Progressive pseudorheumatoid arthropathy of childhood – do we know this disease?ująca rzekomoreumatoidalna artropatia dziecięca
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Submission date: 2013-12-06
Final revision date: 2014-03-12
Acceptance date: 2014-05-27
Online publication date: 2014-07-31
Publication date: 2014-06-30
Reumatologia 2014;52(3):189–192
Progressive pseudorheumatoid arthropathy of childhood (PPAC) is an inherited autosomal recessive skeletal dysplasia. The disease is associated with mutations of the gene WISP 3. Primarily it is a disorder of articular cartilage, followed by degeneration and loss of articular cartilage. The initial clinical symptoms, which usually appear between 3 and 8 years of age, are similar to the symptoms of juvenile idiopathic arthritis. The main features are progressive, non inflammatory arthropathy of minor and major joints and changes in the spine. Gradually there occurs enlargement of joints, then progressive restriction of joint and spine mobility. Radiographic imaging, the most important for diagnosis, revealed widened epiphyses and metaphyses of bones, generalized osteoporosis of bones, and narrowing of articular spaces. In the spine platyspondyly and narrow intervertebral disc spaces are typical. In differential diagnosis it is essential to exclude juvenile idiopathic arthritis, but also other connective tissue diseases, spondyloarthropathies, mucopolysaccharidoses, and inherited bone dysplasias.
Springer J, Albert C, Schelling E, et al. Progressive pseudorheumatoid arthritis of childhood (PPAC) a hereditary disorder simulating rheumatoid arthritis. Eur J Pediatr 1983; 140: 34-40. .
Wynne-Davies R, Hall C, Ansell BM. Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A “new” disorder of autosomal recessive inheritance. J Bone Joint Surg Br 1982; 64: 442-445. .
Jun Y, Hui-Wen Z, Wen-Juan Q, et al. Patients with progressive pseudorheumatoid dysplasia: from clinical diagnosis to molecular studies. Mol Med Rep 2012; 5: 190-195. .
Online Mendelian Inheritance in Man OMIM, Johns Hopkins University Baltimore, MD. MIM Number 208230: 8/27/1099: World Wide Web URL.http//www.ncbi.nlm.nih.gov/omim/ .
Segarra NG, Mittaz L, Campos-Xavier AB, et al. Diagnostic Challenge of Progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features and WISP 3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet 2012; 160C: 217-229. .
Cogulu P, Ozkinay F, Ozkinay C, et al. Progressive pseudorheumatoid arthropathy of childhood. Indian J Pediatr 1999; 66: 455-460. .
Cefle A, Cefle K, Tunacl M, et. al. A case of progressive pseudorheumatoid arthropathy of childhood with the diagnosis delayed to the fifth decade. Int J Clin Pract 2006; 60: 1306-1309.
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