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Disease Profile
Pigmented villonodular synovitis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
Childhood
ICD-10
M12.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Localized pigmented villonodular synovitis; Diffuse pigmented villonodular synovitis; Tenosynovial giant cell tumors;
Categories
Musculoskeletal Diseases
Summary
Pigmented villonodular synovitis (PVNS) is a disease in which the
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Arthralgia |
Joint pain
|
0002829 |
30%-79% of people have these symptoms | ||
Abnormality of the knee | 0002815 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Joint swelling | 0001386 | |
Osteolysis |
Breakdown of bone
|
0002797 |
5%-29% of people have these symptoms | ||
Abnormal shoulder morphology |
Abnormality of the shoulder
|
0003043 |
Abnormal temporal bone morphology | 0009911 | |
Abnormality of the ankles | 0003028 | |
Abnormality of the auditory canal | 0000372 | |
Abnormality of the elbow |
Abnormality of the elbows
|
0009811 |
Abnormality of the hip joint | 0001384 | |
Abnormality of the tympanic membrane |
Abnormality of the eardrum
|
0040090 |
Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Groin pain | 0031520 | |
Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
Multiple lentigines | 0001003 | |
1%-4% of people have these symptoms | ||
Chondrocalcinosis |
Calcium deposits in joints
|
0000934 |
Localized |
0040161 | |
Polyarticular arthropathy | 0005195 | |
Synovial hypertrophy | 0005186 |
Cause
There have been studies suggesting that PVNS could be caused by specific genetic changes in the cells lining the joint. More studies are needed to research this association.[5]
Diagnosis
Other methods that might be utilized in the diagnostic process include joint aspiration, in which a needle is used to remove fluid from the joint and a
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Pexidartinib(Brand name: Turalio) Manufactured by Daiichi Sankyo, Inc
FDA-approved indication: August 2019, pexidartinib (Turalio) was approved for the treatment of adult patients with symptomatic tenosynovial giantcell tumor (TGCT) associated with severe morbidity or functional limitations and not amenable to improvement with surgery.
National Library of Medicine Drug Information Portal
Medline Plus Health Information
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The American Academy of Family Physicians provides a basic overview of Pigmented villonodular synovitis.
- The American Academy of Orthopaedic Surgeons offers information on Pigmented villonodular synovitis
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pigmented villonodular synovitis. Click on the link to view a sample search on this topic.
References
- John R McGrath. Pigmented Villonodular Synovitis Imaging. Medscape. October 21, 2015; https://emedicine.medscape.com/article/394649-overview.
- American Academy of Orthopaedic Surgeons (AAOS). Pigmented Villonodular Synovitis. OrthoInfo. November 2014; https://orthoinfo.aaos.org/topic.cfm?topic=a00506.
- Guo-ping Xie Nan Jiang, Chang-xiang Liang, Jian-chun Zeng, Zhi-yuan Chen, Qian Xu, Rui-zhen Qi, Yi-rong Chen, Bin Yu. Pigmented Villonodular Synovitis: A Retrospective Multicenter Study of 237 Cases. PLoS One. March 23, 2015; 10(3):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370558/.
- Mendenhall WM, Mendenhall CM, Reith JD, Scarborough MT, Gibbs CP, Mendenhall NP. Pigmented Villonodular Synovitis. American Journal of Clinical Oncology. 2006; 29:548-550. https://www.ncbi.nlm.nih.gov/pubmed/17148989.
- Ravi V, Wang WL, Lewis VO. Treatment of tenosynovial giant cell tumor and pigmented villonodular synovitis. Current Opinion in Oncology. 2011; 23:361-366. https://www.ncbi.nlm.nih.gov/pubmed/21577109. Accessed 11/22/2011.
- Ehrenstein V, Andersen SL, Qazi I, Sankar N, Pedersen AB, Sikorski R, Acquavella JF. Tenosynovial Giant Cell Tumor: Incidence, Prevalence, Patient Characteristics, and Recurrence. A Registry-based Cohort Study in Denmark. J Rheumatol. October, 2017; 44(10):1476-1483. https://www.ncbi.nlm.nih.gov/pubmed/28765257.
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