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

María-Laura CossioJosefina RodríguezJuan Carlos FloresFlorencia De BarbieriÁlvaro FloresJosé MarínCarla FlorinFrancisco CuevasMonserrat Gutiérrez

Published in: Pediatric dermatology (2024)

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.

Keyphrases

spectrum disorder
early onset
protein kinase
case report