Severe gynaecological involvement in Proteus Syndrome.
Fiche publication
Date publication
août 2018
Journal
European journal of medical genetics
Auteurs
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
Lien Pubmed
Résumé
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
Référence
Eur J Med Genet. 2018 Aug 10;: