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
  • Van Lohuizen Syndrome
  • Congenital Generalized Phlebectasia

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
The Congenital Nevus Support Group
P.O. Box 305
West Salem, OH 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

Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
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 Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 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/Health_Info

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
Bitterschoten 15
3831 PC
Leusdan,
The Netherlands
Tel: +31-33-494 66 71
Email: mailto: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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

National Organization of Vascular Anomalies
PO Box 38216
Greensboro, NC 27438-8216
Email: Khall@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

For a Complete Report

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

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