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

Maria-Laura Cossio, Josefina Rodriguez, Juan Carlos Flores,Florencia De Barbieri, Alvaro Flores, Jose Marin, Carla Florin, Francisco Cuevas, Monserrat Gutierrez

PEDIATRIC DERMATOLOGY（2024）

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摘要

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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pharmacotherapy,vascular anomalies,vascular malformations

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