Reize P, Schönthaler M, Sell S
Orthopädische Universitätsklinik Tübingen.
Z Orthop Ihre Grenzgeb. 1997 Mar-Apr;135(2):174-8. doi: 10.1055/s-2008-1039576.
The Proteus-syndrome is a recently described congenital hamartomatosis consisting of numerous clinical features of great variety. Mainly affected are the musculo-skeletal system, primarily by hemihypertrophy, macrodactyly and exostoses, and the skin and the subcutaneous tissue, primarily by pigmented naevi and subcutaneous tumors. The differential diagnosis includes other malformation syndromes, e. g. Klippel-Trenaunay-Weber syndrome and other hamartomatosis. Surgical intervention and treatment is difficult because of a frequency of complications and recurrences. This article describes clinical manifestations of Proteus syndrome, differential diagnosis and therapeutic strategies.
变形综合征是一种最近才被描述的先天性错构瘤病,具有众多各种各样的临床特征。主要受累的是肌肉骨骼系统,主要表现为半身肥大、巨指(趾)症和外生骨疣,以及皮肤和皮下组织,主要表现为色素痣和皮下肿瘤。鉴别诊断包括其他畸形综合征,如克-特-韦综合征和其他错构瘤病。由于并发症和复发的频率较高,手术干预和治疗都很困难。本文描述了变形综合征的临床表现、鉴别诊断和治疗策略。