Metachondromatosis without Enchondromas: A Case Report and Review of the Literature. Issue 2 (27th April 2016)

• Record Type: Journal Article
• Authors: Kanaya, Kohei; Ishikawa, Aki; Yaoita, Masako; Niihori, Tetsuya; Aoki, Yoko; Iba, Kousuke; Yamashita, Toshihiko
• Is Part Of: JBJS case connector. Volume 6:Issue 2(2016)
• Publication Date: 2016-04-27
• Subjects: Orthopedic surgery -- Case studies -- Periodicals; Orthopedic surgery -- Periodicals; Orthopedics; Orthopedic Procedures; Orthopedic surgery; Periodicals; Electronic journals; Case studies; Periodicals; 616.7
• DOI: 10.2106/JBJS.CC.15.00182
• Languages: English
• ISSNs: 2160-3251

Abstract

Abstract : 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.