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Case Reports
. 2024 Jul-Aug;41(4):714-717.
doi: 10.1111/pde.15582. Epub 2024 Mar 5.

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

María-Laura Cossio  1   2 , Josefina Rodríguez  2 , Juan Carlos Flores  3   4 , Florencia De Barbieri  5 , Álvaro Flores  5   6 , José Marín  7 , Carla Florin  8 , Francisco Cuevas  9 , Monserrat Gutiérrez  4
Affiliations
Case Reports

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

María-Laura Cossio et al. Pediatr Dermatol. 2024 Jul-Aug.

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.

Keywords: pharmacotherapy; vascular anomalies; vascular malformations.

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References

REFERENCES

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