Cherubism

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Cherubism
computed tomograph of a 41-year-old woman diagnosed with cherubism shows a remarkable expansion of the mandible, which can lead to a soap bubble appearance, and the bilateral bulges of the maxilla
SpecialtyMedical genetics

Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to

Renaissance paintings, which were often mistakenly described as cherubs
.

Signs and symptoms

The appearance of people with the disorder is caused by a loss of bone in the

primary teeth and lack of eruption and or displacement of the permanent teeth.[1]

Cherubism is a rare

chromosome 4p16.3.[3] While the condition is rare and painless, the afflicted suffer the emotional trauma of disfigurement. The effects of cherubism may also interfere with normal jaw motion and speech. Currently, removal of the tissue and bone by surgery is the only treatment available. This condition is also one of the few that unexpectedly stops and regresses.[4]
Normal bone remodeling activity may resume after puberty.

Cherubism is displayed with genetic conformation and when excessive osteoclasts are found in the affected areas of the mandible and maxilla. Large cysts will be present with excessive fibrous areas inside the bone. The fibers and cysts will be found among the

body of mandible and the maxilla regions. The maxilla will be affected up to and including the orbits and sometimes inside the lower orbits.[5] The maxilla and zygomatic bones are depressed and eyes appear to gaze upward.[6]
The maxilla has been found to be more severely affected in most cases than the mandible bone. Some patients found with lower inner orbital growths and cysts may lose vision.

Causes

Cherubism is

lesions. The disease is expressed at a rate of 80 to 100% of all affected. Studies of multiple generations of families with the gene found that all boys developed cherubism, but 30–50% of girls show no symptoms.[7]

The cause of cherubism is believed to be from a

B cells.[citation needed
]

The effects of SH3BP2 mutations are still under study, but researchers believe that the abnormal protein disrupts critical signaling pathways in cells associated with the maintenance of bone tissue and in some immune system cells. The overactive protein likely causes

fibrous tissue and cyst growth. An excess of these bone-eating cells contributes to the destruction of bone in the upper and lower jaws. A combination of bone loss and inflammation likely underlies the cyst-like growths characteristic of cherubism.[citation needed
]

Diagnosis

The chemical imbalance is usually diagnosed when dental abnormalities are found. These abnormalities include premature deciduous teeth and abnormal growth of permanent teeth due to displacement by cysts and lesions. The only definite way to correctly diagnose the condition is by

CT scans. Neurofibromatosis may resemble cherubism and may accompany the condition. Genetic testing is the final diagnosis tool.[citation needed
]

Prevention

Because this genetic anomaly is genetically linked, genetic counseling may be the only way to decrease occurrences of cherubism. The lack of severe symptoms in the parents may be the cause of failure in recognizing the disorder. The optimal time to be tested for mutations is prior to having children. The disorder results from a genetic mutation, and this gene has been found to spontaneously mutate. Therefore, there may be no prevention techniques available.

Treatment

Because cherubism changes and improves over time, the treatment should be individually determined. Generally, moderate cases are watched until they subside or progress into the more severe range. Severe cases may require surgery to eliminate bulk cysts and fibrous growth of the maxilla and mandible. Surgical

ophthalmologic treatment.[2]

Prognosis

Due to the rarity of the condition, it is difficult to reliably estimate statistics. However, a 2006 study which followed 7 cases over an average of 8.5 years noted that "In general, cherubism does not have a poor prognosis. It has been noted that the condition does not progress beyond puberty. As the patient grows to adulthood, the jawbone lesions tend to resolve, and a progressively more normal jaw configuration is noted."[9]

History

Cherubism was first documented and named in 1933 by Dr. W. A. Jones of

lesions.[10] By the time the children reached the ages of fifteen, sixteen, and seventeen, the facial deformity had become an obvious disfigurement and in 1943, the children were operated on by the Jones medical team, reducing the hard swelling of their jaws. Four years following the surgeries, there was no reappearance of the swellings.[11] Yet, in some cases dysplasia recurred after surgery, necessitating additional surgeries.[citation needed
]

See also

References

  1. S2CID 224856613
    .
  2. ^
    S2CID 42778718
    .
  3. ^
    PMID 17147794
    .
  4. ^
    PMID 10364528
    .
  5. doi:10.3109/01676839709019125
    .
  6. S2CID 71602769
    .
  7. ^ "About Cherubism". FibrousDysplasia.org. Fibrous Dysplasia Foundation. Retrieved 5 November 2017.
  8. S2CID 1563997
    .
  9. PMID 16713807
    .
  10. doi:10.1158/ajc.1933.946
    .
  11. PMID 14778852
    .

Further reading

External links

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