The following information may help to address your question:
Has any link between cherubism and Noonan syndrome been established?
has been reported in cases of Noonan syndrome
This has been referred to as Noonan-like/multiple giant-cell lesion syndrome
due to overlapping signs and symptoms of cherubism and Noonan syndrome in some individuals. Some experts believe that when an individual has Noonan syndrome and multiple giant-cell lesions
(MGCL) in the jaw, the lesions are recognized as part of the Noonan syndrome spectrum, rather than the individual having two distinct conditions simultaneously. Individuals with Noonan syndrome and MGCL have been found to have mutations
in the PTPN11
genes, which are two of the genes known to cause Noonan syndrome.
Some experts have proposed discarding the term "Noonan-like/multiple giant-cell lesion syndrome", and describing affected individuals as having Noonan syndrome with MGCL; they also propose using the term "cherubism" only when multiple giant cell lesions occur without any other features or genetic evidence of Noonan syndrome, with or without mutations of the SH3BP2
gene (the gene known to cause cherubism).
It is currently unclear whether Noonan-like/multiple giant-cell lesion syndrome is a distinct entity or whether it is a variant of cherubism or Noonan syndrome.
The MGCL common in individuals with cherubism have also occurred in other genetic disorders, including Ramon syndrome, which also involves short stature, intellectual disability, and overgrowth of the gums (gingival fibrosis); fragile X syndrome
(a condition primarily affecting males that causes learning disabilities and cognitive impairment); neurofibromatosis type 1
; and cardiofaciocutaneous syndrome
The occurrence of features of cherubism with these various genetic disorders have supported the argument that Noonan-like/multiple giant-cell lesion syndrome is not a separate condition.
Last updated: 1/13/2011
Have there been reported cases, or information about, giant-cell lesions of the jaw causing pain?
There have been reported cases of giant-cell lesions of the jaw causing pain in some individuals. One study that analyzed 26 patients with central giant-cell granuloma (CGCG) noted that 16 of the patients reported no symptoms, while others reported pain, massive swelling and other features. The authors note that these patients were younger and the lesions were larger than in the group reporting no symptoms.
Another study reported that painless swelling was the most common clinical feature in the individuals they studied.
It should be noted that these reports describe individuals with giant-cell lesions of the jaw, but not necessarily individuals with multiple lesions, or with cherubism, Noonan syndrome, or Noonan-like/multiple giant-cell lesion syndrome. Most descriptions of the clinical features of cherubism state that the condition is painless.
Last updated: 1/13/2011
Where can I find relevant research articles or information about research studies on the features of cherubism, Noonan syndrome, and Noonan-like/multiple giant-cell lesion syndrome?
You can find relevant articles on cherubism, Noonan syndrome and Noonan-like/multiple giant-cell lesion syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site. Using any of the three condition terms as your search term (or in combination such as "cherubism AND Noonan syndrome") should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search: http://www.ncbi.nlm.nih.gov/PubMed
The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link: http://nnlm.gov/members/
. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov
to provide patients, family members, and members of the public with current information on clinical research studies. To find trials, click on the link above and use "cherubism" or "Noonan syndrome" or "Noonan-like/multiple giant-cell lesion syndrome" as your search term. After you click on a study, review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. Check this site often for regular updates.
You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if you are eligible for any clinical trials. If you are located outside the United States, and would like to be contacted via telephone, you will need to provide your telephone number in full, including area code and international dialing prefix.
Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Web site: http://clinicalcenter.nih.gov/
If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page. http://clinicaltrials.gov/ct2/info/understand
A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine: http://www.nlm.nih.gov/medlineplus/tutorials/clinicaltrials/htm/lesson.htm
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases Research (ORDR), part of the National Institutes of Health. http://rarediseases.info.nih.gov/Resources.aspx?PageID=8
GeneTests lists the names of laboratories that are performing research testing for cherubism and Noonan syndrome. To view the contact information for the laboratories conducting research testing for cherubism, click here
. To view the contact information for the laboratories conducting research testing for Noonan syndrome, click here
. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 5/24/2011
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