DOI: 10.1093/bjd/ljae167 ISSN: 0007-0963
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome
Paul Kuentz, Camille Engel, Mathieu Laeng, Martin Chevarin, Yannis Duffourd, Jéhanne Martel, Juliette Piard, Fanny Morice-Picard, Helene Aubert, Didier Bessis, Anne-Marie Guerrot, Annabel Maruani, Olivia Boccara, Juliette Mazereeuw-Hautier, Hagen Ott, Alice Phan, Eve Puzenat, Chloe Quelin, Christel Thauvin-Robinet, Laurence Faivre, Pierre Vabres- Dermatology
Here we report 19 additional mosaic PIK3R1 patients with clinical phenotyping, showing that the PIK3R1 phenotype is indistinguishable from the PIK3CA-related phenotypes, although the MCAP phenotype is consistently absent in PIK3R1 patients. We also report novel PIK3R1 variants. We consider that the meaning of PROS should shift from “PIK3CA-related overgrowth spectrum” to “PI3-kinase-related overgrowth spectrum”.