcified structures [1, 2, 3, 4, 5, 6]. Whereas some are diagnosable histologically, most require a combined assessment of clinical, microscopic and radiologic features. Some BFOL of the craniofacial complex are unique to that location whereas others are encountered in bones from other regions. Reactive, neoplastic, developmental and dysplastic pathologic processes are included under the rubric of BFOL and treatment varies from disease to disease. This review will discuss the clinical, microscopic and radiologic aspects of the more important types of BFOL of the craniofacial complex with updated information on underlying genetic and molecular pathogenic mechanisms of disease. Four main groups of BFOLs will be addressed.

Keywords

Fibrous dysplasia Ossifying fibroma Cemento-osseous dysplasia Ossifying fibromas associated with systemic genetic disorders 

Notes

Acknowledgments

The national and international community of Oral and Head and Neck pathologists are particularly grateful for Lewis Roy Eversole role in founding this Journal and for acting as its first co-Editor-In-Chief.

References

  1. 1.
    Waldron CA, Giansanti JS. Benign fibro-osseous lesions of the jaws: a clinical radiologic-histologic review of sixty-five cases I. Oral Surg Oral Med Oral Pathol. 1973;35:190–201.PubMedCrossRefGoogle Scholar
  2. 2.
    Waldron CA, Giansanti JS. Benign fibro-osseous lesions of the jaws: a clinical radiologic-histologic review of sixty-five cases II. Oral Surg Oral Med Oral Pathol. 1973;35:340–50.PubMedCrossRefGoogle Scholar
  3. 3.
    Hamner JE III, Scofield HH, Cornyn J (1968) Benign fibro-osseous lesions of periodontal membrane origin. An analysis of 249 cases. Cancer. 1968;22:861–78.Google Scholar
  4. 4.
    Waldron CA. Fibro-osseous lesions of the jaws. J Oral Maxillofac Surg. 1993;51(8):828–35.PubMedCrossRefGoogle Scholar
  5. 5.
    El-Mofty S. Bone lesions. In: Gnepp D, editor. Diagnostic surgical pathology of the head and neck, 2nd ed. Philadelphia: Saunders, Elsevier; 2009. p. 729–84.Google Scholar
  6. 6.
    Eversole R, Su L, El-Mofty S. Benign fibro-osseous lesions of the craniofacial complex: a review. Head Neck Pathol. 2008;2:177–202.PubMedCentralPubMedCrossRefGoogle Scholar
  7. 7.
    Kransdorf MJ, Moser RP Jr, Gilkey FW. Fibrous dysplasia. Radiographics. 1990;10(3):519–37.PubMedCrossRefGoogle Scholar
  8. 8.
    Ishida T, Dorfman HD. Massive chondroid differentiation in fibro-osseous dysplasia of bone (fibrocartilagenous dysplasia). Am J Surg Pathol. 1993;17:924–30.PubMedCrossRefGoogle Scholar
  9. 9.
    Lumbroso S, Paris F, Sultan C. McCune-Albright syndrome: molecular genetics. J Pediatr Endocrinol Metab. 2002;15(Suppl 3):875–82.PubMedGoogle Scholar
  10. 10.
    Marie PJ, de Pollak C, Chanson P, et al. Increased proliferation of osteoblastic cells expressing the activating Gs alpha mutation in monostotic and polyostotic fibrous dysplasia. Am J Pathol. 1997;150:1059–69.PubMedCentralPubMedGoogle Scholar
  11. 11.
    Marie PJ. Cellular and molecular basis of fibrous dysplasia. Histol Histopathol. 2001;16:981–8.PubMedGoogle Scholar
  12. 12.
    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;87:2489–94.PubMedCrossRefGoogle Scholar
  13. 13.
    Stompro BE, Wolf P, Haghighi P. Fibrous dysplasia of bone. Am Fam Phys. 1989;39(3):179–84.Google Scholar
  14. 14.
    Ricalde P, Horswell BB. Craniofacial fibrous dysplasia of the fronto-orbital region: a case series and literature review. J Oral Maxillofac Surg. 2001 Feb;59(2):157–67; discussion 67–8.Google Scholar
  15. 15.
    Moore AT, Buncic JR, Munro IR. Fibrous dysplasia of the orbit in childhood. Clinical features and management. Ophthalmology. 1985;92(1):12–20.PubMedCrossRefGoogle Scholar
  16. 16.
    Barat M, Rybak LP, Mann JL. Fibrous dysplasia masquerading as chronic maxillary sinusitis. Ear Nose Throat J. 1989 Jan;68(1):42, 4–6.Google Scholar
  17. 17.
    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;228:281–9.PubMedGoogle Scholar
  18. 18.
    Huvos A. Bone tumors: diagnosis, treatment, and prognosis. 2nd ed. Philadelphia: W B Saunders; 1991.Google Scholar
  19. 19.
    Ruggieri P, Sim FH, Bond JR, Unni KK. Malignancies in fibrous dysplasia. Cancer. 1994;73(5):1411–24.PubMedCrossRefGoogle Scholar
  20. 20.
    Slootweg P, El-Mofty S. Ossifying Fibroma. In: Barnes L, Eveson J, Reichart P, Sidronsky D, editors. Pathology and genetics head and neck tumors. Lyon: IARC Press; 2005. p. 319–20.Google Scholar
  21. 21.
    Eversole LR, Leider AS, Nelson K. Ossifying fibroma: a clinicopathologic study of sixty-four cases. Oral Surg Oral Med Oral Pathol. 1985;60(5):505–11.PubMedCrossRefGoogle Scholar
  22. 22.
    Eversole LR, Merrell PW, Strub D. Radiographic characteristics of central ossifying fibroma. Oral Surg Oral Med Oral Pathol. 1985;59(5):522–7.PubMedCrossRefGoogle Scholar
  23. 23.
    El-Mofty SK. Cemento-ossifying fibroma and benign cementoblastoma. Semin Diagn Pathol. 1999;16(4):302–7.PubMedGoogle Scholar
  24. 24.
    Pimenta FJ, Silveria LFG, Tavares GC, Silva AC, Perdigao PF, et al. HRPT2 gene alterations in ossifying fibroma of the jaws. Oral Oncol. 2006;42:735–9.PubMedCrossRefGoogle Scholar
  25. 25.
    Woodard GE. Lin L, Zhang J-H, Agarwal SK, Marx SJ, Simond FS. Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD expression. Oncogene. 2005;24:1272–6.PubMedCrossRefGoogle Scholar
  26. 26.
    Toyosawa S, Yuki M, Kishino M, Ogawa Y, Ueda T, et al. Ossifying fibroma vs fibrous dysplasia of the jaws: molecular and immunological characterization. Mod Pathol. 2007;20:389–96.PubMedCrossRefGoogle Scholar
  27. 27.
    Patel MM, Wilkey JF, Abdelsayed R, D’Silva N, Malchoff C, et al. Analysis of GNAS mutations in cemento-ossyfying fibroma and cemento-osseous dysplasia. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010;109:739–43.PubMedCentralPubMedCrossRefGoogle Scholar
  28. 28.
    Slootweg P, El-Mofty S. Ossifying Fibroma. In: Barnes L, Eveson J, Reichart P, Sidronsky D, editors. Pathology and genetics head and neck tumors. Lyon: IARC Press; 2005. p. 319–20.Google Scholar
  29. 29.
    El-Mofty S. Psammomatoid and trabecular juvenile ossifying fibroma of the craniofacial skeleton: two distinct clinicopathologic entities. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2002;93(3):296–304.PubMedCrossRefGoogle Scholar
  30. 30.
    Slootweg PJ, Muller H. Juvenile ossifying fibroma. Report of four cases. J Craniomaxillofac Surg. 1990;18(3):125–9.PubMedCrossRefGoogle Scholar
  31. 31.
    Slootweg PJ, Panders AK, Koopmans R, Nikkels PG. Juvenile ossifying fibroma. An analysis of 33 cases with emphasis on histopathological aspects. J Oral Pathol Med. 1994;23(9):385–8.PubMedCrossRefGoogle Scholar
  32. 32.
    Margo CE, Weiss A, Habal MB. Psammomatoid ossifying fibroma. Arch Ophthalmol. 1986;104(9):1347–51.PubMedCrossRefGoogle Scholar
  33. 33.
    Margo CE, Ragsdale BD, Perman KI, Zimmerman LE, Sweet DE. Psammomatoid (juvenile) ossifying fibroma of the orbit. Ophthalmology. 1985;92(1):150–9.PubMedCrossRefGoogle Scholar
  34. 34.
    Khoury NJ, Naffaa LN, Shabb NS, Haddad MC. Juvenile ossifying fibroma: CT and MR findings. Eur Radiol. 2002;12(Suppl 3):S109–13.PubMedGoogle Scholar
  35. 35.
    Marvel JB, Marsh MA, Catlin FI. Ossifying fibroma of the mid-face and paranasal sinuses: diagnostic and therapeutic considerations. Otolaryngol Head Neck Surg. 1991;104(6):803–8.PubMedGoogle Scholar
  36. 36.
    Summerlin DJ, Tomich CE. Focal cemento-osseous dysplasia: a clinicopathologic study of 221 cases. Oral Surg Oral Med Oral Pathol. 1994;78:611–20.PubMedCrossRefGoogle Scholar
  37. 37.
    Melrose RJ, Abrams AM, Mills BG. Florid osseous dysplasia. A clinical-pathologic study of thirty-four cases. Oral Surg Oral Med Oral Pathol. 1976;41(1):62–82.PubMedCrossRefGoogle Scholar
  38. 38.
    El-Mofty SK. Lesions of the head and neck. In: Wick M, Humphrey P, Ritter J, editors. Pathology of pseudoneoplastic lesions. Philadelphia: Lippincott—Raven; 1997. p. 69–96.Google Scholar
  39. 39.
    Mupparapu M, Singer SR, Milles M, Rinaggio J. Simultaneous presentation of focal cemento-osseous dysplasia and simple bone cyst of the mandible masquerading as a multilocular radiolucency. Dentomaxillofac Radiol. 2005;34(1):39–43.PubMedCrossRefGoogle Scholar
  40. 40.
    Wakasa T, Kawai N, Aiga H, Kishi K. Management of florid cemento-osseous dysplasia of the mandible producing solitary bone cyst: report of a case. J Oral Maxillofac Surg. 2002;60(7):832–5.PubMedCrossRefGoogle Scholar
  41. 41.
    Sawyer JR, Tryka AF, Bell JM, et al. Nonrandom chromosome breakpoints at Xq26 and 2q33 characterize cemento-ossifying fibromas of the orbit. Cancer. 1995;76:1853–9.PubMedCrossRefGoogle Scholar
  42. 42.
    Tabareau-Delalande F, Collin C, Gomez-Brouchet A, Bouvier C, Decouvelaere A-V, et al. Chromosome 12 long arm rearrangement covering MDM2 and RASAL1 is associated with aggressive craniofacial juvenile ossifying fibroma and extracranial psammomatoid fibro-osseous lesions. Mod Pathol. 2014;. doi: 10.1038/modpathol.2014.80.PubMedGoogle Scholar
  43. 43.
    Shattuck T, Valimaki S, Obara T, Gaz RD, Clark OH, et al. Somatic and germ-line mutations of HRPT2 gene in sporadic parathyroid carcinoma. N Eng J Med. 2003;349:1722–9.CrossRefGoogle Scholar
  44. 44.
    Iacobone M, Masi G, Barzon L, Porzionato A, Macchi V, et al. Hyperparathyroidism-jaw tumor syndrome: a report of three large kindred. Langenbecks Arch Surg. 2009;394:817–25.PubMedCrossRefGoogle Scholar
  45. 45.
    Kenneth S, Pollick H. jaw lesions in familial hyperparathyroidism. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1971;31:502–10.CrossRefGoogle Scholar
  46. 46.
    Rosen IB, Palmer JA. Fibro-osseous tumors of the facial skeleton in association with primary hyperparathyroidism: an endocrine syndrome r coincidence? Am J Surg. 1981;142:494–8.PubMedCrossRefGoogle Scholar
  47. 47.
    Aldred MJ, Talacko AA, Savarirayan R, Murdolo V, Mills AE, et al. Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and novel HPRT2 gene mutation. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101:212–8.PubMedCrossRefGoogle Scholar
  48. 48.
    Szabo J, Heath B, Hill VM, Jackson CE, Zarbo RJ, et al. Hereditary hyperparathyroidism-jaw tumor syndrome; the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet. 1995;56:944–50.PubMedCentralPubMedGoogle Scholar
  49. 49.
    Warnakulasuriya S, Markwell BD, Williams DM. Familial hyperparathyroidism associated with cementifyingfibromas of the jaws in two siblings. Oral Surg Oral Med Oral Pathol. 1985;59:269–74.PubMedCrossRefGoogle Scholar
  50. 50.
    Carlson AL, Smith CL. Primary hyperparathyroidism and jaw tumor syndrome; a novel mutation in HRPT2 gene. Endocr Pract. 2008;14:743–7.PubMedCrossRefGoogle Scholar
  51. 51.
    Abdulla AG, O’Leary EM, Isorena JP, Diaz MFP, Yeh MW. Recurrent hyperparathyroidism and novel nonsense mutation in a patient with hyperparathyroidism-jaw tumor syndrome. Endocr Pract. 2013;19:e134–7.PubMedCrossRefGoogle Scholar
  52. 52.
    Agazzi C, Belloni L. Gli odontomi duri dei mascellari contributo clinico-rontgenologico e anatomo-microscopico con particolare riguardo alle formle ad estensione e alla comparsa familiare. Arch Ital Otol. 1953;64(suppl 16):3–102.Google Scholar
  53. 53.
    Young SK, Markowitz R, Sullivan S, Seal TW, Hirsci R. Familial gigantiform cementoma; classification and presentation of a large pedigree. Oral Surg Oral Med Oral Pathol. 1989;68:740–747.Google Scholar
  54. 54.
    Abdelsayed RA, Eversole LR, Singh BS, Scarbrough FE. Gigantiform cementoma; clinicopathologic presentation of 3 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2001;91:438–44.PubMedCrossRefGoogle Scholar
  55. 55.
    Shah S, Huh KH, Yi WJ, Heo MS, Lee SS, Choi SC. Follow up findings of recurrent gigantiform cementoma of a female child. Skeletal Radiol. 2012;41:341–6.PubMedCrossRefGoogle Scholar
  56. 56.
    Finical SJ, Kane WJ, Clay RP, Bite U. Familial Gigantiform cementoma. Plastic Recon Surg. 1999;103:949–54.CrossRefGoogle Scholar
  57. 57.
    Tsutsumi S, Kamata N, Maruoka Y, Ando M, Tezuka O, et al. Autosomal dominant Gnathodiaphyseal dysplasia maps to chromosome11p14.3-15.1. J Bone Miner Res. 2003;18:413–8.PubMedCrossRefGoogle Scholar
  58. 58.
    Marconi C, Binello PB, Badiali G, Caci E, Cusano R, et al. A novel missense mutation in ANO5/TMEM516E is causative for Gnathodiaphyseal dysplasia in a large Italian pedigree. Eur J Hum Genet. 2013;21:613–9.PubMedCentralPubMedCrossRefGoogle Scholar
  59. 59.
    Levin LS, Wright JM, Byrd DL, Greenway G, Dorst JP, et al. Osteogenesis imperfeacta with unusual skeletal lesions: report of three families. Amer J Med Genet. 1985;21:257–69.CrossRefGoogle Scholar
  60. 60.
    Shibahara T, Noma H, Yamane G-Y, Hashimoto S. Large cementifying fibroma in a patient with osteogenesis imperfecta. J Oral Maxillofac Surg. 1996;54:1016–9.PubMedCrossRefGoogle Scholar
  61. 61.
    Nishimora G, Haga N, Ikeuchi S, Yamaguchi T, Aoki K, Yamato M. Fragil bone syndrome associated with craniognathic fibro-osseous lesions and abnormal modeling of the tubular bones; report of two cases with review of literature. Skeletal Radiol. 1996;25:717–22.CrossRefGoogle Scholar
  62. 62.
    Moshref M, Khojastch A, Kazemi B, Roudsari MV, Varshowaz M, Eslami B. Autosomal dominant gigantiform cementoma associated with bone fractures. Am J Med Genet Part A. 2008;146A:644–8.PubMedCrossRefGoogle Scholar
  63. 63.
    Rossbach HC, Leston D, lacson A, Ruas E, Salazar P. Familial gigantiform cementoma with brittle bone disease, pathologic fractures, and osteosarcoma: a possible explanation of an ancient mystery. Pediatr Blood Cancer 2005;44:390–6.Google Scholar
  64. 64.
    Akaska Y, Nakajima T, Koyama K, Furuya K, Misuka Y. Familial cases of new systemic bone disease, hereditary gnathodiaphysial sclerosis. Nippon Seigeka Gakkai Zasshi. 1996;43:381–94.Google Scholar
  65. 65.
    Riminucci M, Collins MT, Corsi A, Boyde A, Murphey MD, et al. Gnathodiaphyseal dysplasia; a syndrome of fibro-osseous lesions of the jaw bones, bone fragility, and long bone bowing. J Bone Miner Res. 2001;16:1710–8.PubMedCrossRefGoogle Scholar
  66. 66.
    Ahluwalia J, Ly JQ, Norman E, Costello RF Jr, Beall DP. Gnathodiaphyseal dysplasia. Clin Imag. 2007; 31:67–9.Google Scholar
  67. 67.
    Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, et al. The novel gene encoding transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004;74:1255–61.PubMedCentralPubMedCrossRefGoogle Scholar
  68. 68.
    Mizuta K, Tsutsumi S, Inoue H, Sakamoto Y, Miyataki K, et al. Molecular characterization of GDD1/TMEM16E, the gene product responsible for autosomal dominant gnathodiaphyeal dysplasia. BBRC. 2007;357:126–32.PubMedGoogle Scholar

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© Springer Science+Business Media New York 2014

Authors and Affiliations

  1. 1.Department of Pathology and ImmunologyWashington University School of MedicineSt. LouisUSA

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