Phenotypic variability within PIK3CA-Related Overgrowth Spectrum, illustrated by two cases

Abstract

PIK3CA-related overgrowth spectrum refers to a heterogeneous group of disorders caused by somatic pathogenic variants in the PIK3CA gene. Starting from two cases we recently diagnosed in our practice, ‘Progressive Macrodactyly’ and ‘Capillary andLymphatic malformation, Asymmetry of face and limbs, Partial or generalized Overgrowth’, we illustrate the broad phenotypic variability possible within PIK3CA-related overgrowth spectrum. Current literature suggests the absence of a genotype-phenotype correlation. Further research is needed to establish a more adequate classification and a more accurate treatment.