Article ISI
 (2024)

Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb

Cossio M.L.; Rodriguez, J; Flores J.C.; De Barbieri F.; Flores A.; Marin J.; Florin, C; Cuevas F.; Gutiérrez, M.

Keywords: pharmacotherapy, vascular malformations, vascular anomalies

Abstract

PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.

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Título según WOS: Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb
Volumen: 41
Número: 4
Fecha de publicación: 2024
Página de inicio: 714
Página final: 717
Idioma: English
DOI:

10.1111/pde.15582
Notas: ISI