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Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation

Author

Listed:
  • Taeko Fukutani

    (Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan)

  • Shigeaki Toratani

    (Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan)

  • Taku Kanda

    (Department of Oral and Maxillofacial Surgery, Hiroshima Prefectural Hospital, Hiroshima 734-8530, Japan)

  • Kensaku Matsui

    (Department of Oral and Maxillofacial Surgery, Hiroshima Prefectural Hospital, Hiroshima 734-8530, Japan)

  • Sachiko Yamasaki

    (Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan)

  • Kensaku Sumi

    (Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan)

  • Ikuko Ogawa

    (Center of Oral Clinical Examination, Hiroshima University Hospital, Hiroshima 734-8553, Japan)

  • Souichi Yanamoto

    (Department of Oral Oncology, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8553, Japan)

Abstract

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>C). In conclusion, we suggest that the Gli1 gene (rs2228226 G>C) may be involved in the etiology of SC.

Suggested Citation

  • Taeko Fukutani & Shigeaki Toratani & Taku Kanda & Kensaku Matsui & Sachiko Yamasaki & Kensaku Sumi & Ikuko Ogawa & Souichi Yanamoto, 2022. "Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation," IJERPH, MDPI, vol. 19(8), pages 1-10, April.
    • Handle: RePEc:gam:jijerp:v:19:y:2022:i:8:p:4702-:d:793196
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