Mathys L, Jenzer A, Della Santa D
Department of Hand and Plastic Surgery, University Hospital of Berne, Freiburgstrasse, 3010 Berne, Switzerland.
Chir Main. 2010 Feb;29(1):36-9. doi: 10.1016/j.main.2009.11.002. Epub 2009 Dec 2.
The Maffucci syndrome consists of a combination of multiple enchondromas and haemangiomas. It appears in the first two decades of life, with no family history. In this case we are reporting about a 26-year-old female who had suffered from multiple enchondromas since the age of two. At the age of nine, the patient presented with additional haemangiomas, which facilitated making proper diagnosis. She now presents with a massive lesion of her left upper extremity. The patient had initially rejected operative treatment when the disease was at early stages. At later stages, a more complex reconstruction of the hand would have been necessary to secure hand function. This procedure that sometimes induces a risk related to potential necessity of blood transfusion was rejected by the patient for religious reasons. Amputation of the extremity was therefore the last resort procedure.
马富西综合征由多发性内生软骨瘤和血管瘤合并而成。它出现在生命的前二十年，无家族病史。在此病例中，我们报告一名26岁女性，她自两岁起就患有多发性内生软骨瘤。九岁时，患者出现了额外的血管瘤，这有助于做出正确诊断。她现在左上肢有一个巨大病变。患者在疾病早期最初拒绝手术治疗。在疾病后期，为了确保手部功能，需要进行更复杂的手部重建手术。由于宗教原因，患者拒绝了这种有时会因潜在输血必要性而带来风险的手术。因此，截肢成为了最后的治疗手段。
