Diseases & Conditions


Cutis Marmorata Telangiectatica Congenita

Synonyms of Cutis Marmorata Telangiectatica Congenita
  • CMTC
  • Congenital Generalized Phlebectasia
  • Van Lohuizen Syndrome

Disorder Subdivisions

    General Discussion
    Cutis marmorata telangiectatica congenita (CMTC) is a rare inherited disorder characterized by discolored patches of skin caused by widened (dilated) surface blood vessels (livedo reticularis telangiectases). As a result, the skin has a purple or blue marbled or fishnet appearance (cutis marmorata). In some affected individuals, ulcerations or congenital skin defects (aplasia cutis) can be present. The latter association can be part of Adams-Oliver syndrome. . Additional associated abnormalities have been reported including pink or dark red, irregularly shaped patches of skin (nevus flammeus); loss of muscle tissue (wasting) on one side of the body (hemiatrophy); elevated fluid pressure within the eye (glaucoma); and/or undergrowth (hypotrophy) of one leg. However, many if not all of those cases represent forms of Klippel-Trenaunay syndrome or related disorders, in particular Cowden?s disease. The most common association of true CMTC is with soft tissue (subcutaneous fat and muscle) hypoplasia. A distinct subdivision of CMTC was formerly identified as macrocephaly-CMTC. However, in M-CMTC, the skin abnormalities are actually capillary malformations and they of CMTC occur in association with an abnormally large head (macrocephaly) and the potential development of cerebral and neurological abnormalities. Virtually all cases of CMTC occur randomly for no apparent reason (sporadically). It is thought that CMTC represents a form of genetic mosaicism.

    Organizations related to Cutis Marmorata Telangiectatica Congenita
    • CMTC
      Bitterschoten 15
      Leusden Intl None
      Phone #: +31--33--494 66 71
      800 #: N/A
      e-mail: president@cmtc.nl
      Home page: http://www.cmtc.nl
    • Cobalamin Network
      P.O. Box 174
      Thetford Center VT 05075-0174
      Phone #: 802-785-4029
      800 #: --
      e-mail: SueBee18@valley.net
      Home page: N/A
    • HemiHypertrophy Support
      4581 Magnolia Dr.
      Suffolk VA 23435
      Phone #: 757-271-9000
      800 #: N/A
      e-mail: administrator@hemisupport.com
      Home page: http://www.hemisupport.com
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • National Organization of Vascular Anomalies
      PO Box 0358
      Findlay OH 45840-0358
      Phone #: N/A
      800 #: N/A
      e-mail: Khall@mail.novanews.org
      Home page: http://www.novanews.org
    • Nevus Network
      The Congenital Nevus Support Group
      West Salem OH 44287
      Phone #: 419-853-4525
      800 #: --
      e-mail: info@nevusnetwork.org
      Home page: http://www.nevusnetwork.org
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.org/
    • Vascular Birthmarks Foundation
      P.O. Box 106
      Latham NY 12110
      Phone #: N/A
      800 #: 877-823-4646
      e-mail: hvbf@aol.com
      Home page: http://www.birthmark.org

    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html