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 |
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| container_end_page | 717 |
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| container_issue | 4 |
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| container_title | Pediatric dermatology |
| container_volume | 41 |
| creator | Cossio, María-Laura Rodríguez, Josefina Flores, Juan Carlos De Barbieri, Florencia Flores, Álvaro Marín, José Florin, Carla Cuevas, Francisco Gutiérrez, Monserrat |
| description | 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. |
| doi_str_mv | 10.1111/pde.15582 |
| format | Article |
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| ispartof | Pediatric dermatology, 2024-07, Vol.41 (4), p.714-717 |
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| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | 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 |
| title | Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb |
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