{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T11:59:05Z","timestamp":1769083145206,"version":"3.49.0"},"reference-count":23,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T00:00:00Z","timestamp":1649808000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Synovial chondromatosis (SC) is a rare benign disease involving multifocal generation of ectopic cartilage in the synovial tissue. Herein, we report two cases of SC in the temporomandibular joint: a 38-year-old woman (patient 1) and 39-year-old woman (patient 2). Both patients had trismus, jaw joint noises, and jaw-opening pain in the temporomandibular joint. Cone-beam computed tomography (CT) and magnetic resonance imaging (MRI) in patient 1 showed multiple calcified loose bodies around the right mandibular condyle. In addition, CT and MRI in patient 2 showed multiple calcified loose bodies around the left mandibular condyle and temporal bone perforation. Following establishing a diagnosis of SC, both patients underwent tumor resection via open surgery. In immunohistochemical examinations of the resected tissues, tumor cells showed intense nuclear staining with labeled anti-Gli1 antibody. Gene sequencing revealed that both patients had a homozygous mutation in the Gli1 gene (rs2228226 G&gt;C). In conclusion, we suggest that the Gli1 gene (rs2228226 G&gt;C) may be involved in the etiology of SC.<\/jats:p>","DOI":"10.3390\/ijerph19084702","type":"journal-article","created":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T21:33:42Z","timestamp":1649885622000},"page":"4702","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation"],"prefix":"10.3390","volume":"19","author":[{"given":"Taeko","family":"Fukutani","sequence":"first","affiliation":[{"name":"Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeaki","family":"Toratani","sequence":"additional","affiliation":[{"name":"Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taku","family":"Kanda","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Hiroshima Prefectural Hospital, Hiroshima 734-8530, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kensaku","family":"Matsui","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, Hiroshima Prefectural Hospital, Hiroshima 734-8530, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0390-7014","authenticated-orcid":false,"given":"Sachiko","family":"Yamasaki","sequence":"additional","affiliation":[{"name":"Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kensaku","family":"Sumi","sequence":"additional","affiliation":[{"name":"Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ikuko","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Center of Oral Clinical Examination, Hiroshima University Hospital, Hiroshima 734-8553, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Souichi","family":"Yanamoto","sequence":"additional","affiliation":[{"name":"Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,4,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"77","DOI":"10.2106\/00004623-196244010-00006","article-title":"Articular synovial chondromatosis","volume":"44","author":"Murphy","year":"1962","journal-title":"J. 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