The challenges of Proteus syndrome: diagnosis and management
The challenges of Proteus syndrome: diagnosis and management
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DOI：
10.1038/sj.ejhg.5201638
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发表时间：
2006-11-01
影响因子：
5.2
通讯作者：
Biesecker, Leslie
中科院分区：
文献类型：
--
作者：
Biesecker, Leslie
变形综合征（PS）是一种病因不明的斑片状或镶嵌状出生后过度生长的疾病。过度生长的发作通常发生在婴儿期，并且可以涉及身体的任何组织。通常涉及的组织包括结缔组织和骨骼，皮肤，中枢神经系统，眼睛，但它显然可以影响任何组织。PS的诊断困难，诊断标准存在争议。我们的小组提倡严格的诊断标准，以促进研究和适当的临床护理。严格标准的好处是，他们定义了一个临床组，是合理的同质性方面的表现和预后。PS的过度生长是渐进的，可能难以管理。进行性过度生长最常引起严重的骨科并发症，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。有效的管理需要广泛的表现和疾病的并发症的知识和团队的方法，包括遗传学家，外科医生和其他专家。
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.