The symptoms of CMTC are present at birth (congenital). Affected infants have discolored patches of skin caused by widened (dilated) surface blood vessels (livedoreticularistelangiectases). The affected areas of skin have a “marbled” or “fishnet” appearance (cutis marmorata). In most cases, skin abnormalities affect the arms and legs (limbs), although the trunk may also be involved. Facial involvement is very rare. The skin symptoms associated with classical CMTC improve with age and usually disappear completely around puberty. Atrophic patches may remain. The soft tissue hypoplasia can likewise remain present, in particular if muscles are affected. This has no consequences for normal functionality. In an affected leg, the greater saphenous vein may be too wide. It is not yet known whether this will lead to venous insufficiency later in life.
A plethora of associated abnormalities have been reported. However, careful evaluation of these and more recent cases strongly suggests that the skin abnormalities in these patients are not CMTC but capillary malformations. These can be associated with several syndromic disorders. The ones most commonly mistaken for CMTC variants are Klippel-Trenaunay syndrome, Cowden’s disease and M-CM. Rarely, Adams-Oliver and Proteus(-like) syndromes underlie the vascular abnormalities.
The exact cause of CMTC is not known. Most cases occur randomly, for no apparent reason (spontaneously). Researchers believe that the disease results from genetic mosaicism. One theory suggests that abnormal pericyte recruitment can cause skin capillaries to contract inappropriately. In a few rare cases, it has appeared that CMTC may occasionally run in families (familial cases).
CMTC affects males and females in equal numbers and is present at birth (congenital). 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 true frequency of CMTC in the general population.
The diagnosis of CMTC may be confirmed by a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings.
The skin abnormalities associated with CMTC often go away without treatment (spontaneous remission) within the first years of life. Other treatment is symptomatic and supportive. CMTC of the legs might be associated with early development of superficial venous insufficiency, which may require treatment.
Infants with a diagnosis of CMTC and/or associated abnormalities should be referred to a specialist center. If indicated, they will receive a thorough clinical evaluation to reach a definitive diagnosis. No diagnostic procedures are required if the diagnosis is typical isolated CMTC.
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For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
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Contact for additional information about cutis marmorata telangiectatica congenita:
Prof. Maurice A.M. van Steensel, MD, PhD
Professor of Genetic Dermatology
Department of Dermatology
Maastricht University Medical Center
PO Box 5800
6202 AZ Maastricht
Cutis Marmorata Telangiectatica Congenita ResourcesPlease note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., neurological abnormalities).
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Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Macrocephaly-Capillary Malformation: MCM. Entry No: 602501. Last Edited 11/21/2012. Available at: http://omim.org/entry/602501 Accessed May 21, 2015.
Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Cutis Marmorata Telangiectatic Congenita; CMTC. Entry No: 219250. Last Edited09/04/2009. Available at:http://omim.org/entry/219250 Accessed May 21, 2015.