Cherubizm u 9-letniej dziewczynki - opis przypadku i systematyczny przeglÄ d piśmiennictwa

Cherubism is a rare autosomal dominant genetic disorder. It is caused by SH3BP2 gene mutation on chromosome 4p16.3. Excessive osteoclast activity usually leads to symmetric bone destruction of the mandible or maxilla and formation of giant cell tumors. Multiple dental disturbances are typical for this disease and changes in the face cause its distinctive look resembling a renaissance cherub. The symptoms usually occur between 2nd and 7th year of age but they spontaneously regress after puberty. We report a 9-year-old patient with recurrent mandible and jaw tumors whose cherubism was diagnosed based on performed tests (including genetic analysis).