Severe gynaecological involvement in Proteus Syndrome.

Fiche publication

Date publication

août 2018


European journal of medical genetics


Membres identifiés du Cancéropôle Est :
Pr VABRES Pierre

Tous les auteurs :
Severino-Freire M, Maza A, Kuentz P, Duffourd Y, Fiavre L, Brazet E, Chassaing N, Mery-Lemarche E, Vabres P, Mazereeuw-Hautier J


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.

Mots clés

AKT1 mutation, Gynaecological involvement, Proteus syndrome


Eur J Med Genet. 2018 Aug 10;: