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A case report of Proteus syndrome (PS).
BMC Medical Genetics Pub Date : 2020-01-21 , DOI: 10.1186/s12881-020-0949-x
Xiaoyun Zeng 1 , Xiaoming Wen 1 , Xinxin Liang 1 , Lina Wang 1 , Lingling Xu 1
Affiliation  

BACKGROUND Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia. CASE PRESENTATION Herein, a PS case with atypical clinical features and syndromes was reported, to improve the understanding of the diagnosis and treatment of the disease. The case was a 3-year-and-11-month-old male child. He was admitted due to a primary diagnosis of McCune-Albright syndrome. After admission, the lesion samples from the milk coffee spots, and nodular thickening skin at hands and feet were subjected to genetic screening. Genetic testing results confirmed the diagnosis of PS. CONCLUSIONS Based on the clinical manifestations, laboratory tests, imaging data, and literature reviewing, the etiology, diagnosis, treatment and prognosis of PS have been analyzed and discussed.

中文翻译:

变形杆菌综合征(PS)的一例报告。

背景技术变形杆菌综合征(PS)是一种极为罕见的疾病,其特征在于细胞的过度嵌合生长以及进行性和不规则性不对称增生。病例表述在此报道了具有非典型临床特征和综合征的PS例,以增进对疾病诊断和治疗的理解。该病例为3岁11个月大的男孩。他因对McCune-Albright综合征进行初步诊断而入院。入院后,对来自牛奶咖啡斑点的病变样品以及手脚的结节性增厚皮肤进行基因筛查。基因检测结果证实了PS的诊断。结论根据临床表现,实验室检查,影像学数据和文献复习,病因,诊断,
更新日期:2020-01-22
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