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A case report of Proteus syndrome (PS).

Authors :
Zeng, Xiaoyun
Wen, Xiaoming
Liang, Xinxin
Wang, Lina
Xu, Lingling
Source :
BMC Medical Genetics; 1/21/2020, Vol. 21 Issue 1, p1-4, 4p
Publication Year :
2020

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
14712350
Volume :
21
Issue :
1
Database :
Complementary Index
Journal :
BMC Medical Genetics
Publication Type :
Academic Journal
Accession number :
141317391
Full Text :
https://doi.org/10.1186/s12881-020-0949-x