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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is cutis marmorata telangiectatica congenita?

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


What causes cutis marmorata telangiectatica congenita?

How might cutis marmorata telangiectatica congenita be treated?

What is cutis marmorata telangiectatica congenita?

Cutis marmorata telangiectatica congenita is a birth defect involving the skin and blood vessels. It is characterized by cutis marmorata, telangiectasia, and phlebectasia (varicose vein). It is occasionally associated with skin ulceration or skin atrophy. It can occur alone or along with other birth defects, particularly those involving abnormalities of the blood vessels. The cause is thought to be multifactorial with possible genetic or environmental factors involved.[1]
Last updated: 5/25/2011

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.[2]
Last updated: 5/25/2011

What causes cutis marmorata telangiectatica congenita?

The exact cause of CMTC is not known. Fewer than 300 cases of CMTC have been reported in the medical literature. Since many cases of CMTC are mild and clear up without treatment, the disorder may be under-diagnosed making it difficult to determine the exact cause. Most cases occur randomly, for no apparent reason. Researchers believe that several factors, such as a virus, may contribute to the development of the disorder (multifactorial). In a few rare cases, CMTC may occasionally run in families.[2]
Last updated: 5/25/2011

How might cutis marmorata telangiectatica congenita be treated?

Most patients with CMTC show gradual but definite improvement with age. The most noticeable change occurs during the first year of life. After this time, fading of the mottled skin pattern slows down, but continues as the skin matures and thickens. Treatment is symptomatic and supportive. CMTC of the legs can be associated with early development of superficial venous insufficiency which may require treatment. Infants with a diagnosis of CMTC and associated abnormalities should be referred to a specialist.[2]
Last updated: 5/25/2011

References
  1. Grevelink SV, Mulliken JB. Vascular Anomalies and Tumors of Skin and Subcutaneous Tissues. In: Fitzpatrick et al.,. Dermatology in General Medicine. New York, NY: McGraw-Hill; 2003;
  2. 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.


Other Names for this Disease
  • CMTC
  • Hereditary cutis marmorata telangiectatica congenita
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.