Natural history and etiology of Proteus syndrome

变形综合征是一种罕见的散发性综合征，可导致进行性、斑片状过度生长、骨扭曲或变形、肿瘤易感性和智力迟钝。本项目的目的是确定Proteus综合征的自然历史和病因学。自然史和表型范围将通过临床评估和一组患者的纵向随访来确定。对PS的自然历史和表型范围所知甚少。文献中充斥着声称患有PS但明显不符合诊断标准的患者的病例报告。由于这种嵌合体在患者中是固有的可变的，因此对于被假设为体细胞嵌合体的疾病所影响的患者，应该预期会出现一些诊断上的混乱。为了解决这个问题，我们建议积累一个具有PS和重叠表型的患者队列，并随时间跟踪他们。由于这种疾病通常在出生时或出生后不久就会出现，并且似乎至少会发展到20多岁，因此有必要进行长期随访。病因学将使用各种比较分子生物学技术进行研究，包括代表性差异分析、cDNA阵列和其他技术。

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 20's, it will be necessary to have long-term follow-up. The etiology will be studied using various comparative molecular biology techniques including representational difference analysis, cDNA arrays, and other techniques.