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Severe gynaecological involvement in Proteus Syndrome.
Severino-Freire, Maella; Maza, Aude; Kuentz, Paul; Duffourd, Yannis; Faivre, Laurence; Brazet, Edith; Chassaing, Nicolas; Mery-Lemarche, Eliane; Vabres, Pierre; Mazereeuw-Hautier, Juliette.
Afiliación
  • Severino-Freire M; Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France. Electronic address: severino-freire.m@chu-toulouse.fr.
  • Maza A; Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France.
  • Kuentz P; Genetics of Developmental Anomalies, UMR INSERM 1231, Dijon, France.
  • Duffourd Y; Genetics of Developmental Anomalies, UMR INSERM 1231, Dijon, France.
  • Faivre L; Genetics of Developmental Anomalies, UMR INSERM 1231, Dijon, France; Department of Genetics, CHU Dijon-Bourgogne, Dijon, France.
  • Brazet E; Department of Gynaecology and Obstetrics, CHU Rangueil, Toulouse, France.
  • Chassaing N; Department of Medical Genetics, CHU Purpan, Toulouse, France.
  • Mery-Lemarche E; Department of Anatomical Pathology, IUC Oncopole, Toulouse, France.
  • Vabres P; Genetics of Developmental Anomalies, UMR INSERM 1231, Dijon, France; Department of Dermatology, CHU Dijon-Bourgogne, Dijon, France.
  • Mazereeuw-Hautier J; Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France.
Eur J Med Genet ; 62(4): 270-272, 2019 Apr.
Article en En | MEDLINE | ID: mdl-30103035
ABSTRACT
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.
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Texto completo: 1 Colección: 01-internacional Asunto principal: Fenotipo / Enfermedades Uterinas / Síndrome de Proteo Límite: Adult / Female / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Asunto principal: Fenotipo / Enfermedades Uterinas / Síndrome de Proteo Límite: Adult / Female / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article