Synonyms

• Familial Fibrous dysplasia of jaws
• hereditary cherubism

Category

Syndrome

Behaviour

Benign

Grade

Low

Gender

Both equally

Tissue of Origin

Bone

Epidemiology

• Autosomal dominant genetic disorder of jaw development
• Incidence 1 in 250,000
• SH3BP2 gene mutations
• Bilateral jaw involvement characteristic
• Symptoms usually manifest age 2-4 years

Clinical Features

• Bilateral jaw swelling (cherub-like facies)
• Dental abnormalities (unerupted teeth, crowding)
• Oral mucosa ulceration
• Difficulty eating or speaking if severe
• Progressive in childhood, regress after puberty

Location

• Mandible and maxilla bilaterally
• Ramus and angle most common sites
• Can involve surrounding soft tissues

Imaging

• Panoramic radiograph: multilocular radiolucencies
• CT maxillofacial: assess extent and tooth displacement
• Progressive changes through childhood

Pathology

• Fibrous stroma with multinucleated giant cells
• Hemosiderin deposition
• Benign fibroblastic proliferation

Genetics

• SH3BP2 mutations (autosomal dominant)
• Gain-of-function mutations
• Incomplete penetrance and Variable expression

Treatment

• Observation initially (many regress after puberty)
• Surgical contouring if severe cosmetic or functional impairment
• Orthodontic management of dental anomalies

Prognosis

• Excellent: Benign self-limited lesion
• Usually involute by early adulthood
• No Malignant transformation

Key Points

• SYSTEMIC GENETIC Syndrome
• Bilateral jaw involvement pathognomonic
• Self-limiting with regression after puberty
• SH3BP2 mutations definitive

Workup - Blood Tests

No specific blood tests

Workup - Local Imaging

• Panoramic radiograph
• CT maxillofacial: assess bilateral involvement and tooth position

Workup - Biopsy

Usually not required; biopsy confirms Benign fibromatosis

Workup - Staging

Genetic testing: SH3BP2 sequencing

Workup - Other

• Genetics consultation
• Dental assessment and orthodontics
• Psychological support for cosmetic concerns

Follow-up Summary

• Dental monitoring every 6-12 months
• Imaging every 1-2 years to assess progression/regression
• Orthodontic planning
• Reassurance about self-limited natural history