° Pathogenic variants in PIK3CA and PTEN are associated with allelic disorder, like Cowden syndrome (CS), Congenital Lipomatous Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies (CLOVES), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN Hamartoma Tumor Syndrome (PHTS) and PTEN-related Proteus-like syndrome (PLS). Here, PIK3CA is linked to Bannayan-Riley-Ruvalcaba syndrome.