TY - JOUR
T1 - Metachondromatosis without enchondromas
AU - Kanaya, Kohei
AU - Ishikawa, Aki
AU - Yaoita, Masako
AU - Niihori, Tetsuya
AU - Aoki, Yoko
AU - Iba, Kousuke
AU - Yamashita, Toshihiko
PY - 2016/1/1
Y1 - 2016/1/1
N2 - 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.
AB - 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.
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U2 - 10.2106/JBJS.CC.15.00182
DO - 10.2106/JBJS.CC.15.00182
M3 - Review article
AN - SCOPUS:84977112032
SN - 2160-3251
VL - 6
JO - JBJS Case Connector
JF - JBJS Case Connector
IS - 2
M1 - e30
ER -