DOI: 10.1111/pde.15582 ISSN: 0736-8046
Four‐month‐old with severe PIK3CA ‐related overgrowth spectrum disorder successfully treated with alpelisb
María‐Laura Cossio, Josefina Rodríguez, Juan Carlos Flores, Florencia De Barbieri, Álvaro Flores, José Marín, Carla Florin, Francisco Cuevas, Monserrat Gutiérrez - Dermatology
- Pediatrics, Perinatology and Child Health
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.