Biesecker Leslie
National Human Genome Research Institute, Building 49 Room 4A80, Bethesda, MD 20892, USA.
Eur J Hum Genet. 2006 Nov;14(11):1151-7. doi: 10.1038/sj.ejhg.5201638. Epub 2006 Aug 2.
Proteus syndrome (PS) is a disorder of patchy or mosaic postnatal overgrowth of unknown etiology. The onset of overgrowth typically occurs in infancy and can involve any tissue of the body. Commonly involved tissues include connective tissue and bone, skin, central nervous system, the eye, but it apparently can affect any tissue. Diagnosing of PS is difficult and the diagnostic criteria are controversial. Our group advocates stringent diagnostic criteria to facilitate research and appropriate clinical care. The benefit of strict criteria is that they define a clinical group that is reasonably homogenous with respect to manifestations and prognosis. The overgrowth of PS is progressive and can be difficult to manage. The progressive overgrowth most commonly causes severe orthopaedic complications, but it can cause many other complications. One of the most common complications in patients with PS is deep venous thrombosis and pulmonary embolism, which can cause premature death. Effective management requires knowledge of the wide array of manifestations and complications of the disorder and a team approach that includes the geneticist, surgeons, and other specialists.
变形综合征（PS）是一种病因不明的后天性斑片状或镶嵌性过度生长疾病。过度生长通常始于婴儿期，可累及身体的任何组织。常见受累组织包括结缔组织和骨骼、皮肤、中枢神经系统、眼睛，但显然它可影响任何组织。PS的诊断困难，诊断标准存在争议。我们团队主张采用严格的诊断标准以促进研究和恰当的临床护理。严格标准的好处在于它们定义了一个在临床表现和预后方面具有合理同质性的临床群体。PS的过度生长是渐进性的，可能难以处理。渐进性过度生长最常导致严重的骨科并发症，但也可引起许多其他并发症。PS患者最常见的并发症之一是深静脉血栓形成和肺栓塞，可导致过早死亡。有效的管理需要了解该疾病广泛的临床表现和并发症，并采用包括遗传学家、外科医生和其他专家在内的团队方法。
