Severe gynaecological involvement in Proteus Syndrome.

Date publication

août 2018

Journal

European journal of medical genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr VABRES Pierre , Pr KUENTZ Paul

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

https://www.ncbi.nlm.nih.gov/pubmed/30103035

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;: