罕见的Proteus综合征一例报道并文献复习

Report of a rare case with Proteus syndrome and literature review

目的 Proteus综合征是一种极为罕见的疾病,其以细胞的过度镶嵌式生长为特征,可导致不对称生长、良性肿瘤和色素性皮损。我们报道1例Proteus综合征患者的临床特征,以提高对本病的认识。方法患者为35岁男性,明确诊断为Proteus综合征。通过系统分析其临床表现、实验室检查、影像学资料,同时回顾文献从而详细阐述该疾病的病因学、诊断、处理和预后。结果本患者的主要临床表现是一侧肢体的进行性过度生长,导致骨骼畸形和肢体不对称,同时有脑形结缔组织皮损,睾丸显著增大。Proteus综合征的特异性致病因素尚不清楚。目前无血液化验指标可用来诊断本病,只能靠特殊的临床表现和骨骼X线摄片来诊断。本病不能治愈,处理上主要是对症治疗。若正常生理功能受到影响则应行手术治疗骨骼畸形。Proteus综合征的长期预后尚不清楚。发生肿瘤或有重要脏器功能受累的患者可能预后较差。结论骨骼和皮肤的过度生长是Proteus综合征的显著特征,诊断主要靠患者的临床表现和骨骼的影像学检查。

Objective Proteus syndrome is an extremely rare disease characterized by excessive mosaic growth of ceils, which can resuh in asymmetrical growth, benign tumors, and pigmented skin lesions. We describe the clinical eharacters of a case with Proteus syndrome, in order to improve the knowledge of this rare disease. Methods A 35 years old man was diagnosed as Proteus syndrome. His clinieal manifestation, laboratory data, imageology characters were acquired and analyzed. Furtherly, we reviewed the literature to obtain the etiology, diagnosis, treatment and prognosis message about this rare disease in detail. Results The main clinical manifestations of the patient were progressive overgrowth of one side of the limbs which inducted significant skeletal deformation and dissymmetry limbs. The patients also had cerebriform connective tissue nevus and enlarged testiele. The specific cause of Proteus syndrome was still unelear. There was no blood test available to diagnose Proteus syndrome. A diagnosis could be made only by special clinical manifestation and X ray evaluations of the skeletal system. There was no cure for Proteus syndrome. Treatment largely involved the management of effects of the disorder. Surgery to remove an overgrown portion of the bone should be performed if the normal function was affected. The long- term prognosis of Proteus syndrome was not known. Those with tumors and bony over-growth affeeting critical organs likely had a poorer prognosis. Conclusions The progressive over-growth of bone,skin are the obvious manifestation of Proteus syndrome, and the diagnosis mainly depend on the specific clinical and imageologieal manifestations of the bone.