Forgács Balázs
Jahn Ferenc Dél-pesti Kórház Szakrendelő Bőrgyógyászati és Onkodermatológiai Szakambulancia Budapest Pannónia u. 85. 1133.
Orv Hetil. 2012 Jul 1;153(26):1035-8. doi: 10.1556/OH.2012.29386.
Mafucci's syndrome is a rare genetic but non-hereditary disorder, characterized by multiple enchondromas (enchondromatosis), hemangiomas and, rarely, lymphangiomas. The risk for malignant transformation of enchondromas is very high, and chondrosarcomas can develop which mainly metastatize to the lungs. A case report of a 61-years-old male, whose enchondromatosis developed at his age of 10 years, is described. The initial diagnosis had been Ollier's disease at that time, and it was modified to Mafucci's syndrome only in 1995 when hemangiomatosis developed on the right hand. He had a unilateral disorder affecting his right upper and lower extremities. In 2010, a chondrosarcoma developed on his right leg and amputation was performed. In 2012, a thoracic CT scan revealed pulmonary metastases on both sides. This case report underlines the importance of the multidisciplinary approach and cooperation between various specialties in diagnosing and early detecting this type of cancer. Orv. Hetil., 2012, 153, 1035-1038.
马富西综合征是一种罕见的遗传性但非遗传性疾病，其特征为多发性内生软骨瘤（内生软骨瘤病）、血管瘤，很少见的还有淋巴管瘤。内生软骨瘤恶变风险很高，可发展为软骨肉瘤，主要转移至肺部。本文描述了一例61岁男性病例，其内生软骨瘤病于10岁时发病。当时最初诊断为奥利尔病，直到1995年右手出现血管瘤病时才改为马富西综合征。他患有单侧疾病，累及右上肢和下肢。2010年，其右腿出现软骨肉瘤并进行了截肢手术。2012年，胸部CT扫描显示双侧肺转移。该病例报告强调了多学科方法以及各专业之间合作在诊断和早期检测此类癌症中的重要性。《匈牙利医学周报》，2012年，153卷，1035 - 1038页。
