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Erschienen in: Head and Neck Pathology 2/2010

01.06.2010 | Case Report

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

verfasst von: J. Suhanya, Chakshu Aggarwal, Khadijah Mohideen, S. Jayachandran, I. Ponniah

Erschienen in: Head and Neck Pathology | Ausgabe 2/2010

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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.
Literatur
1.
Zurück zum Zitat Jones WA. Famililal multilocular cystic disease of the jaw. Am J Cancer. 1933;17:946–50. Jones WA. Famililal multilocular cystic disease of the jaw. Am J Cancer. 1933;17:946–50.
2.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
3.
Zurück zum Zitat Meng XM, Yu SF, Yu GY. Clinicopathologic study of 24 cases of cherubism. Int J Oral Maxillofac Surg. 2005;34:350–6.CrossRefPubMed Meng XM, Yu SF, Yu GY. Clinicopathologic study of 24 cases of cherubism. Int J Oral Maxillofac Surg. 2005;34:350–6.CrossRefPubMed
4.
Zurück zum Zitat Pontes FSC, Ferreira AC, Kato AM, et al. Aggressive case of cherubism: 17 year follow-up. Int J Pediatr Otorhinolaryngol. 2007;71:831–5.CrossRefPubMed Pontes FSC, Ferreira AC, Kato AM, et al. Aggressive case of cherubism: 17 year follow-up. Int J Pediatr Otorhinolaryngol. 2007;71:831–5.CrossRefPubMed
5.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
6.
Zurück zum Zitat Hawes MJ. Cherubism and its orbital manifestations. Ophthal Plast Recontr Surg. 1989;5:133–40. Hawes MJ. Cherubism and its orbital manifestations. Ophthal Plast Recontr Surg. 1989;5:133–40.
7.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
8.
Zurück zum Zitat Ramon Y, Berman W, Bubus JJ. Gingival fibromatosis combined with cherubism. Oral Surg Oral Med Oral Pathol. 1967;24:436–48.CrossRef Ramon Y, Berman W, Bubus JJ. Gingival fibromatosis combined with cherubism. Oral Surg Oral Med Oral Pathol. 1967;24:436–48.CrossRef
9.
Zurück zum Zitat 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.CrossRef 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.CrossRef
10.
Zurück zum Zitat Primdore C, Baraitser M, Leonard J. Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs. Clin Dysmorph. 1992;1:29–35. Primdore C, Baraitser M, Leonard J. Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs. Clin Dysmorph. 1992;1:29–35.
11.
12.
Zurück zum Zitat 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.CrossRef 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.CrossRef
13.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
14.
Zurück zum Zitat Beaman FD, Bancroft LW, Peterson JJ, et al. Imaging characteristics of cherubism. AJR. 2004;182:1051–4.PubMed Beaman FD, Bancroft LW, Peterson JJ, et al. Imaging characteristics of cherubism. AJR. 2004;182:1051–4.PubMed
15.
Zurück zum Zitat Hakkinen L, Csiszar A. Hereditary gingival fibromatosis: characteristics and novel putative pathogenic mechanisms. J Dent Res. 2007;86:25–34.CrossRefPubMed Hakkinen L, Csiszar A. Hereditary gingival fibromatosis: characteristics and novel putative pathogenic mechanisms. J Dent Res. 2007;86:25–34.CrossRefPubMed
16.
Zurück zum Zitat Sharma S, Dasroy SK. Images in clinical medicine. Gingival hyperplasia induced by phenytoin. N Engl J Med. 2000;342:325.CrossRefPubMed Sharma S, Dasroy SK. Images in clinical medicine. Gingival hyperplasia induced by phenytoin. N Engl J Med. 2000;342:325.CrossRefPubMed
17.
Zurück zum Zitat Brunsvold M, Tomasovic J, Ruemping D. Measured effect of phenytoin withdrawl on gingival hyperplasia in children. ASDC J Dent Child. 1985;52:417–21.PubMed Brunsvold M, Tomasovic J, Ruemping D. Measured effect of phenytoin withdrawl on gingival hyperplasia in children. ASDC J Dent Child. 1985;52:417–21.PubMed
18.
Zurück zum Zitat 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.PubMedCrossRef 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.PubMedCrossRef
19.
Zurück zum Zitat Takagi M, Yamamoto H, Mega H, et al. Heterogeneity in the gingival fibromatoses. Cancer. 1991;68:2202–12.CrossRefPubMed Takagi M, Yamamoto H, Mega H, et al. Heterogeneity in the gingival fibromatoses. Cancer. 1991;68:2202–12.CrossRefPubMed
21.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
22.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
23.
Zurück zum Zitat 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.CrossRef 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.CrossRef
24.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
25.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
26.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
27.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
28.
Zurück zum Zitat Synder CH. Syndrome of gingival hyperplasia, hirsutism, and convulsions; dilantin intoxication without dilantin. J Pediatr. 1965;67:499–502.CrossRef Synder CH. Syndrome of gingival hyperplasia, hirsutism, and convulsions; dilantin intoxication without dilantin. J Pediatr. 1965;67:499–502.CrossRef
29.
Zurück zum Zitat Kiss P. Gingival fibromatosis, mental retardation, epilepsy and hypertrichosis. Dev Med Child Neurol. 1990;32:459–60.PubMed Kiss P. Gingival fibromatosis, mental retardation, epilepsy and hypertrichosis. Dev Med Child Neurol. 1990;32:459–60.PubMed
30.
Zurück zum Zitat 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.CrossRef 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.CrossRef
31.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
32.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
33.
Zurück zum Zitat Shah N, Handa KK, Sharma MC. Malignant mesenchymal tumor arising from cherubism: a case report. J Oral Maxillofac Surg. 2004;62:744–9.CrossRefPubMed Shah N, Handa KK, Sharma MC. Malignant mesenchymal tumor arising from cherubism: a case report. J Oral Maxillofac Surg. 2004;62:744–9.CrossRefPubMed
34.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
35.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
36.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
37.
Zurück zum Zitat Hycke P, Berndt A, Schleier P, et al. Cherubism–new hypotheses on pathogenesis and therapeutic consequences. J Cranio-Maxillofac Surg. 2005;33:61–8.CrossRef Hycke P, Berndt A, Schleier P, et al. Cherubism–new hypotheses on pathogenesis and therapeutic consequences. J Cranio-Maxillofac Surg. 2005;33:61–8.CrossRef
38.
Zurück zum Zitat 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.CrossRefPubMed 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.CrossRefPubMed
Metadaten
Titel
Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report
verfasst von
J. Suhanya
Chakshu Aggarwal
Khadijah Mohideen
S. Jayachandran
I. Ponniah
Publikationsdatum
01.06.2010
Verlag
Humana Press Inc
Erschienen in
Head and Neck Pathology / Ausgabe 2/2010
Elektronische ISSN: 1936-0568
DOI
https://doi.org/10.1007/s12105-009-0155-9

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