Rare Gastroenterology News

Disease Profile

Pigmented villonodular synovitis

Prevalence
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

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Childhood

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 tissue lining the joints and tendons in the body (synovium) grows abnormally. It is characterized by a noncancerous mass or tumor. There are two types of PVNS: the local or nodular form (where the tumor involves the tendons that support the joint, or in one area of the joint) and the diffuse form (where the entire lining of the joint is involved). Symptoms might include: pain, limitation of movement, and locking of the joint. In some cases, the normal joint structure can be destroyed. The knee is most commonly affected by this condition, though it can occur in other joints such as the hip, shoulder, elbow, ankle, wrist, and rarely the jaw. The average age of diagnosis for this condition is 35 years. The cause of PVNS is unknown. Treatment involves surgery to remove the tumor and damaged portions of the synovium.[1][2][3]

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 osteoporosis
0040161
Polyarticular arthropathy
0005195
Synovial hypertrophy
0005186

Cause

The exact cause of pigmented villonodular synovitis (PVNS) is unknown. Some doctors believe that it is similar to arthritis, arising from swelling (inflammation) of the joint tissue. Others believe it develops like a tumor, caused by cells growing and multiplying more quickly than usual.[4] The association between a history of trauma and the development of PVNS is unclear. One study found that 56% of individuals with PVNS had a history of previous trauma, while other studies have found a much lower incidence.[3] 

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

Pigmented villonodular synovitis (PVNS) is diagnosed via physician examination, imaging studies, and sometimes surgical procedures. Imaging studies commonly used include: X-ray, MRI, and CT scan. MRI findings are diagnostic in more than 95% of patients. CT scan findings are additionally often diagnostic, though they might not show the extent of the disease.[1]

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 biopsy, in which a small operation is completed to obtain a tissue sample.[2]

Treatment

Pigmented villonodular synovitis is first treated with surgery to remove as much of the abnormal tissue growth as possible. The type of surgery depends on the location and extent of the disease within the joint. Radiation therapy is sometimes used to treat this condition if surgery is not an option, or if the condition returns (recurs) after an initial surgery.[1][4]

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.

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

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

  1. John R McGrath. Pigmented Villonodular Synovitis Imaging. Medscape. October 21, 2015; https://emedicine.medscape.com/article/394649-overview.
  2. American Academy of Orthopaedic Surgeons (AAOS). Pigmented Villonodular Synovitis. OrthoInfo. November 2014; https://orthoinfo.aaos.org/topic.cfm?topic=a00506.
  3. 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/.
  4. 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.
  5. 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.
  6. 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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