Casal Diogo, Mavioso Carlos, Mendes Maria-Manuel, Mouzinho Maria-Manuel
Department of Plastic and Reconstructive Surgery, São José Hospital, Lisboa, Portugal.
Acta Reumatol Port. 2010 Jul-Sep;35(3):375-8.
Ollier Disease and Maffucci Syndrome are two rare diseases that can cause tumors in several organs, having a special predilection for the hand. However, there have been very few reports in the literature focusing on hand manifestations of these diseases. We report the cases of three female patients: one with Ollier Disease, and two other with Maffucci Syndrome. All patients had hand involvement as their initial primary complaint. The Ollier Disease patient developed chondrosarcomas of two digits and had to have these fingers amputated. One of the Maffucci patients died one year after presentation from a brain glioblastoma. These cases emphasize the importance of early diagnosis of Ollier Disease and Maffucci Syndrome, as these two conditions are associated not only to crippling hand deformity, but also to a significant risk of chondrosarcoma, and other malignant tumors.
骨软骨瘤病（Ollier病）和马富西综合征（Maffucci综合征）是两种罕见疾病，可在多个器官引发肿瘤，对手部有特殊偏好。然而，文献中很少有专注于这些疾病手部表现的报道。我们报告三例女性患者的病例：一例患有骨软骨瘤病，另外两例患有马富西综合征。所有患者均以手部受累作为最初的主要诉求。骨软骨瘤病患者的两个手指发生了软骨肉瘤，不得不进行截肢。其中一名马富西综合征患者在就诊一年后死于脑胶质母细胞瘤。这些病例强调了早期诊断骨软骨瘤病和马富西综合征的重要性，因为这两种病症不仅会导致严重的手部畸形，还会带来软骨肉瘤及其他恶性肿瘤的重大风险。
