Cherubism

Cherubism: Genetic Etiology

Autosomal dominant inheritance
Variable expression and penetrance
Males more commonly affected (2:1) and
with greater severity
Mapped to chromosome 4p16.3
Genomic region for fibroblast growth factor
receptor 3 (FGFR3)2

Cherubism: Onset of Disease
*Appearance of children normal at birth
*Bilateral, symmetrical, indolent swelling of
mandibular body or maxillary tuberosities
*Onset between ages 2 and 73
Cherubism: Clinical Presentation
* Firm painless jaw expansion and
deformity
* Widened alveolar processes
*Inverted V shaped palatal arches
* Premature exfoliation of primary
teeth
* Delayed permanent tooth
eruption
* Teeth displacement or resorption
* Cervical lymphadenopathy
*Condyles spared in most cases
* Hypertelorism
* Rim of sclera visible beneath iris
* eyes to heaven appearance4
Cherubism: Radiographic Findings
Bilateral multilocular cystic expansion of the jaws
Initially posterior body of mandible and rami
Early maxillary involvement obscured by overlap of
sinuses and nasal cavities
Displacement of inferior alveolar canal reported
Displaced teeth with floating tooth syndrome
In adulthood, jaws re-ossify with patchy sclerosis5,6,7,8

Cherubism: Common
Histopathologic Evaluation
*Multiple multinucleated
giant cells together with
ovoid to spindle shaped
cells within a fine
fibrillar collagenous
stroma
*Numerous small vessels
with large endothelial
cells and perivascular
capillary cuffing
*Eosinophilic cuffing
specific for disease5,9
Differential Diagnosis
Cherubism
Giant Cell Tumor
Brown Tumor of Hyperparathyroidism
Central and Peripheral Giant Cell
Granuloma
Fibrous Dysplasia
Aneurysmal Bone Cyst
Osteoclastoma1

Cherubism: Lesion Grading
Grading system developed by Kalantar Motanedi10
Grade I: lesions of mandible without signs of root
resorption
Grade II: mandible and maxilla without root resorption
Grade III: aggressive lesions of mandible with root
resorption
Grade IV: both jaws involved and root resorption present
Grade V: rare, massively growing, aggressive and
deforming juvenile cases involving the maxilla and
mandible and which may include the coronoid process
and condyles

Cherubism: Final Diagnosis
Based on clinical and radiographic
information with support from microscopic
findings
Familial history
Bilateral presentation with defined age
predilection
Blood tests: No change in parathyroid
hormone and calcium levels

Cherubism: Course of Disease
Continued expansion and jaw deformity before
and through puberty
May impair nasal breathing and tongue function
Patients seek medical attention for esthetic and
functional concerns
Gradual regression after puberty
Eventual healing with atrophy of the alveolar
processes and reossification of the jaw bones

Treatment Options
Consultation with orthodontist reveals need for extraction
of first premolars to allow eruption of full permanent
dentition
Removal of #12 and #J to allow eruption of impacted #11
and #13
Curettage of tissue associated with #12
Close monitoring of patient through 6 month recalls to
evaluate any increase in expansion of the mandible
Request biopsy and treatment through surgical means if
expansion increases and causes difficulty with airway or
chewing capacity

Bibliography
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