title: 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.
authors.affiliation: Dermatology Department, Streekziekenhuis Midden-Twente, The Netherlands.
authors.forename: C
authors.initials: C
authors.lastname: Glade
authors.forename: M A
authors.initials: MA
authors.lastname: van Steensel
authors.forename: P M
authors.initials: PM
authors.lastname: Steijlen
mesh_terms: D002648:Child; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis* / Q000235:genetics; D007715:Klippel-Trenaunay-Weber Syndrome / Q000175:diagnosis; D007866:Leg; D008209:Lymphedema / Q000175:diagnosis* / Q000235:genetics; D009634:Noonan Syndrome / Q000175:diagnosis; D010375:Pedigree; D013577:Syndrome; D013684:Telangiectasis / Q000175:diagnosis* / Q000235:genetics