cherubism

Cherubism:
best clinical practice. Noonan/multiple giant cell lesion syndrome. A 20-year old woman with Noonan/multiple giant cell lesion syndrome with bilateral involvement of the mandible and the maxilla. A and B. Frontal and submental photographs reveal prominent maxillary and mandibular contours, slight frontal bossing and increased intercanthal distance, downslanting palpebral features, epicanthal folds and posteriorly angulated ears. Lesions were painless to palpation. C and D. Coronal and 3D CT scan at initial presentation demonstrate involvement of the maxilla, including the maxillary sinuses and the nasal-maxillary region and the mandible from the antegonial notch to antegonial notch. The lesions are expansile and mixed radiolucent - radiopaque with cortical thinning and expansion into the orbits bilaterally. Patient was positive for a Noonan syndrome mutation in SOS-1. She underwent a contour resection of the maxillary and the mandibular giant cell lesions in two sessions. Postoperatively, she was treated with 4 courses of zoledronic acid, given at 6-week-intervals. E and F. Post-treatment frontal and submental photographs.
ojrd.biomedcentral.com • CC-by-2.0
panoramic
radiophotographic findings of 37 years old woman diagnosed with cherubism
Wikipedia • CC BY 2.0
Three-dimensional
computed tomography in a 41 years old woman of China origin diagnosed with cherubism shows a remarkable expansion of the mandible, which can lead to a soap bubble appearance and the bilateral bulges of the maxilla
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Variable
expressivity familial cherubism: woman transmitting cherubism without suffering the disease. Panoramic radiography of the uncle affected.
head-face-med.biomedcentral.com • CC-by-2.0
Variable
expressivity familial cherubism: woman transmitting cherubism without suffering the disease. Panoramic radiography of the nephew, affected. Arrow: follicular cyst in piece 43. Asterisks: odontogenic cysts in posterior mandibular regions and right mandibular area.
head-face-med.biomedcentral.com • CC-by-2.0
Cherubism as
a systemic skeletal disease: evidence from an aggressive case. Classic features of severe cherubism. a and b Clinical and radiological cherubism features. Coronal preoperative CT scan (a) showing multilocular tissue expansion developing into the maxilla and the mandible, with osteolysis and cortical bone expansion (arrows), tooth displacements (arrow heads), and elevation of the orbital floors (*). Intraoral examination (b), showing symmetrical enlargement of the maxilla and mandible causing proptosis and glossoptosis due to expansion through the floor of the mouth (dotted arrow).
bmcmusculoskeletdisord.biomedcentral.com • CC-by-4.0
Masses of
developmental and genetic origin affecting the paediatric craniofacial skeleton. An 8-year-old boy with progressive painless and symmetric bilateral facial enlargement. a Translucent cone beam CT (CBCT) thick-slab reconstruction shows well-defined bilateral multilocular radiolucencies with deformation and symmetric bilateral enlargement of the mandible and maxilla, and dental abnormalities (displaced permanent teeth and unerupted first molars). Axial (b) and coronal (c) CBCT images show multilocular pseudocystic osteolytic lesions with a few irregular bony septa (asterisks), no periosteal reaction, teeth displacement and inferior alveolar nerve canal invasion. d Hypertrophic osteolytic mandibular and maxillary lesions typical of cherub face as seen on the three-dimensional CBCT reconstruction
insightsimaging.springeropen.com • Open Access
Cherubism:
best clinical practice. Imaging studies of the patient in Figure 3 pre-treatment (A, C, E) and post-treatment (B, D, F). A and B. Panoramic radiographs. C and D. Lateral cephalograms. E and F. 3D CT scans. Pre- and post-treatment images show improvement of the giant cell lesions and the contours of the mandible.
ojrd.biomedcentral.com • CC-by-2.0
Cherubism:
best clinical practice. Cherubism. A 5 year old boy who after a mild trauma underwent a dental evaluation. A. Examination revealed marked fullness of the cheeks, expansion of the malar eminences and the mandibular angle regions. B. Intraoral examination was significant for expansion of the mandibular alveolus in the permanent molar regions. C and D. Panoramic radiograph revealed bilateral radiolucent lesions in the mandible and maxilla (arrows). The lesions were displacing the permanent second molar tooth buds superior to the first molar teeth. E and F. Intraoral biopsy and removal of the displaced second molar tooth buds leaving the first molar tooth buds in place to erupt. Pathologic diagnosis was fibro-osseous lesion consistent with cherubism.
ojrd.biomedcentral.com • CC-by-2.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Cherubism has historically been considered a variant of fibrous dysplasia, but in reality is likely a distinct entity.

Epidemiology

Cherubism is a rare disorder and the precise incidence is unknown. It is inherited in an autosomal dominant pattern and has variable penetrance, with onset in early childhood (typically in the 3-4 years of age). Interestingly, penetrance is dependent on gender: 100% in males, 50-70% in females.

Clinical presentation

Clinical presentation is due to characteristic cosmetic changes in the face, consisting of:

  • bilateral, usually symmetric, jaw fullness with a slight upward turning of eyes
  • bilateral expansile multiloculated cystic masses with symmetric involvement of mandible and maxilla

Additionally, submandibular lymph node enlargement may also be present . The teeth in the affected regions may be loose, and tooth eruption delayed .

Pathology

Although the precise mechanism is unclear, an underlying SH3BP2 gene mutation is present in approximately 80% of cases .

Histological features are indistinguishable from a giant cell granuloma .

Radiographic features

Radiographic features consist of lucent expanded regions within the maxilla and mandible, with soap-bubble appearance. As the lesion ages, it often becomes sclerotic and may reduce in size .

Treatment and prognosis

Despite the pronounced changes, the disease stabilizes and often regresses without the need for treatment. Studies have shown a marked reduction in tumor size with imatinib, a tyrosine kinase inhibitor .

History and etymology

A cherub is a toddler or baby angel, often portrayed in art to have chubby cheeks and an upward gaze. In fact, such a divine being is more accurately called a putto, but in modern English usage the terms have become blurred, and patients with cherubism are implied to have cherub-like faces.

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Assoziationen und Differentialdiagnosen zu Cherubismus: