Cherubism
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| Cherubism Classification and external resources | |
| ICD-10 | K10.8 |
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| ICD-9 | 526.89 |
| OMIM | 118400 |
| DiseasesDB | 31217 |
| MedlinePlus | 001234 |
| eMedicine | radio/284 |
| MeSH | D002636 |
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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.
Presentation
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 tissue. In most cases, the condition fades as the child grows, but in a few even rarer cases the condition continues to deform the afflicted person's face. Also causes premature loss of the primary teeth and uneruption of the permanent teeth.
Genetics
Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown. The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. The protein plays a role in transmitting chemical signals within cells, particularly cells involved in the replacement of old bone tissue with new bone (bone remodeling) and certain immune system cells.
Mutations in the SH3BP2 gene lead to the production of an overly active version of this protein. 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 inflammation in the jaw bones and triggers the production of osteoclasts, which are cells that break down bone tissue during bone remodeling. 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.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
See also
References
- National Library of Medicine. Cherubism
WikiDoc Research Resources for Cherubism | |
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| Articles on Cherubism | Most recent articles on Cherubism • Most cited articles on Cherubism • Review articles on Cherubism • Articles on Cherubism in N Eng J Med, Lancet, BMJ |
| Media (Slides, Video, Images, MP3) on Cherubism | Powerpoint slides on Cherubism • Images of Cherubism • Photos of Cherubism • Podcasts & MP3s on Cherubism • Videos on Cherubism |
| Evidence Based Medicine Regarding Cherubism | Cochrane Collaboration on Cherubism • Bandolier on Cherubism • TRIP on Cherubism |
| Cost Effectiveness of Cherubism | Cost Effectiveness of Cherubism |
| Clinical Trials Involving Cherubism | Ongoing Trials on Cherubism at Clinical Trials.gov • Trial results on Cherubism • Clinical Trials on Cherubism at Google |
| Guidelines / Policies / Government Resources (FDA/CDC) Regarding Cherubism | US National Guidelines Clearinghouse on Cherubism • NICE Guidance on Cherubism • NHS PRODIGY Guidance • FDA on Cherubism • CDC on Cherubism |
| Textbook Information on Cherubism | Books and Textbook Information on Cherubism |
| Pharmacology Resources on Cherubism | Dosing of Cherubism • Drug interactions with Cherubism • Side effects of Cherubism • Allergic reactions to Cherubism • Overdose information on Cherubism • Carcinogenicity information on Cherubism • Cherubism in pregnancy • Pharmacokinetics of Cherubism • |
| Genetics, Pharmacogenomics, and Proteinomics of Cherubism | Genetics of Cherubism • Pharmacogenomics of Cherubism • Proteomics of Cherubism |
| Newstories on Cherubism | Cherubism in the news • Be alerted to news on Cherubism • News trends on Cherubism |
| Commentary on Cherubism | Blogs on Cherubism |
| Patient Resources on Cherubism | Patient resources on Cherubism • Discussion groups on Cherubism • Patient Handouts on Cherubism • Directions to Hospitals Treating Cherubism • Risk calculators and risk factors for Cherubism |
| Healthcare Provider Resources on Cherubism | Symptoms of Cherubism • Causes & Risk Factors for Cherubism • Diagnostic studies for Cherubism • Treatment of Cherubism |
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| International Resources on Cherubism | Cherubism en Espanol • Cherubism en Francais |
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
