cherubism

Pathology

• excessive bone degradation of the upper & lower jaw, followed by development of fibrous tissue masses, which results in characteristic facial swelling

Genetics

• autosomal dominant
• associated with mutations in SH3BP2 gene

Clinical manifestations

• swelling of the lower face begins about the 3rd or 4th year of life & progresses into adolescence
• the enlargement may be exaggerated by enlargement of submandibular lymph nodes
• swelling generally abates by 3rd decade of life

Radiology

• X-ray reveals multilocular cystic changes in the mandible & maxilla & often in the anterior ends of the ribs.
• radiographic changes commonly persist into the 4th decade of life

Differential diagnosis

• Caffey disease
  • in which x-ray appearance is different & involvement of the skeleton, e.g., the tibia, is more widespread

Management

• benign self-limited condition

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• SH3 domain-binding protein 2; 3BP-2 (SH3BP2 3BP2 RES4-23)

Database

• OMIM: https://mirror.omim.org/entry/118400