What are the clinical manifestations of cherubism?
Clinically, cherubism is characterized by bilateral enlargement of the mandible and/or maxilla, causing a rounded face and swollen cheeks accompanied by upward-looking eyes.
How is cherubism diagnosed?
Diagnosis is based on a combination of clinical signs, family history , radiographic findings (panoramic x-rays , CT scan ), biopsy , and genetic testing . Cherubism is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene .
When does cherubism develop?
People with cherubism show no signs of it at birth. It starts to appear in early childhood, usually between the ages of 2 and 5 years. The tissue growths in the jaw grow rapidly until the child is about 7 or 8 years old. At that point, the tissue usually stops growing or grows more slowly for several years.
Who does cherubism affect?
Cherubism is a rare autosomal dominant disease of the maxilla and mandible. Approximately 200 cases have been reported by medical journals with the majority being males. Cherubism is usually first diagnosed around age 7 and continues through puberty and may or may not continue to advance with age.
What happens in cherubism?
Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.
What causes cherubism?
Cherubism is caused by changes (mutations) in the SH3-domain binding protein 2 (SH3BP2) gene on chromosome 4. The protein encoded by SH3BP2 is important for bone metabolism and remodeling.
What is cherub syndrome?
How is cherubism treated?
Treatment of cherubism consists of local curettage of the lesions, jaw contouring, intralesional steroid injections, and systemic calcitonin administration as well. Calcitonin therapy for central giant cell granuloma of the jaws is well documented, and favorable results have been achieved.
Is cherubism fibrous dysplasia?
Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may present in two distinct forms, a less severe and limited monostotic form, and a more aggressive and more widespread polyostotic form.
How common is polyostotic fibrous dysplasia?
Fibrous dysplasia is rare, accounting for just about 7% of all benign bone tumors. It can affect any bone in the body, but most often occurs in the: Femur (thighbone)
What are the signs and symptoms of cherubism?
The most common symptoms of cherubism are: 1 round, swollen-looking cheeks 2 a wide jaw 3 loose, misplaced, or missing teeth 4 eyes that turn slightly upward (in advanced stages)
What does cherubism do to your lower jaw?
Cherubism is a rare genetic condition that affects the bones of your lower jaw and sometimes upper jaw. The bones are replaced with cyst-like tissue growths that are not as dense. This makes the cheeks look round and swollen, but it is usually painless.
Do you need a biopsy to diagnose cherubism?
Biopsy and histopathologic examination are not required in most cases to establish the diagnosis of cherubism. However, when performed, numerous osteoclast-like multinucleated giant cells in a moderately loose fibrous stroma are present. Thus cherubism is considered to be a fibro-osseous disorder.
What kind of skeletal dysplasia is cherubism?
Cherubism is a skeletal dysplasia characterized by bilateral and symmetric fibro-osseous lesions limited to the mandible and maxilla. In most patients, cherubism is due to dominant mutations in the SH3BP2 gene on chromosome 4p16.3. Affected children appear normal at birth.