Article
Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb.
Pediatric dermatology - 1 Jan 2000
Cossio María-Laura, Rodríguez Josefina, Flores Juan Carlos, De Barbieri Florencia, Flores Álvaro, Marín José, Florin Carla, Cuevas Francisco, Gutiérrez Monserrat
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.