Bachert C
HNO. 1985 Oct;33(10):472-4.
A 21-year-old patient with multiple hemangiomas in the mouth and in the skin of the neck and a simultaneous enchondromatosis in the hands is described. This congenital mesodermal dysplasia cannot be classified under known syndromes. It is named after Angelo Maffucci and is a combination of an enchondromatosis and multiple haemangiomatosis. Maffucci described this syndrome in 1881. After the presentation of the syndrome and differential diagnostic considerations of other diseases belonging to the neurocutaneous group of dysplasia, the author attempts to classify the patient described.
本文描述了一名21岁患者,其口腔、颈部皮肤有多处血管瘤,手部同时患有内生软骨瘤病。这种先天性中胚层发育异常无法归类于已知综合征。它以安杰洛·马富奇(Angelo Maffucci)命名,是内生软骨瘤病和多发性血管瘤病的组合。马富奇于1881年描述了这种综合征。在介绍该综合征并对属于神经皮肤发育异常组的其他疾病进行鉴别诊断后,作者尝试对所描述的患者进行分类。