Klippel-Trenaunay Syndrome Belongs to the Pik3ca-Related Overgrowth Spectrum (Pros) Publisher Pubmed



Vahidnezhad H^{1, 2} ; Youssefian L^{1, 3} ; Uitto J¹
Source: Experimental Dermatology Published:2016

Abstract

Klippel-Trenaunay syndrome (KTS), originally described as a triad of cutaneous capillary malformation, bone and soft-tissue hypertrophy, as well as venous and lymphatic malformations, has been considered by dermatologists as a distinct diagnostic entity. However, cases with KTS have also been reported to have neurological disorders, developmental delay and digital abnormalities, indicating multisystem involvement. Recently, a number of overgrowth syndromes, with overlapping phenotypic features with KTS, have been identified; these include MCAP and CLOVES syndromes as well as fibroadipose hyperplasia. These conditions harbour mutations in the PIK3CA gene, and they have been included in the PIK3CA-related overgrowth spectrum (PROS). Based on recent demonstrations of PIK3CA mutations also in KTS, it appears that, rather than being a distinct diagnostic entity, KTS belongs to PROS. These observations have potential diagnostic and therapeutic implications for KTS. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.