Natural history and etiology of Proteus syndrome

变形综合征是一种罕见的散发性综合征，可引起进行性、斑片状过度生长、骨扭曲或变形、肿瘤易感性和智力低下。这个项目的目的是确定变形综合征的自然史和病因。将通过临床评估和患者队列的纵向随访确定自然史和表型范围。关于PS的自然史和表型的范围知之甚少。文献中充斥着声称患有明显不符合诊断标准的PS患者的病例报告。一些诊断混乱应该是预期的患者受到一种疾病，这是假设是由于体细胞镶嵌，因为这种镶嵌是固有的变量之间的患者。为了解决这个问题，我们建议建立一个PS和重叠表型患者队列，并随时间推移对其进行随访。由于这种疾病通常在出生时或出生后不久就很明显，而且似乎至少会发展到20多岁，因此有必要进行长期随访。其病因学已被研究使用各种比较分子生物学技术，包括代表性差异分析，cDNA阵列，和其他技术。我们目前正在分析表达式数组数据。 我们还进行了回顾性文献综述，并根据我们的临床标准对所有先前发表的患者进行了重新分类。这项分析表明，该疾病的致死率高于以前认为的，影响男性多于女性，并发症发生率高。

Proteus syndrome is a rare, sporadic syndrome that causes progressive, patchy overgrowth, bony distortion or deformation, tumor predisposition, and mental retardation. The purpose of this project is to determine the natural history and etiology of Proteus syndrome. The natural history and the phenotypic range will be determined by clinical assessment and longitudinal follow-up of a cohort of patients. Very little is known about the natural history and the range of the phenotype of PS. The literature is awash with case reports of patients claimed to have PS who clearly do not meet diagnostic criteria. Some diagnostic confusion should be expected for patients affected by a disorder that is hypothesized to be due to somatic mosaicism, as this mosaicism is inherently variable among patients. To address this issue, we propose to accrue a cohort of patients with PS and overlapping phenotypes and follow them over time. As the disorder is usually apparent at or soon after birth and appears to evolve at least into the 20s, it will be necessary to have long-term follow-up. The etiology has been studied using various comparative molecular biology techniques including representational difference analysis, cDNA arrays, and other techniques. We are currently in the process of analyzing expression array data. We have also performed a retrospective literature review and reclassified all previously published patients according to our clinical criteria. This analysis shows that the lethality of the disorder is higher than previously believed, affects more males than females, and has a high rate of complications.