Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey

Ekinci, Rabia Miray Kışla; Balcı, Sibel; Doğan, Haldun; Ceylaner, Serdar; Varan, Celal; Erdem, Sevcan; Coban, Fatma; Bişgin, Atıl

doi:10.1159/000513111

Cited by 12 publications

(9 citation statements)

References 16 publications

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“…In this regard, coxa vara deformity was almost always present in CACP patients (95.2%) associated with femoral changes (e.g., short femoral neck, flat and irregular femoral head) in more than half of cases (64.4%) ( 2 – 4 , 7 , 8 , 13 , 16 – 18 , 21 , 22 , 24 , 25 , 27 ). Bone cysts, secondary to joint capsule herniation, are characteristic of the syndrome and occasionally reported (14.4%) ( 2 , 4 , 7 , 9 , 13 , 21 , 24 , 25 , 28 , 29 ). Osteoporosis was observed in 36.3% of cases (53), while spine abnormalities (e.g.…”

Section: Discussionmentioning

confidence: 99%

“…Conventional radiographs also revealed periarticular soft tissue swelling and osteopenia ( 15 ). Imaging findings of articular effusion and synovial hyperplasia were reported in 40.4% patients (59) at ultrasound sonography or MRI ( 2 , 4 , 7 – 9 , 12 , 13 , 17 , 19 , 20 , 24 , 28 , 29 ).…”

Section: Discussionmentioning

confidence: 99%

“…The synovial tissue histology, performed in 20 patients, revealed little or no mononuclear infiltration with typical multinucleated giant cells (CD68+) infiltration. Synovial fluid was always noninflammatory (clear, honey-colored, and low in cell count) ( 3 , 4 , 9 , 10 , 12 , 13 , 22 , 23 , 28 ).…”

Section: Discussionmentioning

confidence: 99%

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Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature

et al. 2022

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Camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome is a rare genetic disease characterized by tetrad camptodactyly, noninflammatory arthropathy, coxa vara deformity, and pericardial effusion. Arthropathy typically affects large joints and presents with joint swelling in the absence of other signs of inflammation. We described the case of a girl affected by CACP syndrome caused by a novel compound heterozygous variant in proteoglycan 4 gene (c.2831_2832insT; c.3892C > T) and associated with temporomandibular involvement. The patient received treatment with intra-articular hyaluronic acid injections, which presented rapid but transient improvements of pain and range of motion. A literature review of previously reported CACP patients has been performed. Of the patients. 69.2% (101 out of 146) were Middle Eastern, and 65.7% (96) were consanguineous. The median age of onset was 24 months (interquartile range of 12–36 months), and median age of diagnosis was 96 months (interquartile range of 48–156 months). Arthropathy was always present, mainly involving hips (95.2%), knees (92.4%), wrists (87.7%), elbows (79.5%), and ankles (57.5%). Camptodactyly and pericardial effusion were described, respectively, in 97.3% (142) and 15.1% (22) of patients. The main radiological findings were coxa vara (95.2%), femoral changes (64.4%), intraosseus cysts (14.4%), and bone erosion (5%). Of the patients, 32.9% (48) had received a previous juvenile idiopathic arthritis diagnosis. CACP syndrome can be easily misdiagnosed with juvenile idiopathic arthritis. A prolonged lack of response to immunosuppressive therapy associated with typical clinical and radiological features should prompt consideration of this rare syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature

et al. 2022

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“…This is the very first case report around the world to underline the association of camptodactyly with benign joint hypermobility syndrome. However, one case report from Southern Turkey describes three instances of camptodactyly - arthropathy - coxa vara- pericarditis syndrome (genetic mutation in the proteoglycan 4 gene), which mimicked juvenile idiopathic arthritis and were inappropriately treated [ 14 ]. Similarly, a case of Blau syndrome (mutation in nucleotide-binding oligomerization domain-containing two genes) was reported from Palestine with camptodactyly and bilateral intermediate uveitis and responded well to subcutaneous Adalimumab, biologic disease-modifying agents [ 15 ].…”

Section: Discussionmentioning

confidence: 99%

A Diagnosis of Camptodactyly With Benign Joint Hypermobility Syndrome in a Patient Presenting With Fixed Flexion Deformity of the Fingers and Striae

Nishanth¹,

Ushagowry²

2022

Cureus

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Camptodactyly is a genetic disorder that causes fixed flexion deformity of one or more fingers of single or both hands. It is very rare and the occurrence is very low amongst the children. It is linked to a handful of congenital connective tissue syndromes. It is passed onto generations with reduced expressivity. However, its association with benign joint hypermobility syndrome is rarely known. Joint hypermobility syndrome is a condition where there is extreme joint flexibility and it is related to a set of articular and extra-articular sequelae. We herein report a case of camptodactyly with benign joint hypermobility syndrome in a patient presenting with fixed flexion deformity of the fingers, joint hyperextensibility, and striae.

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“…A complete lack of lubricin, resulting from homozygous PRG4 gene mutations, is the main cause of arthropathy in camptodactyly-arthropathy-coxa vara-pericarditis syndrome, which usually resembles JIA in childhood. Misdiagnosis of patients clinically, before diagnosis with genetic analysis, may be due to the fact that some patients also demonstrate inflammatory signs of arthritis [ 12 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

Serum lubricin levels in patients with juvenile idiopathic arthritis

Ekinci¹,

Balcı²,

Coban³

et al. 2021

Reumatologia

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Objectives: Lubricin, encoded by the proteoglycan 4 (PRG4) gene, is mainly responsible for lubricating joints. However, there is expanding evidence on its involvement in inflammatory pathways. Juvenile idiopathic arthritis (JIA) is a heterogeneous group of chronic arthritides with an unknown origin in children aged below 16 years. It is characterized by chronic joint inflammation, including synovial inflammation, and may result in cartilage destruction. We aimed to determine whether serum lubricin levels are affected in JIA patients. Material and methods: This cross-sectional study included children diagnosed with JIA and 28 healthy controls. The patients were divided into two groups according to the presence of remission at the time of study. Lubricin protein analysis was performed by the enzyme-linked immunosorbent assay method. Serum samples were obtained at the study enrollment, and lubricin levels were measured once, and compared between JIA patients and healthy controls, and between JIA patients with active disease and remission. Results: The study included 52 JIA patients (28 female, 24 male) and 28 healthy controls (18 female, 10 males). The mean age at study enrollment was 11.66 ±4.41 years and 12.72 ±4.52 years in the JIA patient and control groups, respectively. Although median serum lubricin level did not differ between JIA patients (median: 0.66 ng/μl, range: 0.02-3.85 ng/μl) and healthy controls (median: 0.52 ng/μl, range: 0.06-3.84 ng/μl), it was statistically significantly higher in patients with active disease (median: 1.58 ng/μ, range: 0.08-3.85 ng/μl) than both patients in remission (median: 0.57 ng/μl, range: 0.02-3.57 ng/μl) and healthy controls. A low degree positive correlation was also found between serum lubricin levels and erythroid sedimentation rate of the JIA patients (r = 0.383 and p = 0.011). Conclusions: This is the first study investigating serum lubricin levels in JIA patients, and we found elevated serum lubricin levels in JIA patients with active disease. Further studies are needed to clarify our results.

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Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Resembling Juvenile Idiopathic Arthritis: A Single-Center Experience from Southern Turkey

Cited by 12 publications

References 16 publications

Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature

Pseudo-rheumatic manifestations of limping: Camptodactyly–arthropathy–coxa vara–pericarditis syndrome: Single case report and review of the literature

A Diagnosis of Camptodactyly With Benign Joint Hypermobility Syndrome in a Patient Presenting With Fixed Flexion Deformity of the Fingers and Striae

Serum lubricin levels in patients with juvenile idiopathic arthritis

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