Proteus Syndrome: Three Case Reports with a Review of the Literature

被引:9
|
作者
Thomason, Jenna L. [1 ]
Abramowsky, C. R. [1 ]
Rickets, Richard R. [2 ]
Culbertson, John H. [3 ]
Clifton, Matthew S. [2 ]
Shehata, Bahig M. [1 ]
机构
[1] Emory Univ, Sch Med, Dept Pediat & Pathol, Atlanta, GA 30322 USA
[2] Emory Univ, Sch Med, Div Pediat Surg, Atlanta, GA 30322 USA
[3] Emory Univ, Sch Med, Div Plast Surg, Atlanta, GA 30322 USA
关键词
Proteus Syndrome (PS); overgrowth; vascular malformation; proteus; PTEN MUTATIONS; DIAGNOSTIC-CRITERIA; GERMLINE MUTATION; LETHAL GENES; MANAGEMENT; MANIFESTATIONS; HEMIHYPERTROPHY; MALFORMATIONS; ANOMALIES; EVOLUTION;
D O I
10.3109/15513815.2012.656830
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Proteus syndrome (PS) is a rare, progressive disorder that manifests as asymmetric, disproportionate overgrowth affecting tissues derived from any germline layer. Cases of PS from 2005-2010 were retrieved from the pathology files at our institution. Two confirmed cases and one possible case of PS were identified. All patients came from different ethnic backgrounds. Patient 1 displayed classic skin and overgrowth lesions. Patient 2 displayed various features, particularly vascular malformations. Patient 3 demonstrated a cerebriform connective tissue nevus alone. These patients demonstrate the spectrum of presentations of PS. Much is left to learn about this disfiguring disease.
引用
收藏
页码:145 / 153
页数:9
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