A 21-year-old female visited our hospital with cosmetic concerns regarding her expanded mandible. Although she had noticed some facial deformity since she was 6 years old, she did not seek medical attention. When she was around 20 years old, she became more concerned about the noticeable gradual expansion of the mandible. There was no family history of enlarged mandibles. Physical examination revealed a bilateral hard bony swelling of the face and a right exophthalmos. There were no signs of pain or paralysis in the orofacial area nor abnormalities in visual field and acuity. After 2 months of her initial visit, the patient underwent plastic surgery to correct cosmetic deformities by removing bilateral fibrous lesions of the mandible and maxilla. Hematoxylin and eosin (H&E) staining of surgical specimen revealed fibrous stromal tissue that contained a large number of multinucleated giant cells. Sequencing of genomic DNA from blood cells detected a heterozygous missense mutation in the gene coding for SH3 domain-binding protein 2 (SH3BP2) that causes an amino acid substitution from proline to arginine at amino acid position 418, confirming cherubism.
KeywordsSH3BP2 Autoinflammation Macrophages Osteoclasts Bone destruction
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