Arthralgia and joint deformity, rheumatoid arthritis? or nail-patella syndrome?

Arthralgia and joint deformity, rheumatoid arthritis? or nail-patella syndrome? | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Arthralgia and joint deformity, rheumatoid arthritis? or nail-patella syndrome? Kazuya Matsumoto, Yoshinori Matsumoto, Shoichi Nawachi, Yuya Terajima, and 11 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-2899788/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 14 Feb, 2024 Read the published version in BMC Musculoskeletal Disorders → Version 1 posted 11 You are reading this latest preprint version Abstract Background: Nail-patella syndrome (NPS) is a rare autosomal dominant systemic disorder that is characterized by dysplasia of the nails, hypoplasia or aplasia of the patella, dislocation of the elbow and the presence of iliac horns. Rheumatoid arthritis (RA) is an autoimmune disorder of the joints characterized by inflammatory arthritis and subsequent joint destruction. Of note, NPS and RA share some musculoskeletal symptoms such as swan-neck deformities of the fingers and joint dislocation, and renal and neural involvement is also observed in these diseases. The prevalences of NPS and RA are 1/50000 and 1/100-1/200, respectively, while no case of NPS co-existing with RA has been reported. Case presentation: Here, we present the first reported case of nail-patella syndrome co-existing with rheumatoid arthritis. A 74-year-old man who had a past history of glaucoma and elbow dislocation was admitted to our hospital due to an 8-month history of arthralgia in bilateral wrists, elbows and fingers. An X-ray showed deformity of bilateral radial heads and joint space narrowing in the right elbow, and magnetic resonance imaging of his hands showed synovitis and erosion in the multiple swollen joints of the wrists and fingers. In addition to these typical features of rheumatoid arthritis, he had bilateral thumb nail dysplasia with mild hypoplasia of bilateral patella and iliac horns as shown by the X-ray. He was diagnosed as having autosomal dominant disorder nail-patella syndrome co-existing with rheumatoid arthritis and he was treated with methotrexate in combination with an oral Janus kinase (JAK) inhibitor, leading to induction of remission. Conclusions: On the basis of their prevalences, the coexistence of nail-patella syndrome and rheumatoid arthritis with overlapped features, including arthralgia, joint deformity and dislocation, glomerulonephritis and neurological abnormality, could be observed in real-world clinical practice. Since the therapeutic strategy for and the prognosis of these diseases are different, appropriate diagnosis based on clinical and radiographic findings is required to improve future prognosis. (314 words) Figures Figure 1 Full Text Additional Declarations No competing interests reported. Cite Share Download PDF Status: Published Journal Publication published 14 Feb, 2024 Read the published version in BMC Musculoskeletal Disorders → Version 1 posted Editorial decision: Revision requested 31 Oct, 2023 Editorial decision: Major revision 31 Oct, 2023 Reviews received at journal 16 Oct, 2023 Reviews received at journal 12 Oct, 2023 Reviewers agreed at journal 12 Oct, 2023 Reviewers agreed at journal 12 Oct, 2023 Reviewers invited by journal 21 May, 2023 Editor assigned by journal 21 May, 2023 Editor invited by journal 14 May, 2023 Submission checks completed at journal 14 May, 2023 First submitted to journal 05 May, 2023 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-2899788","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":200227779,"identity":"366d370a-6a6e-440d-9394-443d4a392faa","order_by":0,"name":"Kazuya Matsumoto","email":"","orcid":"","institution":"Okayama University Faculty of Medicine","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Kazuya","middleName":"","lastName":"Matsumoto","suffix":""},{"id":200227780,"identity":"31a4fc1d-1386-4b86-b25f-70dd632f3dc1","order_by":1,"name":"Yoshinori 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Dysplasia on the ulnar border of bilateral thumb nails (upper) and triangular lunules (lower). (B) X-ray of the knees showed mild hypoplasia of bilateral patella and degeneration of the left knee. (C) X-ray of the elbows showed hypoplasia of the radial head and joint space narrowing in the right elbow. (D) MRI of the hands showed synovitis with synovial hyperplasia, bone marrow edema and erosion in bilateral wrists, proximal interphalangeal and metacarpal phalangeal joints. (E) X-ray of the pelvis showed bilateral iliac horns (arrow).\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-2899788/v1/d2a80cce227772468ee31511.png"},{"id":51323326,"identity":"9e4e8311-7464-401f-8171-65078d0ca4fe","added_by":"auto","created_at":"2024-02-19 15:16:55","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":307188,"visible":true,"origin":"","legend":"","description":"","filename":"20230505nailpatellaRA.pdf","url":"https://assets-eu.researchsquare.com/files/rs-2899788/v1_covered_018dd328-e09b-4708-b4dc-5e0d366573e0.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Arthralgia and joint deformity, rheumatoid arthritis? or nail-patella syndrome?","fulltext":[],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":false,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":true,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":true,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"bmc-musculoskeletal-disorders","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bmsd","sideBox":"Learn more about [BMC Musculoskeletal Disorders](http://bmcmusculoskeletdisord.biomedcentral.com/)","snPcode":"","submissionUrl":"https://author-welcome.nature.com/12891","title":"BMC Musculoskeletal Disorders","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true},"keywords":"","lastPublishedDoi":"10.21203/rs.3.rs-2899788/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-2899788/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"Background: Nail-patella syndrome (NPS) is a rare autosomal dominant systemic disorder that is characterized by dysplasia of the nails, hypoplasia or aplasia of the patella, dislocation of the elbow and the presence of iliac horns. Rheumatoid arthritis (RA) is an autoimmune disorder of the joints characterized by inflammatory arthritis and subsequent joint destruction. Of note, NPS and RA share some musculoskeletal symptoms such as swan-neck deformities of the fingers and joint dislocation, and renal and neural involvement is also observed in these diseases. The prevalences of NPS and RA are 1/50000 and 1/100-1/200, respectively, while no case of NPS co-existing with RA has been reported.\nCase presentation: Here, we present the first reported case of nail-patella syndrome co-existing with rheumatoid arthritis. A 74-year-old man who had a past history of glaucoma and elbow dislocation was admitted to our hospital due to an 8-month history of arthralgia in bilateral wrists, elbows and fingers. An X-ray showed deformity of bilateral radial heads and joint space narrowing in the right elbow, and magnetic resonance imaging of his hands showed synovitis and erosion in the multiple swollen joints of the wrists and fingers. In addition to these typical features of rheumatoid arthritis, he had bilateral thumb nail dysplasia with mild hypoplasia of bilateral patella and iliac horns as shown by the X-ray. He was diagnosed as having autosomal dominant disorder nail-patella syndrome co-existing with rheumatoid arthritis and he was treated with methotrexate in combination with an oral Janus kinase (JAK) inhibitor, leading to induction of remission.\nConclusions: On the basis of their prevalences, the coexistence of nail-patella syndrome and rheumatoid arthritis with overlapped features, including arthralgia, joint deformity and dislocation, glomerulonephritis and neurological abnormality, could be observed in real-world clinical practice. Since the therapeutic strategy for and the prognosis of these diseases are different, appropriate diagnosis based on clinical and radiographic findings is required to improve future prognosis. (314 words)","manuscriptTitle":"Arthralgia and joint deformity, rheumatoid arthritis? or nail-patella syndrome?","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2023-05-16 15:20:36","doi":"10.21203/rs.3.rs-2899788/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2023-10-31T09:52:51+00:00","index":"","fulltext":""},{"type":"decision","content":"Major revision","date":"2023-10-31T09:52:51+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2023-10-16T09:23:52+00:00","index":"hide","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2023-10-12T08:32:20+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"9fb6a52b-1df4-490b-84fb-dc640a93a1e7","date":"2023-10-12T05:18:30+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"37925e94-dcf7-4ac0-99da-8e0e64bc4126","date":"2023-10-12T04:46:14+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2023-05-21T17:52:51+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2023-05-21T17:44:42+00:00","index":"","fulltext":""},{"type":"editorInvited","content":"","date":"2023-05-14T06:44:55+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2023-05-14T06:39:05+00:00","index":"","fulltext":""},{"type":"submitted","content":"BMC Musculoskeletal Disorders","date":"2023-05-05T23:39:53+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"bmc-musculoskeletal-disorders","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"bmsd","sideBox":"Learn more about [BMC Musculoskeletal Disorders](http://bmcmusculoskeletdisord.biomedcentral.com/)","snPcode":"","submissionUrl":"https://author-welcome.nature.com/12891","title":"BMC Musculoskeletal Disorders","twitterHandle":"BMC_series","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"BMC Series","inReviewEnabled":true,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"e87dc985-aa34-42d4-a7e3-6ba017168f2e","owner":[],"postedDate":"May 16th, 2023","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[],"tags":[],"updatedAt":"2024-02-19T15:13:36+00:00","versionOfRecord":{"articleIdentity":"rs-2899788","link":"https://doi.org/10.1186/s12891-024-07242-2","journal":{"identity":"bmc-musculoskeletal-disorders","isVorOnly":false,"title":"BMC Musculoskeletal Disorders"},"publishedOn":"2024-02-14 15:01:24","publishedOnDateReadable":"February 14th, 2024"},"versionCreatedAt":"2023-05-16 15:20:36","video":"","vorDoi":"10.1186/s12891-024-07242-2","vorDoiUrl":"https://doi.org/10.1186/s12891-024-07242-2","workflowStages":[]},"version":"v1","identity":"rs-2899788","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-2899788","identity":"rs-2899788","version":["v1"]},"buildId":"-HB7Z8yhvgn0wM9Nzuekk","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}