Severe gynaecological involvement in Proteus Syndrome

被引：3

作者：

Severino-Freire, Maella ^{[1
]}

Maza, Aude ^{[1
]}

Kuentz, Paul ^{[2
]}

Duffourd, Yannis ^{[2
]}

Faivre, Laurence ^{[2
,3
]}

Brazet, Edith ^{[4
]}

Chassaing, Nicolas ^{[5
]}

Mery-Lemarche, Eliane ^{[6
]}

Vabres, Pierre ^{[2
,7
]}

Mazereeuw-Hautier, Juliette ^{[1
]}

机构：

[1] Paul Sabatier Univ, CHU Larrey, Reference Ctr Rare Skin Dis, Dept Dermatol, Toulouse, France

[2] UMR INSERM 1231, Genet Dev Anomalies, Dijon, France

[3] CHU Dijon Bourgogne, Dept Genet, Dijon, France

[4] CHU Rangueil, Dept Gynaecol & Obstet, Toulouse, France

[5] CHU Purpan, Dept Med Genet, Toulouse, France

[6] IUC Oncopole, Dept Anat Pathol, Toulouse, France

[7] CHU Dijon Bourgogne, Dept Dermatol, Dijon, France

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2019年 / 62卷 / 04期

关键词：

Proteus syndrome; Gynaecological involvement; AKT1; mutation; DIAGNOSTIC-CRITERIA; MUTATION; PATIENT; TUMORS;

D O I：

10.1016/j.ejmg.2018.08.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p.Glu17Lys), presenting with a severe gynaecological involvement which necessitated a complete hysterectomy and a left adnexectomy. Cases of gynecological involvements in Proteus Syndrome are rare, not well known by physicians while they can be potentially severe.

引用

页码：270 / 272

页数：3

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