Cherubism

Definition: It is a autosomal dominant fibro-osseous  benign hereditary condition which affects only the jaw bones and it is characterized by “bilaterally symmetrical enlargement” of mandible sometimes maxilla.

Pathogenesis: Cherubism is a hereditary disease which is histologically similar to Central Giant cell granuloma occurs due to the following reasons:

Differential Diagnosis:
Giant Cell Granulomas of Jaw
Osteoclastoma
Aneurysmal Bone Cyst
Fibrous Dysplasia
Hyperparathyroidism

Etiology:

• Anomalous development of bone
• Hormone dependant neoplasm
• Trauma
• Disturbance in bone development

Clinical Features:

• Age: Clinical features start after the age of 3yrs and growth starts to decrease when patient reaches 5yrs of age and stops at 12-15yrs of age
• Sex: Males > Females
• The earlier the lesion appears the more rapidly it progresses
• Jaw lesions are usually Painless and Symmetric
• The swelling is not appreciated in the beginning as it mostly occurs in children, it is noticed only when the mandibular swelling becomes large and detectable in the 3rd decade of life.
• In case of maxillary swelling the pressure on the floor of orbit may result in upward looking pupil which is refereed to as “heaven ward look” (can be seen clearly in the image below), the maxillary arch achieves a V ahaped appearance
• Increased cheek fullness, expansion and widening of alveolar ridge, flattening of the palatal vault.
• Sub Mandibular swelling which is due to chronic lymphadenopathy
• Bilaterally symmetrical enlargement of the jaw
• The main diagnostic features are related to Dental problems –
• Premature exfoliation of  deciduous teeth
• Abnormal growth of permanent teeth due to displacement by cysts and lesions
• Absence of 2nd and 3rd mandibular molars

© Wikipedia - Cherubism

Grading of Cherubism:
Grade I: Involvement of both mandibular ascending Rami
Grade II: Involvement of both maxillary tuberosities and the mandibular ascending rami
Grade III: Involvement of whole maxilla and mandible except the

Radiographic Features:
Bilateral multilocular cystic expansion of the jaws
Lesions first seen: In the Posterior Body of mandible and ascending Rami, maxillary lesion also occur at the same time but remain undetected due to overlap by Sinus and nasal cavity
Floating Tooth syndrome: Numerous unerupted teeth, destruction of alveolar bone displacing the teeth
The cystic space become re-ossified in adulthood which leads to patchy sclerosis.
Ground Glass Appearance: Because of the small, tightly compressed trabecular pattern

Histologic Features:
Multinucleated Giant Cells are seen which are similar to osteoclasts
Collagenous Stroma: contains numerous spindle shaped fibroblasts, water logged and granular in nature
Numerous small vessels and capillaries are present exhibiting large endothelial cells and perivascular cuffing.
Eosinophilic Cuffing: It is characteristic of Cherubism
Healing lesions show: Increase in fibrous tissue and a decrease in number of Giant cells, formation of New bone

Treatment:
Surgery may be preferred between the age of 5-15 yrs
And Cosmetic surgery in adulthood is preferred after the progression has ceased.