Proteus综合征的临床影像学表现（附2例报告和文献复习）

目的分析Proteus综合征的临床影像学表现特征,提高对本病的认识。方法报告二例符合Proteus综合征诊断标准的病例,分析其临床、影像表现特征并复习文献。结果 Proteus综合征的临床和影像表现错综复杂,以多发性、过度生长的错构瘤、脑回状结缔组织痣、皮肤痣和偏侧肥大,巨脂（趾）,颅骨畸形,颅内多发肿瘤,多发外生骨疣,骨肥厚,掌、指骨征阳性以及血管畸形等为特征。结论 Proteus综合征临床表现和影像表现缺乏特异性,诊断困难,提高对本病的认识是正确诊断的关键,影像表现结合临床资料,对诊断有一定的提示作用。

Clinical and Imaging Findings of Proteus Syndrome

Objective To analyze the clinical manifestations and X ray features of Proteus syndrome and improve the understanding and diagnosis about it.Methods Two cases of Proteus syndrome were reported.Clinical manifestations and X ray features of the cases were summarized and literatures were reviewed.Results The clinical manifestations and imaging findings of Proteus syndrome are highly variable which are characterized by overgrowth hamartoma,cerebriform connective tissue nevi,epidermal nevi,hyperostosis and vascular malformation.Conclusion Proteus syndrome is lack of characteristic clinical manifestations and imaging features and difficult to diagnosis.Improving understanding of the disease is very important for the correct diagnosis.Imaging findings combined with clinical data might have diagnostic value for the disease.