Cherubism
| Cherubism | |
|---|---|
 |
|
| A 37-year-old woman exhibiting symptoms of mild cherubism | |
| Classification and external resources | |
| Specialty | gastroenterology |
| ICD-10 | K10.8 |
| ICD-9-CM | 526.89 |
| OMIM | 118400 |
| DiseasesDB | 31217 |
| MedlinePlus | 001234 |
| eMedicine | radio/284 |
| MeSH | D002636 |
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 putti, often confused with cherubs, in Renaissance paintings.
"Cherubism" was first coined and documented in 1933 by Dr. W. A. Jones of Kingston, Ontario, describing a case of three siblings of the same family of Jewish Russian heritage. All that was known at the time was the characteristic swelling pattern and the increase and then regress of bone lesions. By the time the children reached the ages of fifteen, sixteen, and seventeen, the facial deformity had become "grotesque", 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.
The appearance of people with the disorder is caused by a loss of bone in the mandible which the body replaces with excessive amounts of fibrous tissue. In most cases, the condition fades as the child grows, but in a few even rarer cases the condition continues to deform the affected person's face. Cherubism also causes premature loss of the primary teeth and uneruption of the permanent teeth.
The disease 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. The degrees of Cherubism vary from mild to severe. Osteoclastic and osteoblastic remodeling contributes to the change of normal bone to fibrous tissue and cyst formation. As noted by the name, the patient's face becomes enlarged and disproportionate due to the fibrous tissue and atypical bone formation. The sponge-like bone formations lead to early tooth loss and permanent tooth eruption problems. The disease also affects the orbital area, creating an upturned eye appearance. The cause of cherubism is believed to be traced to a genetic defect resulting from a mutation of the SH3BP2 gene from chromosome 4p16.3. While the disease 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 disease is also one of the few that unexpectedly stops and regresses. Normal bone remodeling activity may resume after puberty.
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