变形综合征的严重妇科受累情况。
Severe gynaecological involvement in Proteus Syndrome.
作者信息
Severino-Freire Maella, Maza Aude, Kuentz Paul, Duffourd Yannis, Faivre Laurence, Brazet Edith, Chassaing Nicolas, Mery-Lemarche Eliane, Vabres Pierre, Mazereeuw-Hautier Juliette
机构信息
Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France.
Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France.
出版信息
Eur J Med Genet. 2019 Apr;62(4):270-272. doi: 10.1016/j.ejmg.2018.08.003. Epub 2018 Aug 10.
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.
变形综合征是一种罕见的复杂过度生长综合征。我们报告了一名因AKT1基因c.49G > A（p.Glu17Lys）突变导致变形综合征的年轻女性患者，该患者出现严重的妇科病变，需要进行全子宫切除术和左侧附件切除术。变形综合征患者出现妇科病变的情况罕见，医生对此了解不足，但这些病变可能很严重。
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