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Cutis Marmorata Telangiectatica Congenita

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Cutis Marmorata Telangiectatica Congenita is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • CMTC
  • congenital generalized phlebectasia
  • Van Lohuizen syndrome

Disorder Subdivisions

  • None

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.

Resources

Nevus Network
PO Box 305
West Salem, NC 44287
USA
Tel: (419)853-4525
Fax: (405)377-3403
Email: info@nevusnetwork.org
Internet: http://www.nevusnetwork.org/

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

The Arc
1660 L Street, NW, Suite 301
Washington, DC 20036
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org

Cobalamin Network
P.O. Box 174
Thetford Center, VT 05075-0174
USA
Tel: (802)785-4029
Email: suebee18@valley.net

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/

Vascular Birthmarks Foundation
P.O. Box 106
Latham, NY 12110
USA
Tel: (877)823-4646
Email: hvbf@aol.com
Internet: http://www.birthmark.org

CMTC-OVM Association
Bitterschoten 15
3831 PC
Leusdan,
The Netherlands
Tel: +31-33-494 66 71
Email: president@cmtc.nl
Internet: http://www.cmtc.nl

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

National Organization of Vascular Anomalies
PO Box 38216
Greensboro, NC 27438-8216
Email: admin@mail.novanews.org
Internet: http://www.novanews.org

Hemihypertrophy Support
4581 Magnolia Dr.
Suffolk, VA 23435
Tel: (757)615-3686
Email: hemihypertrophy@yahoogroups.com
Internet: http://www.hemisupport.com

Venous Disease Coalition
1075 S. Yukon Street, Suite 320
Suite 320
Lakewood, CO 80226
Tel: (303)989-0500
Fax: (303)989-0200
Tel: (888)833-4463
Email: info@venousdiseasecoalition.org
Internet: http://www.venousdiseasecoalition.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  6/25/2010
Copyright  1994, 2002, 2005, 2009 National Organization for Rare Disorders, Inc.

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