{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T14:43:29Z","timestamp":1789224209004,"version":"build-2803163510"},"reference-count":18,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"27","license":[{"start":{"date-parts":[[2023,7,7]],"date-time":"2023-07-07T00:00:00Z","timestamp":1688688000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,7,7]]},"abstract":"<jats:sec>\n            <jats:title>Introduction:<\/jats:title>\n            <jats:p>Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive genetic disease caused by mutations in the <jats:italic toggle=\"yes\">Wnt1-inducible signaling pathway protein 3<\/jats:italic> gene. PPRD is considered a noninflammatory disease, and involvement of the sacroiliac joint and hip arthritis have not been reported previously.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Patient concerns:<\/jats:title>\n            <jats:p>We report a case of PPRD in an 11-year-old boy, who presented with bilateral pain and swelling in the knees, elbows, and ankles, and bilateral pain without swelling in the shoulders, wrists, knuckles, and proximal and distal interphalangeal joints for the past 5 years. He had been misdiagnosed with juvenile idiopathic arthritis for more than 6 years.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Diagnosis:<\/jats:title>\n            <jats:p>The correct PPRD diagnosis was made using whole-exome sequencing for <jats:italic toggle=\"yes\">Wnt1-inducible signaling pathway protein 3<\/jats:italic> gene mutations (c.589\u2009+\u20092T&gt;C and c.721T&gt;G; both mutations have rarely been reported) and magnetic resonance imaging examination; moreover, the latter showed inflammation of the sacroiliac joint and hip joint.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Intervention:<\/jats:title>\n            <jats:p>The patient was administered supplemental calcium, active vitamin D, and glucosamine sulfate.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Outcome:<\/jats:title>\n            <jats:p>The patient experienced alleviation of joint pain following treatment initiation; however, joint motion improvement was not obvious. Above all, the long-term use of biologic or targeted synthetic disease-modifying antirheumatic drugs in the future was avoided.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion:<\/jats:title>\n            <jats:p>The findings of the inflammatory aspects in PPRD will enrich our understanding of this rheumatological disease.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/md.0000000000034099","type":"journal-article","created":{"date-parts":[[2023,7,7]],"date-time":"2023-07-07T12:03:04Z","timestamp":1688731384000},"page":"e34099","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":5,"title":["Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review"],"prefix":"10.1097","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8469-6310","authenticated-orcid":false,"given":"Weitao","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Clinical Immunology, Xijing Hospital, The Fourth Military Medical University, Xi\u2019an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangzhi","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Xijing Hospital, The Fourth Military Medical University, Xi\u2019an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Xijing Hospital, The Fourth Military Medical University, Xi\u2019an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Xijing Hospital, The Fourth Military Medical University, Xi\u2019an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronghua","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Xijing Hospital, The Fourth Military Medical University, Xi\u2019an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junfeng","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Xijing Hospital, The Fourth Military Medical University, Xi\u2019an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nan","family":"Leng","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Xijing Hospital, The Fourth Military Medical University, Xi\u2019an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaohui","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology, Xijing Hospital, The Fourth Military Medical University, Xi\u2019an, China."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20250504","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/s00296-018-4170-6","article-title":"Progressive pseudorheumatoid dysplasia: a rare childhood disease.","volume":"39","author":"Torreggiani","year":"2019","journal-title":"Rheumatol Int"},{"key":"R2-20250504","first-page":"795","article-title":"The CCN proteins: important signaling mediators in stem cell differentiation and tumorigenesis.","volume":"25","author":"Zuo","year":"2010","journal-title":"Histol Histopathol"},{"key":"R3-20250504","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1302\/0301-620X.64B4.6807993","article-title":"Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A \u201cnew\u201d disorder of autosomal recessive inheritance.","volume":"64","author":"Wynne-Davies","year":"1982","journal-title":"J Bone Joint Surg Br"},{"key":"R4-20250504","doi-asserted-by":"crossref","first-page":"16041","DOI":"10.1038\/hgv.2016.41","article-title":"Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families.","volume":"3","author":"Yan","year":"2016","journal-title":"Hum Genome Var"},{"key":"R5-20250504","doi-asserted-by":"crossref","first-page":"27684","DOI":"10.1038\/srep27684","article-title":"Whole exome screening identifies novel and recurrent WISP3 mutations causing progressive pseudorheumatoid dysplasia in Jammu and Kashmir-India.","volume":"6","author":"Rai","year":"2016","journal-title":"Sci Rep"},{"key":"R6-20250504","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1002\/art.20005","article-title":"WISP3-dependent regulation of type II collagen and aggrecan production in 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findings.","volume":"48","author":"Pomeranz","year":"2019","journal-title":"Skeletal Radiol"},{"key":"R13-20250504","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1007\/s10067-021-05959-2","article-title":"A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment.","volume":"41","author":"Yin","year":"2022","journal-title":"Clin Rheumatol"},{"key":"R14-20250504","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.clinbiomech.2015.09.015","article-title":"Biomechanics of walking in adolescents with progressive pseudorheumatoid arthropathy of childhood leads to physical activity recommendations as therapeutic focus.","volume":"31","author":"Hartmann","year":"2016","journal-title":"Clin Biomech (Bristol, Avon)"},{"key":"R15-20250504","first-page":"586","article-title":"An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive 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