KLIPPEL-TRENAUNAY-TYPE SYNDROME - AN EPONYM FOR VARIOUS EXPRESSIONS OF THE SAME ENTITY

Klippel-Trenaunay (KT) or as it is also called Klippel-Trenaunay-Weber (KTW) syndrome is a rare congenital phacomatosis of uncertain aetiolo gy and variable expression. The classical syndrome is a triad of conge nital mesodermal abnormalities characterized by cutaneous angiomatous nevus commonly called port-wine stain, venous varicosities and hypertr ophy of soft tissue and/or overgrowth of bone of one or more limbs. Cl inically, a diversity of phenotypes with subjacent malformations may b e encountered all having in common abnormalities of the mesoblastic sh eets that include angioblastic, lymphoblastic and osteoblastic lineage s. Each of them may give rise to malformations that may exist alone or in an unlimited diversity of associations. We present three widely di fferent clinical expressions of this syndrome and we support the propo sal to group ail these malformations under the eponym of Klippel-Trena unay-Type (KTT) syndrome.