Trevor氏病是一種少見的骨骼發展疾病,現在較常使用的名稱為半側肢體骨?發育不良,即是長在骨?板上的骨軟骨瘤,我們報告一位21歲的女性,從3歲起就因右踝關節內側逐漸腫大而困擾,在外面的醫院都被當作是受傷後的變化來治療,直到來我們醫院後才根據其獨特的影像表現而診斷為Trevor氏病,此診斷也獲得開刀後的病理報告證實;回顧過去的相關文獻,我們發現此病例在台灣地區極為罕見,值得提出來討論,同時我們發現經由影像檢查不但能獲得正確診斷,對手術前評估也有幫助。
Trevor’s disease, or dysplasia epiphysealis hemimelica (DEH), is an uncommon skeletal developmental disorder representing an osteochondroma arising from 1 or more epiphyses. We present the case of a 21-year-old female who had suffered from a hard protruding mass of the right ankle for more than 10 years. It was mistakenly thought to be posttraumatic osseous fragments by a local practitioner since her childhood. However, DEH was diagnosed with the characteristic image findings and proven by the pathology report after an operation. Review of the related literature shows that this disease is rare in Taiwan. The imaging studies, which are helpful in making a correct diagnosis and proper preoperative plan, are also discussed.