Cherubism is an inherited childhood disease which affects the jawbone. The condition results in a loss of bone in the jaws which is quickly replaced by fibrous tissue. It involves the bone formation of both the maxilla, or upper jaw, and the mandible, or lower jaw. The benign, fibrous tumors in the jaws make the cheeks swell, and the swelling forces the eyeballs to look slightly upward. The condition, which was first recognized in 1933, got its name because the chubby cheeks and upturned eyes made the patients look like cherubs from a religious painting.
Cherubism is an autosomal dominate inherited syndrome, which means that there is one copy of a mutant gene and one copy of a normal gene on the chromosome. Autosomal dominate genetic traits have a fifty-fifty chance of being passed on from a parent to his children. Tests indicate that the condition is usually caused by a mutation of the SH3BP2 genes which are located on chromosome 4p, though some patients with the disease appear to have no mutation of this gene. In those instances, the cause is still unknown.
The disease usually becomes apparent in children between the ages of two and five, when the primary teeth, known as baby teeth, begin to fall out. Diagnosis is usually based upon a physical review, a complete family history, and diagnostic testing. Cherubism can sometimes be seen on an X-ray, where it resembles giant cell lesions of the jaw, such as fibrous dysplasia, another disease which replaces bone with fibrous tumors. Computed tomography (CT) is a better diagnostic choice than an X-ray for cherubism, because the CT is able to record the soft tissue and display the extent of the lesions.
Most cases of cherubism are mild and correct spontaneously after puberty, when the fibrous tissue is gradually replaced by new bone. In fact, the majority of patients show no physical signs of ever having had the disease by adulthood. The fibrous tumors are always benign, and in most cases the swelling is painless. Complications which may occur include malformed teeth, tooth loss, and chronic inflammation of the lymph nodes. Sometimes the jaw movement is so restricted from the swelling that chewing becomes difficult.
Severe cases of cherubism can lead to the degradation, or deterioration, of the jawbone and problems with vision, breathing, swallowing or speech. Treatment is not generally necessary in mild cases, but may be suggested when there is pain, functionally limiting side effects, or extreme distortion of features which causes psychological distress. The most common treatment involves surgically scraping the excess fibrous tissue from the bones. When surgery has been used, it has generally been successful in limiting the progression of the tumors and encouraging bone regeneration. Liposuction has also been chosen when the only reason for intervention was cosmetic.
If a child begins to exhibit the characteristics of cherubism, it is suggested that he be taken to a pediatrician or pediatric dental surgeon for evaluation. While this condition is benign, it is important to eliminate other possible diseases. Once a diagnosis has been made, physicians can help the patient manage the condition until it eventually disappears.