Skip to main content

Advertisement

SpringerLink
Log in

Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report

  • Case Report
  • Published:
Head and Neck Pathology Aims and scope Submit manuscript

Abstract

Cherubism is an inherited, autosomal dominant disorder that characteristically affects the jaws of children. The disease typically manifest as a bilateral swelling with associated submandibular lymph node enlargements and usually regresses as age advances. The disease is microscopically indistinguishable from other giant cell lesions and is essentially a clinical diagnosis. The association of cherubism with gingival fibromatosis, epilepsy, mental retardation, stunted growth, and hypertrichosis is referred as Ramon syndrome. We report a case of Ramon syndrome in an 8 year old girl.

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
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6

References

  1. Jones WA. Famililal multilocular cystic disease of the jaw. Am J Cancer. 1933;17:946–50.

    Google Scholar 

  2. Penarrocha M, Bonet J, Minguez JM, et al. Cherubism: a clinical, radiologic and histopathologic comparison of 7 cases. J Oral Maxillofac Surg. 2006;64:924–30.

    Article  PubMed  Google Scholar 

  3. Meng XM, Yu SF, Yu GY. Clinicopathologic study of 24 cases of cherubism. Int J Oral Maxillofac Surg. 2005;34:350–6.

    Article  PubMed  Google Scholar 

  4. Pontes FSC, Ferreira AC, Kato AM, et al. Aggressive case of cherubism: 17 year follow-up. Int J Pediatr Otorhinolaryngol. 2007;71:831–5.

    Article  PubMed  Google Scholar 

  5. Roginsky VV, Ivanov AL, Ovtchinnikov IA, et al. Familial cherubism: the experience of the Moscow central institute of stomatology and maxillo-facial surgery. Int J Oral Maxillofac Surg. 2009;38:218–23.

    Article  CAS  PubMed  Google Scholar 

  6. Hawes MJ. Cherubism and its orbital manifestations. Ophthal Plast Recontr Surg. 1989;5:133–40.

    CAS  Google Scholar 

  7. Mangion J, Rahman N, Edkins R, et al. The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet. 1999;65:151–7.

    Article  CAS  PubMed  Google Scholar 

  8. Ramon Y, Berman W, Bubus JJ. Gingival fibromatosis combined with cherubism. Oral Surg Oral Med Oral Pathol. 1967;24:436–48.

    Article  Google Scholar 

  9. Pina-Neto JM, Moreno AFC, Silva LR, et al. Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. Am J Med Gent. 1986;25:433–41.

    Article  CAS  Google Scholar 

  10. Primdore C, Baraitser M, Leonard J. Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs. Clin Dysmorph. 1992;1:29–35.

    Google Scholar 

  11. Lannon DA, Early MJ. Cherubism and its charlatans. Br J Plast Surg. 2001;54:708–31.

    Article  CAS  PubMed  Google Scholar 

  12. Kruse Loseler B, Diallo R, Gaertner C, et al. Central giant cell granuloma of the jaws: a clinical, radiologic, and histopathologic study of 26 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101:346–54.

    Article  Google Scholar 

  13. Ozkan Y, Varol A, Turker N, et al. Clinical and radiological evaluation of cherubism: a sporadic case report and review of literature. Int J Pediatr Otorhinolaryngol. 2003;67:1005–12.

    Article  PubMed  Google Scholar 

  14. Beaman FD, Bancroft LW, Peterson JJ, et al. Imaging characteristics of cherubism. AJR. 2004;182:1051–4.

    PubMed  Google Scholar 

  15. Hakkinen L, Csiszar A. Hereditary gingival fibromatosis: characteristics and novel putative pathogenic mechanisms. J Dent Res. 2007;86:25–34.

    Article  CAS  PubMed  Google Scholar 

  16. Sharma S, Dasroy SK. Images in clinical medicine. Gingival hyperplasia induced by phenytoin. N Engl J Med. 2000;342:325.

    Article  CAS  PubMed  Google Scholar 

  17. Brunsvold M, Tomasovic J, Ruemping D. Measured effect of phenytoin withdrawl on gingival hyperplasia in children. ASDC J Dent Child. 1985;52:417–21.

    CAS  PubMed  Google Scholar 

  18. Anavi Y, Lerman P, Mintz S, et al. Idiopathic familial gingival fibromatosis associated with mental retardation, epilepsy and hypertrichosis. Dev Med Child Neurol. 1989;31:538–42.

    Article  CAS  PubMed  Google Scholar 

  19. Takagi M, Yamamoto H, Mega H, et al. Heterogeneity in the gingival fibromatoses. Cancer. 1991;68:2202–12.

    Article  CAS  PubMed  Google Scholar 

  20. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM.

  21. Pina-Neto JM, de Souza NV, Velludo MA, et al. Retinal changes and tumorigenesis in Ramon syndrome: follow-up of a Brazilian family. Am J Med Genet. 1998;77:43–6.

    Article  PubMed  Google Scholar 

  22. Parkin B, Law C. Axenfeld anomaly and retinal changes in Ramon syndrome: follow-up of two sibs. Am J Med Genet. 2001;104:131–4.

    Article  CAS  PubMed  Google Scholar 

  23. Hallet KB, Bankier A, Chow CW, et al. Gingival fibromatosis and Klippel-Trenaunay-Weber syndrome. Oral Surg Oral Med Oral Pathol Oral Radio Endod. 1995;79:578–82.

    Article  Google Scholar 

  24. Yalcin S, Yalcin F, Soydinc M, et al. Gingival fibromatosis combined with cherubism and psychomotor retardation: a rare syndrome. J Periodontol. 1999;70:201–4.

    Article  CAS  PubMed  Google Scholar 

  25. Martinez-Tello M, Manjon-Luengo P, Martin-Perez M, Montes-Moreno S. Cherubism associated with neurofibromatosis type 1 and multiple osteolytic lesions of both femurs: a previously undescribed association of findings. Skeletal Radiol. 2005;34:793–8.

    Article  PubMed  Google Scholar 

  26. Van Capelle CI, Hogeman PH, van der Sijs-Bos CJ, et al. Neurofibromatosis presenting with a cherubism phenotype. Eur J Pediatr. 2007;166:905–9.

    Article  PubMed  Google Scholar 

  27. Quan F, Grompe M, Jokobs P, et al. Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism. Hum Mol Genet. 1995;4:1681–4.

    Article  CAS  PubMed  Google Scholar 

  28. Synder CH. Syndrome of gingival hyperplasia, hirsutism, and convulsions; dilantin intoxication without dilantin. J Pediatr. 1965;67:499–502.

    Article  Google Scholar 

  29. Kiss P. Gingival fibromatosis, mental retardation, epilepsy and hypertrichosis. Dev Med Child Neurol. 1990;32:459–60.

    CAS  PubMed  Google Scholar 

  30. Gohlich-Ratmann G, Lackner A, Schaper J, et al. Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entitiy or variant of a described condition? Am J Med Genet. 2000;27(95):241–6.

    Article  Google Scholar 

  31. Douzgou S, Mingarelli R, Dallapiccola B. Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview. Clin Dysmorph. 2009;18:205–8.

    Article  PubMed  Google Scholar 

  32. Hart TC, Pallos D, Bowden DW, et al. Genetic linkage of hereditary gingival fibromatosis to chromosome 2p21. Am J Hum Genet. 1998;62:876–83.

    Article  CAS  PubMed  Google Scholar 

  33. Shah N, Handa KK, Sharma MC. Malignant mesenchymal tumor arising from cherubism: a case report. J Oral Maxillofac Surg. 2004;62:744–9.

    Article  PubMed  Google Scholar 

  34. de Lange J, van Maarle MC, van den Akker HP, et al. DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma. Br J Oral Maxillofac Surg. 2007;45:499–500.

    Article  PubMed  Google Scholar 

  35. Idowu BD, Thomas G, Frow R, Diss TC, et al. Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw. Br J Oral Maxillofac Surg. 2008;46:229–30.

    Article  PubMed  Google Scholar 

  36. Carvalho VM, Peredigao PF, Amaral FR, et al. Novel mutations in SH3BP2 gene associated with sporadic central giant cell lesions and cherubism. Oral Dis. 2009;15:106–10.

    Article  CAS  PubMed  Google Scholar 

  37. Hycke P, Berndt A, Schleier P, et al. Cherubism–new hypotheses on pathogenesis and therapeutic consequences. J Cranio-Maxillofac Surg. 2005;33:61–8.

    Article  Google Scholar 

  38. Silva GCC, Gomez RS, Vieira TC, et al. Cherubism: long term follow up of 2 patients in whom it regressed without treatment. Br J Oral Maxillofac Surg. 2007;45:567–70.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Oral Medicine and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai, 600 003, India

    J. Suhanya & S. Jayachandran

  2. Department of Oral and Maxillofacial Pathology, Tamil Nadu Government Dental College and Hospital, Chennai, 600 003, India

    Chakshu Aggarwal, Khadijah Mohideen & I. Ponniah

Authors
  1. J. Suhanya
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Chakshu Aggarwal
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Khadijah Mohideen
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S. Jayachandran
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. I. Ponniah
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to I. Ponniah.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Suhanya, J., Aggarwal, C., Mohideen, K. et al. Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report. Head and Neck Pathol 4, 126–131 (2010). https://doi.org/10.1007/s12105-009-0155-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12105-009-0155-9

Keywords

Search

Navigation