A RARE SKELETAL DYSPLASIA-CLOSE MIMICKER OF JUVENILE IDIOPATHIC ARTHRITIS-PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
Keywords:Progressive pseudorheumatoid dysplasia, spondyloepiphyseal dysplasia tarda, Juvenile Idiopathic Arthritis
AbstractProgressive pseudorheumatoid dysplasia or spondyloepiphyseal dysplasia tarda is caused by a mutation in Wnt1 inducible signalling pathway protein 3 (WISP3) and passes in an autosomal recessive manner. Prevalence underestimated as one per million and most of the cases remain undiagnosed or treated as Juvenile Idiopathic Arthritis (JIA). Differentiation between JIA and PPRD is really challenging however, this case is genetically confirmed from our country. 7-year-old, short stature boy, with multiple joint swellings of hands and feet, initially suspected to have JIA and had been worked up and took treatment for that for the past 2 years. He had progressive stiffness of small joints. Baseline biochemistry, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor and ANA, were within normal limits. He was moderately growth hormone deficient. Thyroid function tests and insulin-like growth factor 1 (IGF-1) were within reference ranges. Skeletal survey showed typical findings of pseudorheumatoid skeletal dysplasia. Physical therapy and genetic counselling were done.
Wickrematilake G. Progressive pseudorheumatoid dysplasia or JIA? Case Rep Rheumatol 2017;2017:1609247.
Dalal A, Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, et al. Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. Am J Med Genet A 2012;158(11):2820–8.
Pode-Shakked B, Vivante A, Barel O, Padeh S, Marek-Yagel D, Veber A, et al. Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature. BMC Med Genet 2019;20(1):53.
Maatallah K, Boussaa H, Lassoued Ferjani H, Kaffel D, Hamdi W. Progressive pseudorheumatoid dysplasia: A rare entity mimicking juvenile idiopathic arthritis. Clin Case Rep 2021;9(8):e04670.
Yin H, Tang G, Lu L. The genetics of progressive pseudorheumatoid dysplasia (PPRD). QJM 2022;2022:hcac17.
Aoyama E, Hattori T, Hoshijima M, Araki D, Nishida T, Kubota S, et al. N-terminal domains of CCN family 2/connective tissue growth factor bind to aggrecan. Biochem J 2009;420(3):413–20.
Agarwal S, Pethe A, Nayak A. Progressive pseudorheumatoid dysplasia: A mimicker of juvenile idiopathic arthritis. Indian J Rheumatol 2019;14(1):83.
Sailani MR, Chappell J, Jingga I, Narasimha A, Zia A, Lynch JL, et al. WISP3 mutation associated with pseudorheumatoid dysplasia. Cold Spring harb Mol Case Stud 2018;4(1):a001990.
Liu Z, Chen X. Progressive pseudorheumatoid dysplasia: a case series report. Transl Pediatr 2021;10(7):1932.
Chen W, Mo S, Luo G, Wang Y, Deng X, Zhu J, et al. Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3. Pediatr Rheumatol 2018;16(1):55.
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.