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It presents with symptoms that may resemble those of juvenile idiopathic arthritis, making diagnosis challenging for clinicians. The identification of MAF BZIP Transcription Factor B (MAFB) mutations as significant contributors to MCTO represents a major breakthrough in our understanding of the pathogenesis of this rare skeletal disorder.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Our objective was to present the phenotype, treatment, and outcome of a patient with a variant of MAFB-induced MCTO to broaden the range of clinical features associated with MCTO and share our clinical experience for improved diagnosis and treatment. In our case, early MRI examination of the bones and whole exome sequencing enabled an early and accurate MCTO diagnosis, and timely Denosumab administration resulted in no deterioration.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This suggests that MRI examination and whole exome sequencing should be considered when MCTO is suspected, and Denosumab might be an option in the treatment of MCTO.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12969-024-00964-6","type":"journal-article","created":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T10:14:15Z","timestamp":1710324855000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Multicentric carpotarsal osteolysis syndrome with variants of MAFB gene: a case report and literature review"],"prefix":"10.1186","volume":"22","author":[{"given":"Xianfei","family":"Gao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang","family":"Fang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danping","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Song","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7166-0941","authenticated-orcid":false,"given":"Huasong","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,3,13]]},"reference":[{"key":"964_CR1","doi-asserted-by":"crossref","unstructured":"Drovandi S, Lugani F, Boyer O, La Porta E, Giordano P, Hummel A et al. Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review. J Clin Med. 2022;11(15).","DOI":"10.3390\/jcm11154423"},{"issue":"1","key":"964_CR2","doi-asserted-by":"publisher","first-page":"6","DOI":"10.5334\/jbsr.3018","volume":"107","author":"L Tannouri","year":"2023","unstructured":"Tannouri L, Simoni P. Multicentric Carpo-Tarsal Osteolysis. J Belg Soc Radiol. 2023;107(1):6.","journal-title":"J Belg Soc Radiol"},{"key":"964_CR3","doi-asserted-by":"publisher","first-page":"745812","DOI":"10.3389\/fped.2021.745812","volume":"9","author":"J Wu","year":"2021","unstructured":"Wu J, Wang L, Xu Y, Zhang Z, Yan X, An Y, et al. Multicentric Carpo-Tarsal Osteolysis Syndrome Mimicking Juvenile Idiopathic Arthritis: two case reports and review of the literature. 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Written informed consent to participate in this study was provided by the participant\u2019s legal guardian\/next of kin. Written informed consent was obtained from the individual(s), and minor(s)\u2019 legal guardian\/next of kin, for the publication of any potentially identifiable images or data included in this article.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent to publish has to be obtained from the child\u2019s parent. All presentations of case reports have consent to publish.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"37"}}