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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cutis marmorata telangiectatica congenita


Other Names for this Disease
  • CMTC
  • Hereditary cutis marmorata telangiectatica congenita
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Symptoms


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What are the signs and symptoms of cutis marmorata telangiectatica congenita?

In most cases, the symptoms of CMTC are present at birth (congenital). The most noticeable change occurs during the first year of life. Affected infants usually have discolored patches of skin caused by widened (dilated) surface blood vessels. The affected areas of skin have a "marbled" or "fishnet" appearance (cutis marmorata). In most cases, the skin abnormalities affect the arms and legs, although the trunk may also be involved. The skin symptoms usually improve with age and disappear completely around puberty. The soft tissue hypoplasia can likewise remain present, in particular if muscles are affected. This has no consequences for normal functionality.[1]
Last updated: 5/25/2011

References
  1. Cutis marmorata telangiectatica congenita. National Organization for Rare Disorders (NORD). 2009; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1000/viewAbstract. Accessed 5/25/2011.