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Cherubism
Bernadette L. Koch, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Familial multilocular cystic disease of jaw
              • Familial fibrosis of jaws
              • Familial benign giant-cell tumor of jaw
            • Definitions

              • Familial, bilateral, and symmetric fibroosseous jaw lesions
                • Genetically distinct from fibrous dysplasia (FD)
              • Round face and lower eyelid retraction → eyes raised to heaven or cherub-like appearance

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Microscopic Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Consider

                                    Selected References

                                    1. Papadaki ME et al: Cherubism: best clinical practice. Orphanet J Rare Dis. 7 Suppl 1:S6, 2012
                                    2. Orhan E et al: Idiopathic bilateral central giant cell reparative granuloma of jaws: a case report and literature review. Int J Pediatr Otorhinolaryngol. 74(5):547-52, 2010
                                    3. Mortellaro C et al: Diagnosis and treatment of familial cherubism characterized by early onset and rapid development. J Craniofac Surg. 20(1):116-20, 2009
                                    4. Roginsky VV et al: Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery. Int J Oral Maxillofac Surg. 38(3):218-23, 2009
                                    5. Pontes FS et al: Aggressive case of cherubism: 17-year follow-up. Int J Pediatr Otorhinolaryngol. 71(5):831-5, 2007
                                    6. Jain V et al: Radiographic, CT and MRI features of cherubism. Pediatr Radiol. 36(10):1099-104, 2006
                                    7. Wolvius EB et al: Noonan-like/multiple giant cell lesion syndrome: report of a case and review of the literature. J Oral Maxillofac Surg. 64(8):1289-92, 2006
                                    8. Lee JS et al: Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. J Med Genet. 42(2):e11, 2005
                                    9. Beaman FD et al: Imaging characteristics of cherubism. AJR Am J Roentgenol. 182(4):1051-4, 2004
                                    10. Ozkan Y et al: Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature. Int J Pediatr Otorhinolaryngol. 67(9):1005-12, 2003
                                    11. Lupescu I et al: [Helical CT and diagnostic evaluation of cranio-facial fibrous dysplasia.] J Radiol. 82(2):145-9, 2001
                                    12. Yamaguchi T et al: Cherubism: clinicopathologic features. Skeletal Radiol. 28(6):350-3, 1999
                                    13. Addante RR et al: Cherubism in a patient with Noonan's syndrome. J Oral Maxillofac Surg. 54(2):210-3, 1996
                                    14. Chomette G et al: Cherubism. Histo-enzymological and ultrastructural study. Int J Oral Maxillofac Surg. 17(4):219-23, 1988
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Pathology

                                            • Clinical Issues

                                              TERMINOLOGY

                                              • Synonyms

                                                • Familial multilocular cystic disease of jaw
                                                • Familial fibrosis of jaws
                                                • Familial benign giant-cell tumor of jaw
                                              • Definitions

                                                • Familial, bilateral, and symmetric fibroosseous jaw lesions
                                                  • Genetically distinct from fibrous dysplasia (FD)
                                                • Round face and lower eyelid retraction → eyes raised to heaven or cherub-like appearance

                                              IMAGING

                                              • General Features

                                                • Radiographic Findings

                                                  • CT Findings

                                                    • MR Findings

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Microscopic Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Demographics

                                                                • Natural History & Prognosis

                                                                  • Treatment

                                                                    DIAGNOSTIC CHECKLIST

                                                                    • Consider

                                                                      Selected References

                                                                      1. Papadaki ME et al: Cherubism: best clinical practice. Orphanet J Rare Dis. 7 Suppl 1:S6, 2012
                                                                      2. Orhan E et al: Idiopathic bilateral central giant cell reparative granuloma of jaws: a case report and literature review. Int J Pediatr Otorhinolaryngol. 74(5):547-52, 2010
                                                                      3. Mortellaro C et al: Diagnosis and treatment of familial cherubism characterized by early onset and rapid development. J Craniofac Surg. 20(1):116-20, 2009
                                                                      4. Roginsky VV et al: Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery. Int J Oral Maxillofac Surg. 38(3):218-23, 2009
                                                                      5. Pontes FS et al: Aggressive case of cherubism: 17-year follow-up. Int J Pediatr Otorhinolaryngol. 71(5):831-5, 2007
                                                                      6. Jain V et al: Radiographic, CT and MRI features of cherubism. Pediatr Radiol. 36(10):1099-104, 2006
                                                                      7. Wolvius EB et al: Noonan-like/multiple giant cell lesion syndrome: report of a case and review of the literature. J Oral Maxillofac Surg. 64(8):1289-92, 2006
                                                                      8. Lee JS et al: Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. J Med Genet. 42(2):e11, 2005
                                                                      9. Beaman FD et al: Imaging characteristics of cherubism. AJR Am J Roentgenol. 182(4):1051-4, 2004
                                                                      10. Ozkan Y et al: Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature. Int J Pediatr Otorhinolaryngol. 67(9):1005-12, 2003
                                                                      11. Lupescu I et al: [Helical CT and diagnostic evaluation of cranio-facial fibrous dysplasia.] J Radiol. 82(2):145-9, 2001
                                                                      12. Yamaguchi T et al: Cherubism: clinicopathologic features. Skeletal Radiol. 28(6):350-3, 1999
                                                                      13. Addante RR et al: Cherubism in a patient with Noonan's syndrome. J Oral Maxillofac Surg. 54(2):210-3, 1996
                                                                      14. Chomette G et al: Cherubism. Histo-enzymological and ultrastructural study. Int J Oral Maxillofac Surg. 17(4):219-23, 1988