Skip to main content
Top
Published in: Skeletal Radiology 12/2005

01-12-2005 | Case Report

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

Authors: Francisco J. Martínez-Tello, Palmira Manjón-Luengo, Manuel Martin-Pérez, Santiago Montes-Moreno

Published in: Skeletal Radiology | Issue 12/2005

Login to get access

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.
Literature
1.
go back to reference Batsakis JG. Tumors of the head and neck: clinical and pathological considerations. 2nd ed. Baltimore: Williams & Wilkins; 1979. p. 402–404 Batsakis JG. Tumors of the head and neck: clinical and pathological considerations. 2nd ed. Baltimore: Williams & Wilkins; 1979. p. 402–404
2.
go back to reference 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 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.
go back to reference 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; 73:369–374CrossRefPubMed 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; 73:369–374CrossRefPubMed
4.
go back to reference Gorlin RJ, Cohen MM Jr, Levin S. Syndromes of the head and neck. 3rd ed. Oxford: Oxford University Press; 1990. pp. 392–399 Gorlin RJ, Cohen MM Jr, Levin S. Syndromes of the head and neck. 3rd ed. Oxford: Oxford University Press; 1990. pp. 392–399
5.
go back to reference Cohen MM, Gorlin RJ. Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet 1991; 40:159–156CrossRefPubMed Cohen MM, Gorlin RJ. Noonan-like/multiple giant cell lesion syndrome. Am J Med Genet 1991; 40:159–156CrossRefPubMed
6.
go back to reference 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; 121:37–40CrossRef 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; 121:37–40CrossRef
7.
go back to reference Zacharides B, Papanicolau S, Xypolyta A, Constantinidis I, Cherubism. Int J Oral Surg 1985; 14:138–145PubMed Zacharides B, Papanicolau S, Xypolyta A, Constantinidis I, Cherubism. Int J Oral Surg 1985; 14:138–145PubMed
8.
go back to reference Grunebaum M, Tiqva P. Non-familial cherubism: report of two cases. J Oral Surg 1973; 31:632–635PubMed Grunebaum M, Tiqva P. Non-familial cherubism: report of two cases. J Oral Surg 1973; 31:632–635PubMed
9.
go back to reference Beaman FD, Bancroft LW, Peterson JJ, Kransdorf MJ, Murphy MD, Menke DM. Imaging characteristics of cherubism. AJR Am J Roentgenol 2004; 182:1051–1054PubMed Beaman FD, Bancroft LW, Peterson JJ, Kransdorf MJ, Murphy MD, Menke DM. Imaging characteristics of cherubism. AJR Am J Roentgenol 2004; 182:1051–1054PubMed
10.
go back to reference Bianchi SD, Boccardi A, Mela F, Romagnoli R. The computed tomographic appearance of cherubism. Skeletal Radiol 1987; 16:6-10CrossRefPubMed Bianchi SD, Boccardi A, Mela F, Romagnoli R. The computed tomographic appearance of cherubism. Skeletal Radiol 1987; 16:6-10CrossRefPubMed
11.
go back to reference 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 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.
go back to reference Mirra JM, Gold RH, Rand F. Disseminated nonossifying fibromas in association with café-au-lait spots (Jaffé-Campanacci syndrome). Clin Orthop 1982; 168:192–205PubMed Mirra JM, Gold RH, Rand F. Disseminated nonossifying fibromas in association with café-au-lait spots (Jaffé-Campanacci syndrome). Clin Orthop 1982; 168:192–205PubMed
13.
go back to reference McMahon ME. Albright’s syndrome: 30 years later. Pathol Annu 1971; 6:81–146PubMed McMahon ME. Albright’s syndrome: 30 years later. Pathol Annu 1971; 6:81–146PubMed
14.
go back to reference Jones WA, Gerrie J, Pritchard J. Cherubism a familial fibrous dysplasia of the jaws. J Bone Joint Surg Br 1950; 32:334–347PubMed Jones WA, Gerrie J, Pritchard J. Cherubism a familial fibrous dysplasia of the jaws. J Bone Joint Surg Br 1950; 32:334–347PubMed
15.
go back to reference Yamaguchi T, Dorfman HD, Eisig S. Cherubism: clinicopathological features. Skeletal Radiol 1999; 28:350–353CrossRefPubMed Yamaguchi T, Dorfman HD, Eisig S. Cherubism: clinicopathological features. Skeletal Radiol 1999; 28:350–353CrossRefPubMed
16.
go back to reference Davis GB, Tideman H. Multiple recurrent central giant cell granulomas of the jaws. J Maxillofac Surg 1977; 5:127–129CrossRefPubMed Davis GB, Tideman H. Multiple recurrent central giant cell granulomas of the jaws. J Maxillofac Surg 1977; 5:127–129CrossRefPubMed
17.
go back to reference Cassatly MG, Greenberg AM, Kopp WK. Bilateral giant-cell granulomata of the mandible. JAMA 1988; 117:731–733 Cassatly MG, Greenberg AM, Kopp WK. Bilateral giant-cell granulomata of the mandible. JAMA 1988; 117:731–733
18.
go back to reference Smith PG, Marrogi AJ, Delfino JJ. Multifocal central giant cell lesions of the maxillofacial skeleton. J Oral Maxillofac Surg 1990; 48:300–305PubMedCrossRef Smith PG, Marrogi AJ, Delfino JJ. Multifocal central giant cell lesions of the maxillofacial skeleton. J Oral Maxillofac Surg 1990; 48:300–305PubMedCrossRef
19.
go back to reference 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 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
20.
go back to reference Colley A, Donnai D, Evans DGR. Neurofibromatosis/Noonan phenotype: a variable feature of type I neurofibromatosis. Clin Genet 1996; 49:59–64PubMedCrossRef Colley A, Donnai D, Evans DGR. Neurofibromatosis/Noonan phenotype: a variable feature of type I neurofibromatosis. Clin Genet 1996; 49:59–64PubMedCrossRef
21.
go back to reference 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; 23:32–36CrossRef 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; 23:32–36CrossRef
22.
go back to reference 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; 87:67–72CrossRefPubMed 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; 87:67–72CrossRefPubMed
23.
go back to reference Baker D, Wright E, Nguyen L et al. Gene for von Recklinghausen neurofibromatosis in the pericentromeric region of chromosome 17. Science 1987; 236:1100–1102PubMedCrossRef Baker D, Wright E, Nguyen L et al. Gene for von Recklinghausen neurofibromatosis in the pericentromeric region of chromosome 17. Science 1987; 236:1100–1102PubMedCrossRef
24.
go back to reference Mangion J, Rhaman N, Edkins S et al. The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet 1999; 65:151–157CrossRefPubMed Mangion J, Rhaman N, Edkins S et al. The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet 1999; 65:151–157CrossRefPubMed
25.
go back to reference Tiziani V, Reichenberger E, Buzzo CL et al. The gene for cherubism maps to chromosome 4p16. Am J Hum Genet 1999; 65:158–166CrossRefPubMed Tiziani V, Reichenberger E, Buzzo CL et al. The gene for cherubism maps to chromosome 4p16. Am J Hum Genet 1999; 65:158–166CrossRefPubMed
Metadata
Title
Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: A previously undescribed association of findings
Authors
Francisco J. Martínez-Tello
Palmira Manjón-Luengo
Manuel Martin-Pérez
Santiago Montes-Moreno
Publication date
01-12-2005
Publisher
Springer-Verlag
Published in
Skeletal Radiology / Issue 12/2005
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI
https://doi.org/10.1007/s00256-005-0938-3

Other articles of this Issue 12/2005

Skeletal Radiology 12/2005 Go to the issue