Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).
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.
Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.|Molecular Medicine Division, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Hassan
H
Vahidnezhad
Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.|Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Leila
L
Youssefian
Department of Dermatology and Cutaneous Biology, The Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.
Jouni
J
Uitto
D000273:Adipose Tissue / Q000473:pathology; D049109:Cell Proliferation; D058534:Class I Phosphatidylinositol 3-Kinases; D006801:Humans; D006965:Hyperplasia; D007715:Klippel-Trenaunay-Weber Syndrome / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D008067:Lipoma / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D009139:Musculoskeletal Abnormalities / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D020125:Mutation, Missense; D009506:Nevus / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D019869:Phosphatidylinositol 3-Kinases / Q000378:metabolism*; D010766:Phosphorylation; D051057:Proto-Oncogene Proteins c-akt / Q000378:metabolism; D015398:Signal Transduction; D058570:TOR Serine-Threonine Kinases / Q000378:metabolism; D054079:Vascular Malformations / Q000145:classification / Q000175:diagnosis* / Q000235:genetics
D058534:Class I Phosphatidylinositol 3-Kinases; D019869:Phosphatidylinositol 3-Kinases; D051057:Proto-Oncogene Proteins c-akt; D058570:TOR Serine-Threonine Kinases; C546842:MTOR protein, human; C484760:PIK3CA protein, human; C494918:AKT1 protein, human
CLOVES syndrome; Klippel-Trenaunay syndrome; PIK3CA-related overgrowth spectrum; fibroadipose hyperplasia