Cherubism is a rare, hereditary disorder affecting the mandible and maxilla.


Chromosome: 4p16.3

Gene: SH3BP2 (SHE-domain binding protein 2)

Mechanism: The mutation in SH3BP2 stimulates RANKL-induced activation of PLC-gamma, with activation of calcineurin and NFAT proteins, which in turn cause osteoclastogenesis (Lietman et al).


Inheritance: autosomal dominant


Clinical features:

(1) The patient presents with painless bilateral enlargement of the mandible and/or maxilla.

(2) It usually appears in early childhood and then spontaneously regresses after puberty.

(3) Affected bone shows multilocular cysts composed of a fibrous stroma and osteoclast-like giant cells forming granuloma-like lesions.


Complications in moderate and severe cases:

(1) dental loss or misalignment

(2) difficulty with speech

(3) difficulty breathing

(4) difficulty eating and swallowing

(5) visual impairment from displacement or compression of globe and/or optic nerve


Therapy may not be required in mild cases. More severe cases may be treated by:

(1) surgery to remove affected tissue with or without bone grafts

(2) administration of calcitonin (may be delivered intransally)


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