alexa Pacydermoperiostosis Associated With Pigmented Villonodular Synovitis | OMICS International
ISSN: 2572-4916
Journal of Bone Research
Make the best use of Scientific Research and information from our 700+ peer reviewed, Open Access Journals that operates with the help of 50,000+ Editorial Board Members and esteemed reviewers and 1000+ Scientific associations in Medical, Clinical, Pharmaceutical, Engineering, Technology and Management Fields.
Meet Inspiring Speakers and Experts at our 3000+ Global Conferenceseries Events with over 600+ Conferences, 1200+ Symposiums and 1200+ Workshops on
Medical, Pharma, Engineering, Science, Technology and Business

Pacydermoperiostosis Associated With Pigmented Villonodular Synovitis

Vlad Predescu, Violeta Claudia Bojinca*, Bogdan Deleanu and Mihai Bojinca

Department of Internal Medicine and Rheumatology, Hospital “Sfanta Maria”, University of Medicine and Pharmacy “Carol Davila”, Romania

Corresponding Author:
Violeta Claudia Bojinca
Department of Internal Medicine and Rheumatology
Hospital “Sfanta Maria”, Ion Mihalache Blv. 37-39
University of Medicine and Pharmacy “Carol Davila”, Romania
Tel: +40723924823
Fax: +40212224064
E-mail: [email protected]

Received Date: July 17, 2017; Accepted Date: August 05, 2017; Published Date: August 12, 2017

Citation: Predescu V, Bojinca VC, Deleanu B, Bojinca M (2017) Pacydermoperiostosis Associated With Pigmented Villonodular Synovitis. J Bone Res 5:179. doi:10.4172/2572-4916.1000179

Copyright: © 2017 Predescu V, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Visit for more related articles at Journal of Bone Research


Pachydermoperiostosis is a rare genetic disorder with autosomal dominant or autosomal recessive transmission and variable expression known also as primary hypertrophic osteoarthropathy and Touraine- Solente-Gole syndrome [1-3]. The proposed mechanism of the disease is the increase of seric levels of Prostaglandin E2 (PGE2) produced by inactivating mutations of Hydroxy-Prostaglandin Dehydrogenase (HGPD) enzyme (responsible for PGE2 degradation) or of SLCO2A1 (a PGE2 transporter) [1,2,4]. Increased seric levels of PGE2 are inducing various metabolic modifications of skin, bones, joints and blood vessels. Overproduction of Vascular Endothelial Growth Factor (VEGF) and / or Platelet -Derived Growth Factor (PDGF) induced by the increased levels of PGE2 could play also a significant pathogenic role [1,4]. Alcohol could also contribute to the apparition of the disease [1,4]. The clinical manifestations are pachyderma thickened facial skin with facial coarsening, acropachia - digital clubbing of hands and feet, periostosis, excessive sweating, arthritis, symmetrical enlargement of forearms and legs [1-5]. The male to female ratio is 7: 1 and the disease is usually begins in childhood or adolescence and progresses slowly for 5 - 20 years before stabilizing [1]. The clinical presentation could be complete with skin and musculoskeletal manifestations or incomplete. The laboratory tests are usually normal except for the modifications induced by concomitant diseases. Radiographic examination shows sub periosteal bone formation, cortical thickening, enlargement of phalanges, metacarpal and sometimes of the ulna and radius [1,4].

The diagnostic criteria for pachydermoperiostosis are:

Major criteria - pachyderma, periostosis and digital clubbing

Minor criteria - hyperhydrosis, arthralgia, arthritis, symmetrical (columnar) enlargement of forearms and legs, edema [1,6]. The differential diagnosis should include acromegaly (increased IGF and GH), pachydermoperiostosis secondary to malignanacies, secondary hypertrophic osteoarthropathy (development in adulthood, associated with severe chronic pulmonary diseases, pulmonary malignancies, cyanotic heart diseases) and inflammatory rheumatic diseases [1-5]. The treatment consists usually of long term use of non-steroidal antiinflammatory drugs, joint fluid aspiration, intraarticular glucocorticoids. There are some reports of use of Colchicine, Sulfasalazine, Methotrexate, and TNF alpha blockers. Intravenous pamidronate or zoledronate could improve musculoskeletal symptoms. Surgical interventions could be indicated for skin problems and also for joint involvement [1-5]. Refractory synovitis is rarely reported in pachydermoperiostosis [7]. Pigmented Villonodular Synovitis (PVNS) is a rare, usually benign, villous or nodular synovial proliferation of joints, tendons and bursae [8-11]. The pigmentation is generated by the accumulation of hemosiderin in the synovial proliferation [10,11].

According to World Health Organization, PVNS is considered a tenosynovial giant- cell tumor and is classified as diffuse type giant cell tumor, with destructive potential and involving a joint and localized giant - cell tumor, involving tendons, bursae or joints [9-11]. The pigmented villonodular tenosynovitis (giant - cell tenosynovitis) is the most frequent manifestation of the disease [9-11]. The knee is the most frequent affected joint, followed by the hip, and then some others joints as elbow, shoulder and ankle [8-11]. The etiology is uncertain, but mutations in the Colony - Stimulating Factor 1 (CSF-1) gene with overexpression of CSF-1 have been described in some cases of PVNS [9]. Joint pain, chronic swelling and limitation of the joint mobility are the most common clinical manifestations and because of nonspecificity of signs and symptoms there is usually a delay in diagnosis [8-11]. The laboratory tests are normal. The radiographic examination is normal in the early phases but later it shows joint swelling, bone erosions and subcondral cysts [8-11]. Computed Tomography (CT) shows synovial thickening and bone erosions. The Magnetic Resonance Imaging (MRI) is particularly helpful and very specific. MRI reveals synovial thickening with low to intermediate signal on T1 - weighted images and low signal in T2 - weighted images with enlargement of low signal intensity areas in the gradient echo images (“blooming effect”) very specific for the presence of hemosiderin in the synovial tissue [9-11]. The most effective treatment is synovectomy [8-11]. Radiation therapy, external or intra articular, is also used for PVNS [8-11].

Case Report

We present a case of a 45 years old male, admitted in an orthopedic department for pain and swelling of the right knee. The patient had a synovectomy of the left knee 15 years ago for chronic resistant synovitis. In the last 3 years the patient had repeated joint fluid aspiration of the right knee. At the clinical examination the patient had typical modifications of pachydermoperiostosis with coarsened facial features and hand and feet digital clubbing (Figures 1 and 2). The right knee had important swelling with very limited flexion (30 degrees) and normal extension (Figures 3 and 4). The X-ray examination revealed periosteal bone production of the femur, tibia and patella, patellar bone resorption and osteoarthritic modifications of the knee. The MRI examination showed a hypertrophic synovial tissue with villous and nodular protrusions and a large amount of fluid (Figures 5-7).


Figure 1: Facial aspect of patient.


Figure 2: Aspect of hands and feet of the patient.


Figure 3: Swelling in right knee with limited flexion and normal extension.


Figure 4: X-ray image of Swelling in right knee with limited flexion and normal extension.


Figure 5: PDW SPAIR axial view showing synovial hypertrophy with villous and nodular protrusions and a large amount of fluid.


Figure 6: T2W TSE axial view showing synovial hypertrophy with villous and nodular protrusions and a large amount of fluid.


Figure 7: STIR longitudinal view showing synovial hypertrophy with villous and nodular protrusions and a large amount of fluid.

The orthopedic evaluation suggested an open synovectomy of the right knee. During surgical intervention, an important synovial hypertrophy involving the whole synovium was found with brown discoloration suggestive for hemosiderin deposits, with bone invasion and dystrophic modifications of the right quadriceps muscle and tendon. After surgery the patient had important improvement of pain and mobility of the knee (improved flexion from 30 degrees to 100 degrees). The pathologic examination of the removed synovial tissue (Figure 8) showed pigmented villonodular synovitis. The patient had a favorable evolution and after 1 year he has mild pain and swelling of the right knee with normal extension and improved flexion (around 120 degrees).


Figure 8: Pathologic examination of the removed synovial tissue depicts pigmented villonodular synovitis.


The patient is a middle-aged male with all the major features of pacydermoperiostosis: pachyderma, peristalsis and digital clubbing. Joint involvement, (synovitis and effusion) mainly of the lower limbs, is very frequent in patients with pachydermoperiostosis and is associated with periostosis of the long bones, secondary osteoarthritis and possible dysregulations of endothelial activation [1,5,7]. The treatment for joint involvement is non- steroidal anti-inflammatory drugs, joint fluid aspiration and local glucocorticoid injection, and some cases synovectomy [1,4,5]. Arthralgia and arthritis are frequent in pachydermoperiostosis but painful synovitis, refractory to treatment, is rarely reported [1,7]. Our patient had important swelling of the right knee, refractory to non – steroidal anti-inflammatory drugs and repeated joint fluid aspiration with local glucocorticoid injection and finally he needed right knee synovectomy (15 years after left knee synovectomy). Pachydermoperiostosis is a very rare disease and also pigmented villonodular synovitis is a rare disease, so we wanted to report an unusual association of two rare diseases. The pathogenic mechanisms of this disease, pachydermoperiostosis and pigmented villonodular synovitis, are uncertain and probably different but we can speculate that the overproduction of growth factors as VEGF and PDGF, induced by the increased levels of PGE2 in patients with pachydermoperiostosis could have a pathogenic role also in pigmented villonodular synovitis.


Select your language of interest to view the total content in your interested language
Post your comment

Share This Article

Relevant Topics

Recommended Conferences

  • International Conference on Emergency & Acute Care Medicine August 22-23, 2018 Tokyo, Japan
    August 22-23, 2018 Tokyo, Japan
  • 14th International Conference on Clinical Gastroenterology and Hepatology August 29-30, 2018 Toronto, Ontario, Canada
    August 29-30, 2018 Toronto, Canada
  • World Conference on Neurology and Neuromuscular Disorders September 13-14, 2018 Frankfurt, Germany
    September 13-14, 2018 Frankfurt, Germany
  • 9th International Conference on Clinical & Medical Case Reports September 17-18, 2018 | Amsterdam, Netherlands
    September 17-18, 2018 Amsterdam, Netherlands
  • World Congress on Fetal and Maternal Medicine October 15-17, 2018 Osaka, Japan
    October 15-17, 2018 Osaka, Japan
  • Complementary & Alternative Medicine October 17-18, 2018 Las Vegas | Nevada | USA
    October 17-18, 2018 Las Vegas, USA
  • 11th International Conference on Clinical and Medical Case Reports October 22-23, 2018 Turkey
    October 22-23, 2018 Istanbul, Turkey

Article Usage

  • Total views: 710
  • [From(publication date):
    September-2017 - Aug 20, 2018]
  • Breakdown by view type
  • HTML page views : 673
  • PDF downloads : 37

Post your comment

captcha   Reload  Can't read the image? click here to refresh

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2018-19
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

+1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A


[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals


porn sex

[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

Gaziantep Escort

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A


[email protected]

1-702-714-7001Extn: 9037


James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

mp3 indir

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals


Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T


[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

© 2008- 2018 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
Leave Your Message 24x7