Proteus syndrome: An update

被引：101

作者：

Cohen, MM ^{[1
]}

机构：

[1] Dalhousie Univ, Halifax, NS B3H 3J5, Canada

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2005年 / 137C卷 / 01期

关键词：

cerebriform connective tissue nevus; epidermal nevus; vascular malformations; dysregulated adipose tissue; disproportionate and asymmetric overgrowth; skeletal abnormalities; tumors; lipoma; ovarian cystadenoma; meningioma; pulmonary embolism; cystic lung alterations; somatic mosaicism; diagnostic criteria; misdiagnosis; evaluation and management;

D O I：

10.1002/ajmg.c.30063

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Proteus syndrome is a complex disorder consisting variably of disproportionate, asymmetric overgrowth of body parts; cerebriform connective tissue nevi; epidermal nevi; vascular malformations of the capillary, venous, and lymphatic types; and dysregulated adipose tissue. Serious complications may ensue, such as pulmonary embolism, cystic lung disease, and various neoplasms. Somatic mosaicism, lethal in the nonmosaic state, is the best working hypothesis. Although Proteus syndrome data are consistent with this hypothesis, it has not been proven. The etiology is unknown to date. Diagnostic criteria are emphasized because misdiagnosis of Proteus syndrome is common. Finally, evaluation and management are discussed. (c) 2005 Wiley-Liss, Inc.

引用

页码：38 / 52

页数：15

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