Progressive pseudorheumatoid arthropathy of childhood

Abstract

Progressive pseudorheumatoid arthropathy of childhood (PPAC) described by Spranger et al is a rare autosomal recessive disorder. An 11 year-old girl was diagnosed as having PPAC at Ege University, Faculty of Medicine, Department of Paediatrics. Her complaints of painful joints, difficulty in walking and joint contractures began at the age of 3 years and she was treated for juvenile rheumatoid arthritis for 8 years. Her symptoms did not respond to nonsteroid anti-inflammatory treatment. During her last hospitalisation period, she was reinvestigated. Radiological examination showed spondyloepiphyseal dysplasia, severe acetabular irregularity and osteoporosis. All the laboratory test results for rheumatoid arthritis were negative. The clinical and radiological findings of the patient are illustrated.

WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198*

“… 3 Juvenile rheumatoid arthritis is often mistaken for PPD because of common symptoms, widening at the interphalangeal joints and radiological features. 4 In PPD, inflammatory parameters such as C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) and rheumatoid factor (RF) 5 are not elevated, and joint synovitis is absent. 6 , 7 Pathology in PPD is characterised by loss of articular cartilage, resulting in early degeneration of joints and deforming arthritis, and often requiring joint replacements in the second decade of life.…”

“… 12 Most children with PPD are missed or misdiagnosed in the early stages because of the resemblance of the early features of PPD to metabolic diseases and rheumatoid arthritis. 1 , 5 Molecular diagnosis in the early stages will avoid unwarranted surgeries or medical treatment in these patients. So far, 60 different mutations of the WISP3 gene have been described in PPD patients, mostly in Indian, Chinese and European series.…”

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

“…Progressive pseudorheumatoid dysplasia (PPRD) (MIM 208230) is an autosomal recessive inherited skeletal dysplasia characterized by progressive non‐inflammatory arthropathy affecting primarily the articular cartilage. Since its initial description by Wynne‐Davies et al [1982] and independently by Spranger et al [1983a, b] several cases or small series have been published, mostly reporting clinical and radiological features [Kaibara et al, 1983; Al‐Awadi et al, 1984; Legius et al, 1993; el‐Shanti et al, 1997; Cogulu et al, 1999; Mampaey et al, 2000]. PPRD has an estimated incidence of 1 per million in the UK [Wynne‐Davies et al, 1982] and seems to be more frequent in the Middle East and Gulf states [Teebi and Al Awadi, 1986] as well as in Turkey, where a founder effect has been suggested [Delague et al, 2005].…”

Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy Associated with Osteoporosis and Cataract: A Case was Misdiagnosed as Juvenile Idiopathic Arthritis

“…Although the most common initial symptoms of SEDT are low back pain, difficulty in walking and pain in the hips and knees, the disease rarely starts with small peripheral joint involvement. In SEDT patients the age of one set changes between 3-11 years old however the reported age at diagnoses ranges from 4-58 years old [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. The diagnosis is delayed due to the slow progression of symptoms, the rarity of the disease and JIA like joint involvement.…”