Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report

Abstract Background Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene. Joint cartilage is the primary site of involvement, leading to arthral...

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Autores principales:	Anjumanara Anver Omar, Salman Ahmed, John Chris Rodrigues, Allan Kayiza, Lawrence Owino
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Progressive pseudorheumatoid dysplasia WISP3 gene Juvenile idiopathic arthritis Bone deformity Medicine R
Acceso en línea:	https://doaj.org/article/cbbace00d18e40c59e7f2480bebc3df5
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spelling	oai:doaj.org-article:cbbace00d18e40c59e7f2480bebc3df52021-11-14T12:37:54ZProgressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report10.1186/s13256-021-03082-z1752-1947https://doaj.org/article/cbbace00d18e40c59e7f2480bebc3df52021-11-01T00:00:00Zhttps://doi.org/10.1186/s13256-021-03082-zhttps://doaj.org/toc/1752-1947Abstract Background Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene. Joint cartilage is the primary site of involvement, leading to arthralgia, joint stiffness, contractures, enlargement of the epiphyses and metaphysis of the hand joints, spinal abnormalities, short stature, early osteoarthritis, and osteoporosis. Juvenile idiopathic arthritis is the most common chronic rheumatic disease in childhood and has unknown etiology. Clinical features of progressive pseudorheumatoid dysplasia resemble those of juvenile idiopathic arthritis. Patients with progressive pseudorheumatoid dysplasia are usually misdiagnosed as having juvenile idiopathic arthritis. Case presentation A 13-year-old Yemeni female presented to the rheumatology clinic with a history of joint pains, bone pains, and bone deformity for 7 years. Weight and height were below the third percentiles. There was no tender swelling of metacarpophalangeal and interphalangeal joints, and she presented with scoliosis. Radiographs of the hands revealed the widening of the epiphyses. Progressive pseudorheumatoid dysplasia was suspected, and genetic testing for WNT1-inducible signaling pathway protein 1, 2, and 3 was requested with these findings. A homozygous, likely pathogenic variant was identified in the WNT1-inducible signaling pathway protein 3 gene, which confirmed our diagnosis. Conclusion Progressive pseudorheumatoid dysplasia is a rare form of spondyloepimetaphyseal dysplasia and is clinically misdiagnosed as juvenile idiopathic arthritis. It is crucial to consider progressive pseudorheumatoid dysplasia, especially in patients with standard inflammatory markers who are being followed up for juvenile idiopathic arthritis and not improving with antirheumatic intervention.Anjumanara Anver OmarSalman AhmedJohn Chris RodriguesAllan KayizaLawrence OwinoBMCarticleProgressive pseudorheumatoid dysplasiaWISP3 geneJuvenile idiopathic arthritisBone deformityMedicineRENJournal of Medical Case Reports, Vol 15, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Progressive pseudorheumatoid dysplasia WISP3 gene Juvenile idiopathic arthritis Bone deformity Medicine R
spellingShingle	Progressive pseudorheumatoid dysplasia WISP3 gene Juvenile idiopathic arthritis Bone deformity Medicine R Anjumanara Anver Omar Salman Ahmed John Chris Rodrigues Allan Kayiza Lawrence Owino Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report
description	Abstract Background Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene. Joint cartilage is the primary site of involvement, leading to arthralgia, joint stiffness, contractures, enlargement of the epiphyses and metaphysis of the hand joints, spinal abnormalities, short stature, early osteoarthritis, and osteoporosis. Juvenile idiopathic arthritis is the most common chronic rheumatic disease in childhood and has unknown etiology. Clinical features of progressive pseudorheumatoid dysplasia resemble those of juvenile idiopathic arthritis. Patients with progressive pseudorheumatoid dysplasia are usually misdiagnosed as having juvenile idiopathic arthritis. Case presentation A 13-year-old Yemeni female presented to the rheumatology clinic with a history of joint pains, bone pains, and bone deformity for 7 years. Weight and height were below the third percentiles. There was no tender swelling of metacarpophalangeal and interphalangeal joints, and she presented with scoliosis. Radiographs of the hands revealed the widening of the epiphyses. Progressive pseudorheumatoid dysplasia was suspected, and genetic testing for WNT1-inducible signaling pathway protein 1, 2, and 3 was requested with these findings. A homozygous, likely pathogenic variant was identified in the WNT1-inducible signaling pathway protein 3 gene, which confirmed our diagnosis. Conclusion Progressive pseudorheumatoid dysplasia is a rare form of spondyloepimetaphyseal dysplasia and is clinically misdiagnosed as juvenile idiopathic arthritis. It is crucial to consider progressive pseudorheumatoid dysplasia, especially in patients with standard inflammatory markers who are being followed up for juvenile idiopathic arthritis and not improving with antirheumatic intervention.
format	article
author	Anjumanara Anver Omar Salman Ahmed John Chris Rodrigues Allan Kayiza Lawrence Owino
author_facet	Anjumanara Anver Omar Salman Ahmed John Chris Rodrigues Allan Kayiza Lawrence Owino
author_sort	Anjumanara Anver Omar
title	Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report
title_short	Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report
title_full	Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report
title_fullStr	Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report
title_full_unstemmed	Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report
title_sort	progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report
publisher	BMC
publishDate	2021
url	https://doaj.org/article/cbbace00d18e40c59e7f2480bebc3df5
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Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report

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