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

Eur J Dermatol. 2001 Nov-Dec;11(6):515-7.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Consanguinity
  • Diagnosis, Differential
  • Female
  • Humans
  • Hypotrichosis / diagnosis*
  • Hypotrichosis / genetics
  • Klippel-Trenaunay-Weber Syndrome / diagnosis
  • Leg
  • Lymphedema / diagnosis*
  • Lymphedema / genetics
  • Noonan Syndrome / diagnosis
  • Pedigree
  • Syndrome
  • Telangiectasis / diagnosis*
  • Telangiectasis / genetics