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Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation
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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9030668/ https://www.ncbi.nlm.nih.gov/pubmed/35457572 http://dx.doi.org/10.3390/ijerph19084702 |
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author | Fukutani, Taeko Toratani, Shigeaki Kanda, Taku Matsui, Kensaku Yamasaki, Sachiko Sumi, Kensaku Ogawa, Ikuko Yanamoto, Souichi |
author_facet | Fukutani, Taeko Toratani, Shigeaki Kanda, Taku Matsui, Kensaku Yamasaki, Sachiko Sumi, Kensaku Ogawa, Ikuko Yanamoto, Souichi |
author_sort | Fukutani, Taeko |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9030668 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-90306682022-04-23 Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation Fukutani, Taeko Toratani, Shigeaki Kanda, Taku Matsui, Kensaku Yamasaki, Sachiko Sumi, Kensaku Ogawa, Ikuko Yanamoto, Souichi Int J Environ Res Public Health Case Report 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. MDPI 2022-04-13 /pmc/articles/PMC9030668/ /pubmed/35457572 http://dx.doi.org/10.3390/ijerph19084702 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Fukutani, Taeko Toratani, Shigeaki Kanda, Taku Matsui, Kensaku Yamasaki, Sachiko Sumi, Kensaku Ogawa, Ikuko Yanamoto, Souichi Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation |
title | Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation |
title_full | Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation |
title_fullStr | Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation |
title_full_unstemmed | Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation |
title_short | Two Cases of Temporomandibular Synovial Chondromatosis Associated with Gli1 Gene Mutation |
title_sort | two cases of temporomandibular synovial chondromatosis associated with gli1 gene mutation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9030668/ https://www.ncbi.nlm.nih.gov/pubmed/35457572 http://dx.doi.org/10.3390/ijerph19084702 |
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