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Case report: CT features of cherubismAuthors: Avinash R Kambadakone, Rajgopal V Kadavigere, Raghu R Hosahalli, Sudha S Bhat1PMC ID: 2766909Journal: The Indian Journal of Radiology & ImagingPublisher: Medknow PublicationsLicense: This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permitsunrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.DOI: 10.4103/0971-3026.38506Keywords: Cherubism, CT, fibrossseous neoplasms, mandible, maxilla

Author and article informationAffiliationsDepartment of Radiodiagnosis and Imaging, Kasturba Medical College, Manipal, India[1]Department of Pathology, Kasturba Medical College, Manipal, IndiaAuthor notesCorrespondence: Dr. Avinash R Kambadakone, Division of Abdominal Imaging and Interventional Radiology MassachusettsGeneral Hospital, White 270, 55 Fruit Street, Boston, MA -02114, USA. E-mail: [email protected] ID (nlm-ta): Indian J Radiol ImagingJournal ID (publisher-id): IJRITitle: The Indian Journal of Radiology & ImagingPublisher: Medknow Publications(India)ISSN ( Print ): 0971-3026ISSN ( Electronic ): 1998-3808

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Publication date ( Print ): February 2008Copyright statement: © Indian Journal of Radiology and ImagingCategoriesSubject: Head & Neck RadiologyMain article textCherubism is a rare hereditary disease of non-neoplastic origin seen in childhood and characterized by bilateral bonyenlargement of the jaws.[1] It causes diffuse, bilateral, and multilocular expansion of the mandible and/or maxilla and has acharacteristic radiographic and histopathological appearance.[12] In this case report, we describe the CT features of thisuncommon condition in a 14-year-old girl.Case ReportA 14-year-old girl presented with a history of painless swelling of the jaws since 5 years of age. The swelling was initially in theregion of the parotid and then slowly progressed to involve both sides of the mandible. The patient did not reveal any history ofpain, visual disturbances, or dental complaints. Clinical examination revealed enlargement of the jaws and cheeks by a hard mass,which was seen to involve the body of the mandible and the rami. There was no local tenderness. Mouth opening was adequate,with a ‘V’-arched palate on intraoral examination. Submandibular lymph nodes were palpable bilaterally. Past medical and familyhistories were unremarkable. Hematological and biochemical evaluation, including serum calcium and serum phosphorusconcentrations and alkaline phosphatase activity, were within normal limits.Radiographic examination revealed bilateral, multilocular, and radiolucent lesions with a ground-glass appearance extensivelyinvolving the maxilla and mandible. The mandibular lesions showed expansile osseous remodeling with thinned cortical rims.There was involvement of the body and ramus [Figure 1]. There was consequent obliteration of the maxillary antrum, withdisplacement of the unerupted teeth up to the floor of the orbit. A CT scan showed extensive expansile remodeling of the maxillaand the mandible, with internal trabeculations and a mildly sclerotic matrix [Figure 2], causing obliteration of the maxillaryantrum, with encroachment onto the orbital floor [Figure 3], and consequent bilateral proptosis, which was seen clinically. Therewas no cortical break, fracture, or periosteal reaction seen within the jaw bones. Bilateral condylar extension was characteristicallyabsent [Figure 4]. CT also clearly depicted the absence of extraosseous soft tissue extension. Three-dimensional shaded-surfacerendering showed the characteristic cherubic appearance [Figure 5].


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Figure 1 (A, B)Frontal (A) and oblique (B) radiographs show expansile remodeling of the maxilla and mandible with multilocularradiolucent lesions causing cortical thinning


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Figure 2Axial CT image shows expansile lesions in the mandible and the maxilla, with mildly sclerotic matrix and internaltrabeculations


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Figure 3Coronal CT scan reveals expansile maxillary lesions with obliteration of the antral cavity and extension to the floor of theorbit

Figure 4Coronal CT scan reveals sparing of both mandibular condyles (arrows)


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Figure 5Three-dimensional surface rendering shows expansile osseous remodeling of the jaws

The patient underwent cosmetic shavings of the mandibular lesions. Intraoperatively, multiple cystic cavities filled with cheesymaterial were found within the mandibular lesions. On gross examination of the cut sections, gray-white areas, cartilaginousareas, and hemorrhagic areas were seen. On microscopy, long spicules of lamellar bone lined by osteoblasts were seen. Themarrow spaces were filled with dense spindle cell proliferation, with fascicles of spindle cells arranged in a storiform pattern.Numerous multinucleate osteoclastic giant cells were dispersed throughout the lesion, with focal clustering around areas ofhemorrhage [Figure 6]. Areas of dense fibrosis were also seen.

Figure 6Photomicrograph shows numerous multinucleated giant cells and vascular spaces scattered within a fibrous connectivetissue stroma (hematoxylin and eosin stain; original magnification ×100)

DiscussionCherubism, an inherited, fibroosseous condition, is characterized by firm, painless swellings of the jaw, producing a cherub-likeappearance. It was first described in 1933 by Jones as ‘familial multilocular cystic disease of jaws,’ but the term ‘cherubism’ waslater coined by him in 1948 to describe the classical characteristics of full round cheeks, which resembled those of the cherubsimmortalized by Renaissance art.[3–5] The condition was initially described as hereditary, but both hereditary and sporadic caseshave been described.[5] Cherubism is transmitted as an autosomal dominant trait, with greater penetrance in males (100%) thanin females (50-70%).[6] The enlargement of the jaw bones occurs as an isolated finding and affected children do not have othermental or physical abnormalities.[2] However, it has been occasionally associated with other genetic disorders, such asNoonan-like syndrome or Noonan-like/ multiple giant-cell-like lesion syndrome.[2]It presents in the first few years of life with bilateral expansion of the mandible and/or maxilla, becoming increasingly evident atthe time of puberty.[2] It shows gradual regression thereafter and usually involutes by middle age.[12] The symptoms and signsdepend on the severity of the condition and range from mild to severe deformity of the jaws - sometimes even causingrespiratory distress due to complete nasal obstruction.[78] Dental abnormalities are seen, with serious disturbances in dentition,


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including premature loss of deciduous teeth and displaced, unerupted, or absent permanent teeth with features of malocclusivedentition.[279] The patient in our report presented with painless swelling of the jaws.The diffuse, bilateral, and multilocular nature of this condition is distinctive radiographically, beginning at the angle of mandibleand extending into the ramus and body.[12] Radiologically, the unique features of cherubism include well-defined, mild toextensive, multilocular areas of reduced density, with a few intervening irregular bony septae and expansile remodeling andthinning of the cortical rims.[25] About 60-70% of the lesions may be mildly sclerotic and upto 70% may demonstrate internaltrabeculae.[5] These multilocular areas of diminished densities are later replaced by irregular patchy sclerosis, with progressivecalcification.[2] The classical ground-glass appearance of the lesions is a result of the presence of small tightly compressedtrabeculae.[2] Seward and Hankey[10] have proposed a grading system based on the radiographic location of the lesions in thejaws. It is as follows:Grade I: Involvement of bilateral mandibular molar regions and ascending rami, mandible body, or mentis.Grade II: Involvement of bilateral maxillary tuberosities (in addition to grade 1 lesions) and diffuse mandibular involvement.Grade III: Massive involvement of the entire maxilla and mandible, except the condyles.Grade IV: Involvement of both jaws, including the condyles.According to this grading system, our patient showed Grade III disease.CT clearly depicts the extent of the mandibular and maxillary lesions as compared to plain radiographs; the anatomic complexitymakes interpretation of radiographs of the facial bones difficult.[5] A fibroosseous, mildly sclerotic matrix is typically seen, withexpansile remodeling of the bone and cortical thinning.[5] The lesions in our patient showed a mildly sclerotic matrix. Somereports have also documented soft-tissue density material on CT.[11] In our patient, none of the osseous lesions showed adjacentperiosteal reaction or an associated soft-tissue mass. Though sparing of the mandibular condyles has been described as apathognomonic feature of cherubism, condylar involvement is often seen on CT scan.[12] Condylar involvement was, however,absent in our patient. Encroachment onto the orbital floor from the maxillary lesions was also well seen on the coronal CTreconstructions, but there was no involvement of the orbital structures.There are very few reports describing the MR features of cherubism,[511] which are usually nonspecific. The lesions have beendescribed as being homogenously isointense or heterogeneous on T1W images and heterogeneously isointense or hyperintenseon fat-suppressed spin-echo T2W images.[511]Microscopically, the lesions show numerous multinucleated giant cells and vascular spaces which are randomly distributedagainst a background of fibrous connective tissue.[2] Histochemical and immunohistochemical characterization of themultinucleated giant cells reveals that these are osteoclasts since they are positive for tartrate-resistant acid phosphatase andexpress the vitronectin receptor.[2] The stroma is moderately collagenous and contains focal deposits of hemosiderin pigment.Eosinophilic collagen perivascular cuffing can be seen in some cases and this perivascular hyalinolysis is consideredpathognomonic for cherubism.[1314]Conditions like craniofacial fibrous dysplasia, brown tumor of hyperparathyroidism, and familial gigantiform cementoma canpresent with radiographic features similar to that of cherubism and should be considered in its differential diagnosis.[5]Cherubism and craniofacial fibrous dysplasia can be distinguished clinically and radiographically. Cherubism is characterized bybilateral mandibular involvement, limitation to the maxilla and mandible, and involution at the time of puberty.[5] The clinicalfeatures of cherubism, like swollen cheeks, upward turning of the eyes, and dental derangement, are typically not present infibrous dysplasia. Histologically, numerous multinucleated giant cells are seen in patients with cherubism, while they are rarelyseen in fibrous dysplasia. Brown tumor and Jaffe-Campanacci syndrome can be readily distinguished on clinical grounds. Familialgigantiform cementoma is a rare osseous disorder in which the lesions are primarily located in the maxilla and cause focalenlargement rather than diffuse involvement.[5] Histologically, multinucleated giant cells are absent and the lesions containcementum.[5]Surgical intervention may be undertaken in patients with serious cosmetic or functional problems. Since the lesions undergospontaneous regression it is better if surgical intervention is delayed until after puberty. Curettage or surgical contouring, with orwithout bone grafting, is the treatment of choice.[2]Though the clinical and radiographic characteristics of cherubism strongly suggest the diagnosis, a CT study helps in the accurateevaluation of the osseous extension of the lesions. CT is particularly beneficial for assessing the extension of the lesions into theorbit.


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Jones WA author. Familial multilocular cystic disease of the jaws. Am J Cancer. 1933; Vol. 17:9463. Jones WA, Gerrie J, Pritchard J authors. Cherubism--familial fibrous dysplasia of the jaws. Oral Surg Oral Med Oral Pathol. 1952;Vol. 5:292–305. PubMed

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Beamen FD, Bancroft LW, Peterson JJ, Kransdorf MJ, Murphey MD, Menke DM authors. Imaging characteristics of cherubism.AJR Am J Roentgenol. 2004; Vol. 182:1051–4. PubMed

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Quan F, Grompe M, Jakobs P, Popovich BW authors. Spontaneous deletion in the FMR1gene in a patient with fragile Xsyndrome and cherubism. Hum Mol Genet. 1995; Vol. 4:1681–4. PubMed

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Petkovska L, Ramadan S, Aslam MO authors. Cherubism: Review of four affected members in a Kuwaiti family. Australas Radiol.2004; Vol. 48:408–10. PubMed

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Battaglia A, Merati A, Magit A authors. Cherubism and upper airway obstruction. Otolaryngol Head Neck Surg. 2000; Vol.122:573–4. PubMed

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Yamaguchi T, Dorfman HD, Eisig S authors. Cherubism: Clinicopathologic features. Skeletal Radiol. 1999; Vol. 28:350–3.PubMed

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Seward GR, Hankey GT authors. Cherubism. Oral Surg Oral Med Oral Pathol. 1957; Vol. 10:952–74. PubMed10. Jain V, Sharma R authors. Radiographic, CT and MRI features of cherubism. Pediatr Radiol. 2006; Vol. 36:1099–104. PubMed11. Bianchi SD, Boccardi A, Mela F, Romagnoli R authors. The computed tomographic appearances of cherubism. Skeletal Radiol.1987; Vol. 16:6–10. PubMed

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Penarrocha M, Bonet J, Minguez JM, Bagan JV, Vera F, Minguez I authors. Cherubism: A clinical, radiographic andhistopathologic comparison of 7 cases. J Oral Maxillofac Surg. 2006; Vol. 64:924–30. PubMed

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Hammer JE 3rd author. The demonstration of perivascular collagen deposition in cherubism. Oral Surg Oral Med Oral Pathol.1969; Vol. 27:129–41. PubMed

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FootnotesSource of Support: NilConflict of Interest: None declared.

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