POSTER PRESENTATION Open Access

PReS-FINAL-2263: Progressive pseudorheumatoiddysplasia in differential diagnosis of juvenileidiopathic arthritisE Vrtíková1*, E Košková1, M Genčík2, J Sedlákova1

From 20th Pediatric Rheumatology European Society (PReS) CongressLjubljana, Slovenia. 25-29 September 2013

IntroductionIn the differential diagnostics of juvenile idiopathicarthritis (JIA), rare genetic diseases that often mimicchronic polyarthritis, should be considered. In our casereport we describe such rare disease - progressive pseu-dorheumatoid dysplasia (PPD).

ObjectivesA 13 year old female patient started to complain aboutlower extremity pain at the age of 3 years, refuted towalk, and the walking stereotype has been disrupted.She has been seen at our rheumatology practice at theage of 7 year. Our findings included a baby thickeningand rigidity of the proximal interphalangeal joints of thehands, a substantial deficit in hip function, valgus defor-mities of knees and ankles with painless movement lim-itation, restriction of the cervical spine function andsigns of thoracic kyphosis. Arthrology and X-ray handsexamination suggested a polyarticular form of JIA.Blood examination did not show increased inflammatoryactivity and the platyspondyly shown on the spineX-Ray was also discrepant. Given the atypical clinicalrepresentation, we consider Mucopolysaccharidosiswhich has been excluded by repeated targeted examina-tion. Given the progressive functional deficit, develop-ment of erosive changes in the hip joint shown by X-rayand ultrasound examinations, immunosuppressive ther-apy has been administered for 6 months. After 7 yearsof disease duration a small effusion in the knee jointsappeared. Cytological examination, however, showednon-inflammatory features of the synovial fluid. Basedon these findings and the overall course of the disease,

we revised our diagnosis to progressive pseudorheuma-toid dysplasia (PPD). Molecular genetic testing showedthe splicing mutation c.589 of the WISP3 gene, which isassociated with this autosomal recessive skeletal disease.Subsequently we found consanguinity in parents of ourpatient. WISP3 gene plays a role in the cartilage growthand homeostasis. PPD is spondyloepiphyseal dysplasiacharacterized by progressive arthropathy, recessiveinheritance mode and a prevalence of one in 1 million.First symptoms usually appear before the age of 8 years.Problems typically start as muscle weakness and symme-trical swelling of PIP joints of hands. Thereafter duringthe course of disease a limitation of joint mobility,articular deformities and pain, accentuation of lumbarlordosis and thoracic kyphosis and/or scoliosis each gra-dually occur. Affected individuals have normal facialappearance and their intellectual capacity is not affected.PPD diagnosis is based on clinical and X-ray findings.Immunosuppressive therapy is not effective but rehabili-tation has an irreplaceable role. The disease does notaffect life expectancy; its progressive character oftenrequires joint replacement in the early adult. The disor-der may be mistakenly diagnosed as JIA; however X-rayfindings (platyspondyly, generalized epiphyseal dysplasia)and absence of inflammatory joint involvement are nottypical for JIA.

MethodsCase report.

ResultsAtypical clinical presentation with laboratory and ima-ging results should indicate revision of the originaldiagnosis.

1National Institute of Rheumatic Diseases, Piešťany, SlovakiaFull list of author information is available at the end of the article

Vrtíková et al. Pediatric Rheumatology 2013, 11(Suppl 2):P253http://www.ped-rheum.com/content/11/S2/P253

© 2013 Vrtíková et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative CommonsAttribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction inany medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

ConclusionIn rheumatology practice the delay in correct diagnosisand unfortunate indication of long-term not indicatedimmunosuppressive treatment may not always beavoided.

Disclosure of interestNone declared.

Authors’ details1National Institute of Rheumatic Diseases, Piešťany, Slovakia. 2Medgene s.r.o.,Bratislava, Slovakia.

Published: 5 December 2013

doi:10.1186/1546-0096-11-S2-P253Cite this article as: Vrtíková et al.: PReS-FINAL-2263: Progressivepseudorheumatoid dysplasia in differential diagnosis of juvenileidiopathic arthritis. Pediatric Rheumatology 2013 11(Suppl 2):P253.

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Vrtíková et al. Pediatric Rheumatology 2013, 11(Suppl 2):P253http://www.ped-rheum.com/content/11/S2/P253

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