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.
References
Jones WA. Famililal multilocular cystic disease of the jaw. Am J Cancer. 1933;17:946–50.
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.
Meng XM, Yu SF, Yu GY. Clinicopathologic study of 24 cases of cherubism. Int J Oral Maxillofac Surg. 2005;34:350–6.
Pontes FSC, Ferreira AC, Kato AM, et al. Aggressive case of cherubism: 17 year follow-up. Int J Pediatr Otorhinolaryngol. 2007;71:831–5.
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.
Hawes MJ. Cherubism and its orbital manifestations. Ophthal Plast Recontr Surg. 1989;5:133–40.
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.
Ramon Y, Berman W, Bubus JJ. Gingival fibromatosis combined with cherubism. Oral Surg Oral Med Oral Pathol. 1967;24:436–48.
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.
Primdore C, Baraitser M, Leonard J. Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs. Clin Dysmorph. 1992;1:29–35.
Lannon DA, Early MJ. Cherubism and its charlatans. Br J Plast Surg. 2001;54:708–31.
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.
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.
Beaman FD, Bancroft LW, Peterson JJ, et al. Imaging characteristics of cherubism. AJR. 2004;182:1051–4.
Hakkinen L, Csiszar A. Hereditary gingival fibromatosis: characteristics and novel putative pathogenic mechanisms. J Dent Res. 2007;86:25–34.
Sharma S, Dasroy SK. Images in clinical medicine. Gingival hyperplasia induced by phenytoin. N Engl J Med. 2000;342:325.
Brunsvold M, Tomasovic J, Ruemping D. Measured effect of phenytoin withdrawl on gingival hyperplasia in children. ASDC J Dent Child. 1985;52:417–21.
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.
Takagi M, Yamamoto H, Mega H, et al. Heterogeneity in the gingival fibromatoses. Cancer. 1991;68:2202–12.
Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/sites/entrez?db=OMIM.
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.
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.
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.
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.
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.
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.
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.
Synder CH. Syndrome of gingival hyperplasia, hirsutism, and convulsions; dilantin intoxication without dilantin. J Pediatr. 1965;67:499–502.
Kiss P. Gingival fibromatosis, mental retardation, epilepsy and hypertrichosis. Dev Med Child Neurol. 1990;32:459–60.
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.
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.
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.
Shah N, Handa KK, Sharma MC. Malignant mesenchymal tumor arising from cherubism: a case report. J Oral Maxillofac Surg. 2004;62:744–9.
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.
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.
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.
Hycke P, Berndt A, Schleier P, et al. Cherubism–new hypotheses on pathogenesis and therapeutic consequences. J Cranio-Maxillofac Surg. 2005;33:61–8.
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.
Author information
Authors and Affiliations
Corresponding author
Rights 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
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12105-009-0155-9