Cherubism

Cherubism is a rare inherited disorder in which lesions in the jaws cause symmetrical facial swelling, usually beginning in childhood and often stabilizing after puberty.

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SH3BP2: A signaling protein encoded by a gene whose mutations cause most cases of cherubism. Cherubism-causing variants alter this protein’s signaling in bone and immune cells.
Mandible: The lower jawbone, which supports the lower teeth and forms part of the face. Cherubism commonly expands the mandible, especially its posterior regions.
Panoramic radiography: An imaging technique that produces a broad curved view of the teeth and jaws. It can reveal the bilateral, multilocular jaw lesions characteristic of cherubism.
Painless jaw swelling: An enlargement of the jaw that occurs without pain or tenderness. Cherubism often first presents as painless, symmetric swelling in early childhood.
Osteoclast: A cell that breaks down bone during skeletal growth and remodeling. Overactive osteoclasts contribute to the jawbone resorption seen in cherubism.
Maxilla: The upper jawbone, which supports the upper teeth and contributes to the eye sockets and nasal cavity. Lesions may also expand the maxilla, producing fullness in the midface.
Computed tomography: An imaging method that reconstructs cross-sectional views of the body from X-ray measurements. It shows lesion extent and effects on teeth, sinuses, and surrounding facial structures.
Multilocular radiolucency: An imaging pattern of multiple adjoining radiolucent compartments within bone. This pattern can appear in cherubism lesions and gives the jaw a soap-bubble appearance.
Osteoblast: A cell that forms new bone by producing and mineralizing bone matrix. Osteoblast activity helps determine how lesions remodel as cherubism stabilizes.
Giant cell lesion: A tissue lesion characterized by numerous multinucleated giant cells among other cells. Cherubism lesions belong to this histologic family and are identified in tissue samples.