cherubism

Cherubism is, like Caffey disease, a benign self-limited condition. The disorder has also been called familial benign giant-cell tumor of the jaw, familial multilocular cystic disease of the jaw.

Types

 familial cherubism
 non-familial cherubism

Synopsis

 swelling of the lower face

• begins around the third or fourth year of life and progresses until the late teens.

 round face due to facial swelling
 broad cheeks due to facial swelling
 symmetric, hard, painless, swelling of the jaw region
 maxillary enlargement
 mandibular enlargement
 enlarged submandibular lymph nodes
 proptosis
 upward displacement of the globes
 lower eyelid retraction
 orbital mass
 optic neuropathy
 Marcus-Gunn pupil
 decreased visual acuity
 depressed visual field
 macular striae
 macular scarring
 oligodontia
 agenesis of teeth
 displaced teeth
 loss of bone and replacement by fibrous tissue restricted to jaw
 multilocular radiolucencies in the jaw bones

 X-ray: multilocular cystic changes in the mandible and maxilla and often in the anterior ends of the ribs.

 Histology: multiple osteoclast-like cells in a fibrous and cellular stroma

Differential diagnosis

 Caffey disease (MIM.114000)
 different x-ray appearance
 more widespread involvement of the skeleton, e.g.

Etiology

 Cherubism is caused by mutations in the SH3BP2 gene (MIM.602104) at 4p16.3

• familial
• non-familial (14577811)