Progressive pseudorheumatoid skeletal dysplasia presenting with proportionate short stature and positive WISP3 mutation: A case report.

Muhammad Fasih Mansuri; Muhammad Ashfaq Sindhu; Marya Hameed; Muhammad Nasir Javed; Kanwal Laique; Syed Shariq Ullah

Progressive pseudorheumatoid skeletal dysplasia presenting with proportionate short stature and positive WISP3 mutation: A case report.

Muhammad Fasih Mansuri, Muhammad Ashfaq Sindhu, Marya Hameed, Muhammad Nasir Javed, Kanwal Laique, Syed Shariq Ullah

Abstract

Progressive pseudorheumatoid dysplasia (PPD) is a genetic non-inflammatory arthropathy, known to transmit in a recessive pattern is caused by a mutation in the WISP3 (Wnt1-inducible signal pathway) gene. It is a highly debilitating multi-joint disease that presents with a disproportionate short stature, usually affecting children between 3 to 8 years of age. PPD is diagnosed clinically along with imaging but confirmed with the help of precise genetic analysis. It is a rare disease with an approximate incidence of 1/1,000,000 in the UK but a bit higher in the Middle East and Asian region. The case reports regarding PPD in Pakistan are very scarce. It is usually very rare for PPD to present with a proportionate short stature which we have reported. It is the first case from Pakistan to be confirmed through genetic analysis and will further pave the way for clinicians to use this tool for confirming the diagnosis.

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References

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 affected individuals. Am J Med Genet C Semin Med Genet. 2012;160C (3):217-29.

Torreggiani S, Torcoletti M, Campos-Xavier B, Baldo F, Agostoni C, Superti-Furga A, et al. Progressive pseudorheumatoid dysplasia: a rare childhood disease. Rheumatol Int. 2019;39(3):441-52.

Wickrematilake G. Progressive Pseudorheumatoid Dysplasia or JIA? Case Rep Rheumatol. 2017;2017: 1609247.

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 Online J. 2018;16(1):55.

Sun J, Xia W, He S, Zhao Z, Nie M, Li M, et al. Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia. PLoS One. 2012;7(6): e38643.

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).

Sen M, Cheng YH, Goldring MB, Lotz MK, Carson DA. WISP3-dependent regulation of type II collagen and aggrecan production in chondrocytes. Arthritis Rheum. 2004;50(2):488-97.

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):149.

Rai E, Mahajan A, Kumar P, Angural A, Dhar MK, Razdan S, et al. Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India. Sci Rep. 2016; 6:27684.

Hartmann M, Merker J, Haefner R, Haas JP, Schwirtz A. Biomechanics of walking in adolescents with progressive pseudorheumatoid arthropathy of childhood leads to physical activity recommendations as therapeutic focus. Clin Biomech (Bristol, Avon). 2016; 31:93-9.

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