Metachondromatosis without Enchondromas
| Autor: | Kohei Kanaya, Yoko Aoki, Masako Yaoita, Aki Ishikawa, Toshihiko Yamashita, Tetsuya Niihori, Kousuke Iba |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine medicine.medical_specialty Multiple osteochondroma business.industry medicine.disease Dermatology Peripheral blood 030218 nuclear medicine & medical imaging Surgery PTPN11 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine Orthopedics and Sports Medicine business Metachondromatosis Heterozygous mutation |
| Zdroj: | JBJS Case Connector. 6:e30 |
| ISSN: | 2160-3251 |
| Popis: | Case: A nine-year-old boy had multiple osteochondromas in the hands, feet, and tibiae, many of which pointed toward the adjacent joint. Although several were treated surgically, others resolved spontaneously. A heterozygous mutation in the PTPN11 gene was identified by genetic analysis of peripheral blood, so the patient was diagnosed with metachondromatosis despite the absence of enchondromatous lesions. Conclusion: To the best of our knowledge, this is the first reported case of a patient with metachondromatosis without any enchondromatous lesions. |
| Databáze: | OpenAIRE |
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