Pigmented villonodular synovitis

Alternate names

Localized pigmented villonodular synovitis; Diffuse pigmented villonodular synovitis; Tenosynovial giant cell tumors; Diffuse-type GCT; Diffuse-type giant cell tumor; Tenosynovial giant cell tumor; TGCT; TSGCT

Definition

Pigmented villonodular synovitis (PVNS) is a disease in which the tissue lining the joints and tendons in the body (synovium) grows abnormally.

Types

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).

Epidemiology

• Due to its slow onset, the median time of definitive diagnosis from the onset of symptoms to definitive diagnosis has been shown to be 18 months.[1].

• There is conflicting data regarding the gender distribution of pigmented villonodular synovitis.
• Some studies suggest that male and female genders are affected at equal rates, while others suggest females are slightly more predisposed, but only in the context of localized disease. Pigmented villonodular synovitis has been consistently shown to have a lower incidence in pediatric populations.
• As a result, it gets more frequently misdiagnosed in children.
• Pigmented villonodular synovitis (PVNS) is considered rare.
• Estimates of prevalence may vary depending on the type of PVNS (localized or diffuse).
• According to a recently published study based on registry data in Denmark, the prevalence in 2012 was 44 per 100,000 people for localized PVNS, and 11 per 100,000 people for diffuse PVNS.
• This means that PVNS may occur in about 5-6 people out of 10,000 people.
• We are not aware of recent prevalence estimates of PVNS in the United States.

Cause

• Pigmented villonodular synovitis has been shown to have neoplastic components.[2].

• Translocations of chromosome 1p13 are present in the majority of PVNS cases with the endpoint effect of overexpressing colony-stimulating factor 1 (CSF1).
• As CSF-1 becomes overexpressed, clusters of aberrant cells form to create focal areas of soft tissue hyperplasia in the synovial cells lining joints.

Onset

The average age of diagnosis for this condition is 35 years.

Signs and symptoms

• 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.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Arthralgia(Joint pain)

30%-79% of people have these symptoms

• Abnormality of the knee
• Joint stiffness(Stiff joint)
• Joint swelling
• Osteolysis(Breakdown of bone)

5%-29% of people have these symptoms

• Abnormal shoulder morphology(Abnormality of the shoulder)
• Abnormal temporal bone morphology
• Abnormality of the ankles
• Abnormality of the auditory canal
• Abnormality of the elbow(Abnormality of the elbows)
• Abnormality of the hip joint
• Abnormality of the tympanic membrane(Abnormality of the eardrum)
• Abnormality of the wrist(Abnormalities of the wrists)
• Conductive hearing impairment(Conductive deafness)
• Groin pain
• Lymphedema(Swelling caused by excess lymph fluid under skin)
• Multiple lentigines

1%-4% of people have these symptoms

• Chondrocalcinosis(Calcium deposits in joints)
• Localized osteoporosis
• Polyarticular arthropathy
• Synovial hypertrophy

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.
• 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.

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.

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)was approved for the treatment of adult patients with symptomatic tenosynovial giant cell tumor (TGCT) associated with severe morbidity or functional limitations and not amenable to improvement with surgery.

NIH genetic and rare disease info

• NIH info on Pigmented villonodular synovitis

Pigmented villonodular synovitis is a rare disease.

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Pigmented villonodular synovitis for any updates.

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