Skip to main content

Advertisement

SpringerLink
Log in

Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: A previously undescribed association of findings

  • Case Report
  • Published:
Skeletal Radiology Aims and scope Submit manuscript

Abstract

We present a patient with neurofibromatosis type 1, with the clinical, radiological and histological features of cherubism mandibular lesions, and multiple osteolytic, geographic lesions in both femurs, consistent with multiple non-ossifying fibromas. We have been unable to find a similar case in the world literature. We discuss our findings in relationship with a number of syndromes that present clinical, radiological or pathological similarities.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1 A
Fig. 2 A
Fig. 3
Fig. 4
Fig. 5
Fig. 6 A

Similar content being viewed by others

References

  1. Batsakis JG. Tumors of the head and neck: clinical and pathological considerations. 2nd ed. Baltimore: Williams & Wilkins; 1979. p. 402–404

  2. Barnes L, Verbin RS, Goodman MA, Peel RL, Appel BN. Diseases of the bones and joints. Cherubism. In: Marnes L, editor. Surgical pathology of the head and neck. New York: Dekker; 1985. p. 926–932

  3. Kaugars GE, Niamtu III J, Svirsky JA. Cherubism: diagnosis, treatment, and comparison with central giant cell granulomas and giant cell tumors. Oral Surg Oral Med Oral Pathol 1992; 73:369–374

    Article  PubMed  CAS  Google Scholar 

  4. Gorlin RJ, Cohen MM Jr, Levin S. Syndromes of the head and neck. 3rd ed. Oxford: Oxford University Press; 1990. pp. 392–399

  5. Cohen MM, Gorlin RJ. Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet 1991; 40:159–156

    Article  PubMed  Google Scholar 

  6. Lo B, Faiyaz U, Haque M, Kennedy S, Aviv R, Tsui LC, Teebi AS. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. Am J Med Genet 2003; 121:37–40

    Article  Google Scholar 

  7. Zacharides B, Papanicolau S, Xypolyta A, Constantinidis I, Cherubism. Int J Oral Surg 1985; 14:138–145

    PubMed  Google Scholar 

  8. Grunebaum M, Tiqva P. Non-familial cherubism: report of two cases. J Oral Surg 1973; 31:632–635

    PubMed  CAS  Google Scholar 

  9. Beaman FD, Bancroft LW, Peterson JJ, Kransdorf MJ, Murphy MD, Menke DM. Imaging characteristics of cherubism. AJR Am J Roentgenol 2004; 182:1051–1054

    PubMed  Google Scholar 

  10. Bianchi SD, Boccardi A, Mela F, Romagnoli R. The computed tomographic appearance of cherubism. Skeletal Radiol 1987; 16:6-10

    Article  PubMed  CAS  Google Scholar 

  11. Standish S, Gorlin RJ. Bone disorders affecting the jaws. In: Thomas’s oral pathology. Gorlin RJ, Goldman HL, editors. 6th ed. St Louis: Mosby; 1979. pp. 542–546

  12. Mirra JM, Gold RH, Rand F. Disseminated nonossifying fibromas in association with café-au-lait spots (Jaffé-Campanacci syndrome). Clin Orthop 1982; 168:192–205

    PubMed  Google Scholar 

  13. McMahon ME. Albright’s syndrome: 30 years later. Pathol Annu 1971; 6:81–146

    PubMed  Google Scholar 

  14. Jones WA, Gerrie J, Pritchard J. Cherubism a familial fibrous dysplasia of the jaws. J Bone Joint Surg Br 1950; 32:334–347

    PubMed  Google Scholar 

  15. Yamaguchi T, Dorfman HD, Eisig S. Cherubism: clinicopathological features. Skeletal Radiol 1999; 28:350–353

    Article  PubMed  CAS  Google Scholar 

  16. Davis GB, Tideman H. Multiple recurrent central giant cell granulomas of the jaws. J Maxillofac Surg 1977; 5:127–129

    Article  PubMed  CAS  Google Scholar 

  17. Cassatly MG, Greenberg AM, Kopp WK. Bilateral giant-cell granulomata of the mandible. JAMA 1988; 117:731–733

    CAS  Google Scholar 

  18. Smith PG, Marrogi AJ, Delfino JJ. Multifocal central giant cell lesions of the maxillofacial skeleton. J Oral Maxillofac Surg 1990; 48:300–305

    Article  PubMed  CAS  Google Scholar 

  19. Davis JP, Archer DJ, Fisher C, Wimalawansa SJ, Baldwin D. Multiple recurrent giant cell lesions associated with high circulating levels of parathyroid hormone-related peptide in a young adult. Br J Maxillofac Surg. 1991; 29:102–105

    Google Scholar 

  20. Colley A, Donnai D, Evans DGR. Neurofibromatosis/Noonan phenotype: a variable feature of type I neurofibromatosis. Clin Genet 1996; 49:59–64

    Article  PubMed  CAS  Google Scholar 

  21. Van Damme PhA, Mooren REC. Differentiation of multiple giant cell lesions, Noonan-like syndrome, and (occult) hyperparathyroidism. Case report and review of the literature. Int J Maxillofac Surg 1994; 23:32–36

    Article  Google Scholar 

  22. Ruggeri M, Pavone V, Polizzi A, Albanese S, Magro G, Merino M, Duray P. Unusual form of recurrent giant cell granuloma of the mandible and lower extremities in a patient with neurofibromatosis type 1. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1999; 87:67–72

    Article  PubMed  Google Scholar 

  23. Baker D, Wright E, Nguyen L et al. Gene for von Recklinghausen neurofibromatosis in the pericentromeric region of chromosome 17. Science 1987; 236:1100–1102

    Article  PubMed  Google Scholar 

  24. Mangion J, Rhaman N, Edkins S et al. The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet 1999; 65:151–157

    Article  PubMed  CAS  Google Scholar 

  25. Tiziani V, Reichenberger E, Buzzo CL et al. The gene for cherubism maps to chromosome 4p16. Am J Hum Genet 1999; 65:158–166

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departamento de Anatomía Patológica, Hospital Universitario “12 de Octubre”, Carretera de Andalucía Km. 5400, 28041, Madrid, Spain

    Francisco J. Martínez-Tello

  2. Department of Radiology, Hospital Universitario “12 de Octubre”, Madrid, Spain

    Palmira Manjón-Luengo

  3. Department of Pathology, Hospital Universitario “12 de Octubre”, Madrid, Spain

    Santiago Montes-Moreno

Authors
  1. Francisco J. Martínez-Tello
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Palmira Manjón-Luengo
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Manuel Martin-Pérez
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Santiago Montes-Moreno
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Francisco J. Martínez-Tello.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Martínez-Tello, F.J., Manjón-Luengo, P., Martin-Pérez, M. et al. Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: A previously undescribed association of findings. Skeletal Radiol 34, 793–798 (2005). https://doi.org/10.1007/s00256-005-0938-3

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00256-005-0938-3

Keywords

Search

Navigation