儿童Maffucci综合征1例及文献回顾

A Child with Maffucci Syndrome and Literature Review

报告1例儿童Maffucci综合征,并对国内外相关病例进行文献回顾。患儿男,9岁。右手中指肿物发现7年。体检发现双手多根手指、掌指骨膨大畸形,右侧肋骨皮下膨出,左右肋骨不对称。左手大鱼际、拇指蓝紫色皮下结节,右胸胁部见一片形状不规则褐色咖啡斑。X片示双手、肋骨多发内生软骨瘤,B超示左手大鱼际及拇指皮下脂肪层血管瘤。诊断:Maffucci综合征。文献回顾发现,Maffucci综合征临床少见,表现为内生软骨瘤病伴发软组织的血管瘤,治疗上没有特异的方法,旨在减轻临床、缓解疼痛和早期发现恶变,定期随访很重要。从该例患者来看,目前未见合并良恶性肿瘤,但由于该综合征恶变易发生在成年或中老年,所以嘱其随访,以防恶变。

To report a case of child with Maffucci syndrome and review related cases from domestic and foreign litera- tures. A 9-year-old boy presented with a 7-year history of subcutaneous nodule in his right middle finger. Physical examination showed multiple monstrosity in hands and fingers. Subcutaneous swelling in right ribs which led to asymmetry of the ribs and blue-violet subcutaneous nodules in the left thenar and thumb. Right chest appeared with irregularly shaped brownish coffee color spots. X-rays showed multiple enchondromas in his hands and right ribs. B ultrasound showed subcutaneous fat layer hemangioma in the left thenar and thumb. Maffucci syndrome was diagnosed. According to related literatures, Maffucci syndrome is rare, it appears with enchondromas and hemangioma. There is no specific treatment but rather focus on reducing clini- cal symptoms, relieving pain and early detection of malignant transformation. It is important to have regular check. In this case, although benign and malignant tumor was not detected, because of the increased risk of its malignant changes with time, this patient needs to have regular examination in order to evaluate changes which would lead to severe complications.