Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome?

Abstract

We describe a girl of Turkish descent suffering from a peculiar combination of symptoms. The presenting complaint was bilateral lymphedema of the legs; additional symptoms include hypotrichosis, telangiectasias and angiomata limited to acral regions. We discuss the possibility that this girl suffers from Noonan/cardio-facio-cutaneous syndrome. We conclude that the combination of symptoms listed here probably represents a new syndrome for which we propose the name hypotrichosis-lymphedema-telangiectasia syndrome.