Proteus综合征临床表现及病理分析

Analysis of Clinical Manifestations and Pathological Characteristics of Proteus Syndrome

目的:探究Proteus综合征(Proteus syndrome,PS)的临床表现及病理学特点。方法:分析1996年-2016年本院收治的以巨型脑回状组织增生为特征的10例PS临床病例的临床表现及病理学特征,并复习相关文献。结果:患者均出生时起病,随时间推移逐渐加重,青春期进展迅速。主要表现为头部脑回状纤维结缔组织增生以及全身多发散在黑色素痣,伴或不伴四肢骨骼及软组织不对称性生长及过度增生肥大,血管畸形,面部异常(上睑下垂、眼睑闭合不全)。病理组织学表现为皮层痣细胞巢状或条索状增生,形态和普通黑痣细胞无明显差异,伴胶原纤维增多、成纤维细胞减少等特点。结论:PS是一种罕见的先天性、变形性疾病,具有组织的非对称生长及过度生长特征,疾病的正确诊断需密切结合临床表现。

Objective To explore the characteristics of clinical manifestations and pathological characteristics of PS（Proteus syndrome）. Methods Analysed the clinical and pathological data of 10 patients with Proteus syndrome who were characteristic of cerebriform nevi from 1996 to 2016, and to review pertinent literature. Results All patients were born with some clinical manifestations, which were ingravescent and conspicuous at their puberty. These patients are characterized by cerebriform connective tissue nevi on head and limbs as well as systemic epidermal nevi, with or without asymmetric growth of bone and soft tissue,vascular malformation, facial abnormity （blepharoptosis of upper lid, hypophasis）. Histopathologic examination demonstrated epithelial nests, strands and cords of pathological cells invading the deep dermis,which had no significant difference with the common nevocytes. Histopathology of PS is characterized by the hyperlasia of melanocyte and collagenoue fiber, desmocytic reduction. Conclusion Proteus syndrome is a rarely congenital and variable disorder with tissue asymmetrical and excessive growth. The accurate diagnosis of the disorder mainly depends on clinical manifestations.