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Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
Denorme, Pieter; Morren, Marie-Anne; Hollants, Silke; Spaepen, Marijke; Suaer, Kate; Zutterman, Nele; Labarque, Veerle; Legius, Eric; Brems, Hilde.
Afiliação
  • Denorme P; Department of Dermatology, Microbiology, and Immunology, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
  • Morren MA; Department of Dermatology, Microbiology, and Immunology, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
  • Hollants S; Department of Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
  • Spaepen M; Department of Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
  • Suaer K; Department of Paediatric Medicine, AZ Sint-Jan, Brugge, Belgium.
  • Zutterman N; Department of Dermatology, AZ Sint-Lucas, Brugge, Belgium.
  • Labarque V; Department of Paediatric Medicine, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
  • Legius E; Department of Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven, Belgium.
  • Brems H; Department of Human Genetics, Katholieke Universiteit Leuven, Leuven, Belgium.
Pediatr Dermatol ; 35(3): e186-e188, 2018 May.
Article em En | MEDLINE | ID: mdl-29493003
A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-Related Overgrowth Spectrum (PROS) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities (CLOVES) syndrome and Megalencephaly-Capillary malformation Polymicrogyria (MCAP) syndrome and underlines the utility of this umbrella term.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Telangiectasia / Anormalidades Múltiplas / Dermatopatias Vasculares / Malformações Vasculares / Megalencefalia / Classe I de Fosfatidilinositol 3-Quinases / Lipoma / Anormalidades Musculoesqueléticas / Nevo Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Telangiectasia / Anormalidades Múltiplas / Dermatopatias Vasculares / Malformações Vasculares / Megalencefalia / Classe I de Fosfatidilinositol 3-Quinases / Lipoma / Anormalidades Musculoesqueléticas / Nevo Idioma: En Ano de publicação: 2018 Tipo de documento: Article