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

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

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 w...

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Veröffentlicht in:Pediatric dermatology 2024-07, Vol.41 (4), p.714-717
Hauptverfasser: Cossio, María-Laura, Rodríguez, Josefina, Flores, Juan Carlos, De Barbieri, Florencia, Flores, Álvaro, Marín, José, Florin, Carla, Cuevas, Francisco, Gutiérrez, Monserrat
Format: Artikel
Sprache:eng
Schlagworte:
Babies
Case reports
Class I Phosphatidylinositol 3-Kinases - genetics
Female
Genetic disorders
Growth disorders
Humans
Infant
Inhibitor drugs
Lipoma
Musculoskeletal Abnormalities
Mutation
Nephrocalcinosis - genetics
Nevus
Pediatrics
Phenotypes
Thiazoles - therapeutic use
Vascular Malformations - drug therapy
Vascular Malformations - genetics
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Zusammenfassung: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.
ISSN:0736-8046
1525-1470
1525-1470
DOI:10.1111/pde.15582