Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
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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MEDLINE
Assunto principal:
Telangiectasia
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Anormalidades Múltiplas
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Dermatopatias Vasculares
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Malformações Vasculares
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Megalencefalia
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Classe I de Fosfatidilinositol 3-Quinases
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Lipoma
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Anormalidades Musculoesqueléticas
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Nevo
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article