Severe gynaecological involvement in Proteus Syndrome.

Adult Female Humans Hysterectomy Mutation, Missense Phenotype Proteus Syndrome / genetics Proto-Oncogene Proteins c-akt / genetics Uterine Diseases / genetics
AKT1 mutation Gynaecological involvement Proteus syndrome

Journal

European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089

Informations de publication

Date de publication:
Apr 2019
Historique:
received: 18 12 2017
revised: 26 07 2018
accepted: 09 08 2018
pubmed: 14 8 2018
medline: 2 4 2019
entrez: 14 8 2018
Statut: ppublish

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.

Identifiants

DOI: 10.1016/j.ejmg.2018.08.003 PMID: 30103035
pubmed: 30103035
pii: S1769-7212(17)30834-0
doi: 10.1016/j.ejmg.2018.08.003
pii:
doi:

Substances chimiques

AKT1 protein, human EC 2.7.11.1
Proto-Oncogene Proteins c-akt EC 2.7.11.1

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

270-272

Informations de copyright

Copyright © 2018. Published by Elsevier Masson SAS.

Auteurs

Maella 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.

Aude Maza (A)

Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France.

Paul Kuentz (P)

Genetics of Developmental Anomalies, UMR INSERM 1231, Dijon, France.

Yannis Duffourd (Y)

Genetics of Developmental Anomalies, UMR INSERM 1231, Dijon, France.

Laurence Faivre (L)

Genetics of Developmental Anomalies, UMR INSERM 1231, Dijon, France; Department of Genetics, CHU Dijon-Bourgogne, Dijon, France.

Edith Brazet (E)

Department of Gynaecology and Obstetrics, CHU Rangueil, Toulouse, France.

Nicolas Chassaing (N)

Department of Medical Genetics, CHU Purpan, Toulouse, France.

Eliane Mery-Lemarche (E)

Department of Anatomical Pathology, IUC Oncopole, Toulouse, France.

Pierre Vabres (P)

Genetics of Developmental Anomalies, UMR INSERM 1231, Dijon, France; Department of Dermatology, CHU Dijon-Bourgogne, Dijon, France.

Juliette Mazereeuw-Hautier (J)

Department of Dermatology, Reference Centre for Rare Skin Diseases, CHU Larrey, Paul Sabatier University, Toulouse, France.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Severe gynaecological involvement in Proteus Syndrome.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Severe gynaecological involvement in Proteus Syndrome.
questionsmedicales.fr › Procédures de chirurgie opératoire › Procédures de chirurgie urogénitale › Procédures de chirurgie gynécologique › Hystérectomie › Severe gynaecological involvement in Proteus Syndrome.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Severe gynaecological involvement in Proteus Syndrome.
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Severe gynaecological involvement in Proteus Syndrome.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil locomoteur › Anomalies morphologiques congénitales des membres › Syndrome de Protée › Severe gynaecological involvement in Proteus Syndrome.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines oncogènes › Protéines proto-oncogènes › Protéines proto-oncogènes c-akt › Severe gynaecological involvement in Proteus Syndrome.
questionsmedicales.fr › Maladies urogénitales › Maladies génitales › Maladies de l'appareil génital féminin › Maladies de l'utérus › Severe gynaecological involvement in Proteus Syndrome.