Four‐month‐old with severe <scp><i>PIK3CA</i></scp>‐related overgrowth spectrum disorder successfully treated with alpelisb-Reference-Cited by-同舟云学术

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

Published:2024-03-05 Issue:4 Volume:41 Page:714-717
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Cossio María‐Laura¹²^ORCID,Rodríguez Josefina²,Flores Juan Carlos³⁴,De Barbieri Florencia⁵,Flores Álvaro⁵⁶,Marín José⁷,Florin Carla⁸,Cuevas Francisco⁹,Gutiérrez Monserrat⁴

Affiliation:

1. Department of Dermatology, Faculty of Medicine Pontificia Universidad Católica de Chile Santiago Chile

2. Department of Dermatology Hospital Dr. Sótero del Río Santiago Chile

3. Division of Pediatrics, School of Medicine Pontificia Universidad Católica de Chile Santiago Chile

4. Department of Pediatrics Hospital Dr. Sótero del Río Santiago Chile

5. Department of Radiology, Faculty of Medicine Pontificia Universidad Católica de Chile Santiago Chile

6. Department of Pediatric Radiology Hospital Dr. Sótero del Río Santiago Chile

7. Department of Pediatric Neurology Hospital Dr. Sótero del Río Santiago Chile

8. Department of Pediatric Plastic Surgery Hospital Dr. Sótero del Río Santiago Chile

9. Department of Pediatrics Hospital Josefina Martínez Santiago Chile

Abstract

AbstractPIK3CA‐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.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15582

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