Article
Severe gynaecological involvement in Proteus Syndrome.
European journal of medical genetics - 1 Apr 2019
Severino-Freire Maella, Maza Aude, Kuentz Paul, Duffourd Yannis, Faivre Laurence, Brazet Edith, Chassaing Nicolas, Mery-Lemarche Eliane, Vabres Pierre, Mazereeuw-Hautier Juliette
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.