Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation.
Taeko FukutaniShigeaki TorataniTaku KandaKensaku MatsuiSachiko YamasakiKensaku SumiIkuko OgawaSouichi YanamotoPublished in: International journal of environmental research and public health (2022)
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.
Keyphrases
- magnetic resonance imaging
- end stage renal disease
- ejection fraction
- newly diagnosed
- contrast enhanced
- chronic kidney disease
- computed tomography
- prognostic factors
- minimally invasive
- peritoneal dialysis
- gene expression
- genome wide
- chronic pain
- transcription factor
- coronary artery disease
- atrial fibrillation
- copy number
- positron emission tomography
- body composition
- percutaneous coronary intervention
- image quality
- genome wide identification
- bone loss
- pet imaging
- bone regeneration