Cutis Marmorata Telangiectatica Congenita / Disease

Diseases & Conditions

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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: [email protected]
Home page: http://www.cmtc.nl
Cobalamin Network
P.O. Box 174
Thetford Center VT 05075-0174
Phone #: 802-785-4029
800 #: --
e-mail: [email protected]
Home page: N/A
HemiHypertrophy Support
4581 Magnolia Dr.
Suffolk VA 23435
Phone #: 757-271-9000
800 #: N/A
e-mail: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.novanews.org
Nevus Network
The Congenital Nevus Support Group
West Salem OH 44287
Phone #: 419-853-4525
800 #: --
e-mail: [email protected]
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: [email protected]
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: [email protected]
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