Metachondromatosis without enchondromas

Kohei Kanaya, Aki Ishikawa, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Kousuke Iba, Toshihiko Yamashita

Research output: Contribution to journalReview articlepeer-review

2 Citations (Scopus)


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.

Original languageEnglish
Article numbere30
JournalJBJS case connector
Issue number2
Publication statusPublished - 2016 Jan 1

ASJC Scopus subject areas

  • Surgery
  • Orthopedics and Sports Medicine


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