A rare case of progressive pseudorheumatoid dysplasia
DOI:
https://doi.org/10.18203/2349-3291.ijcp20223426Keywords:
Pseudorheumatoid dysplasia, Short stature, WISP3 geneAbstract
Progressive pseudorheumatoid dysplasia is a rare, autosomal recessive, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1- protein present in 3 gene. Usual presentation is arthralgia, joint stiffness, contractures with primary involvement in joint cartilage. We present a 13-year-old female child presented with history of short stature, bowing of legs and curving of spine and inability to walk normally since the past two years. The symptoms have been progressively worsening for the past one year. Progressive pseudo rheumatoid dysplasia is a rare form of spondyloepimetaphyseal dysplasia and is clinically misdiagnosed as juvenile idiopathic arthritis. Any patient presenting with musculoskeletal symptoms should be evaluated appropriately to start appropriate therapy in time.
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Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, et al. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 afected individuals. Am J Med Genet Part C. 2012;160(3):217-29.
Hu Q, Liu J, Wang Y, Wang J, Shi H, Sun Y, et al. Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report. BMC Med Genet. 2017;18(1):1-5.
Bhavani GS, Shah H, Shukla A, Dalal A, Girisha KM. Progressive pseudorheumatoid dysplasia. GeneReviews®. 2020.
Taspinar O, Kelesoglu F, Keskin Y, Uludag M. Progressive pseudorheumatoid dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis. Ethiop J Health Sci. 2016;26(4):397-400.
Wickrematilake G. Progressive pseudorheumatoid dysplasia or JIA? Case Rep Rheumatol. 2017;1-3.
Chouery E, Corbani S, Dahmen J, Zouari L, Gribaa M, Leban N, et al. Progressive pseudorheumatoid dysplasia in North and West Africa: clinical description in ten patients with mutations of WISP3. Egypt J Med Hum Genet. 2017;18(3):299-303.
Sailani MR, Chappell J, Jingga I. WISP3 mutation associated with pseudorheumatoid dysplasia. Cold Spring Harb Mol Case Stud. 2018;4(1).
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.
Chakraborty PP, Biswas SN, Patra S, Santra G. Progressive pseudorheumatoid dysplasia: a close
mimicker of juvenile idiopathic arthritis. BMJ Case Report. 2016.
Hu WW, Zhang ZL. Identification of WISP3 gene mutation in four families with progressive pseudorheumatoid dysplasia. Chinese J Osteoporosis Bone Mineral Res. 2018;11:224-32.
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