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Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb.
Cossio, María-Laura; Rodríguez, Josefina; Flores, Juan Carlos; De Barbieri, Florencia; Flores, Álvaro; Marín, José; Florin, Carla; Cuevas, Francisco; Gutiérrez, Monserrat.
Afiliación
  • Cossio ML; Department of Dermatology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Rodríguez J; Department of Dermatology, Hospital Dr. Sótero del Río, Santiago, Chile.
  • Flores JC; Department of Dermatology, Hospital Dr. Sótero del Río, Santiago, Chile.
  • De Barbieri F; Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Flores Á; Department of Pediatrics, Hospital Dr. Sótero del Río, Santiago, Chile.
  • Marín J; Department of Radiology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Florin C; Department of Radiology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
  • Cuevas F; Department of Pediatric Radiology, Hospital Dr. Sótero del Río, Santiago, Chile.
  • Gutiérrez M; Department of Pediatric Neurology, Hospital Dr. Sótero del Río, Santiago, Chile.
Pediatr Dermatol ; 41(4): 714-717, 2024.
Article en En | MEDLINE | ID: mdl-38444084
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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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tiazoles / Fosfatidilinositol 3-Quinasa Clase I Límite: Female / Humans / Infant Idioma: En Revista: Pediatr Dermatol Año: 2024 Tipo del documento: Article País de afiliación: Chile
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tiazoles / Fosfatidilinositol 3-Quinasa Clase I Límite: Female / Humans / Infant Idioma: En Revista: Pediatr Dermatol Año: 2024 Tipo del documento: Article País de afiliación: Chile