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NORD is very grateful to Maurice A.M. van Steensel, MD, PhD, Professor of Genetic Dermatology, Department of Dermatology, Maastricht University Medical Center, The Netherlands, for assistance in the preparation of this report.
Cutis marmorata telangiectatica congenita (CMTC) is a rare inherited disorder characterized by discolored patches of skin caused by widened (dilated) surface blood vessels. 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. The disorder formerly known as macrocephaly-cutis marmorata telangiectatica congenital (M-CMTC) is a distinct genetic disease and is now called macrocephaly-capillary malformation (M-CM/MCAP) Virtually all cases of CMTC occur randomly for no apparent reason (sporadically). It is thought that CMTC represents a form of genetic mosaicism.
The symptoms of CMTC are present at birth (congenital). Affected infants have discolored patches of skin caused by widened (dilated) surface blood vessels (livedo reticularis telangiectases). 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 syndrome 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.
Symptoms of the following disorders can be similar to those of CMTC. Comparisons may be useful for a differential diagnosis:
Cutis marmorata is a transient skin disorder in which the skin has a bluish red marbling pattern when exposed to cold temperatures. This condition is found most often in infants but may also affect adults. When the skin is warmed the condition disappears. Cutis marmorata is very common in premature infants and usually disappears completely at two months of age. Cutis marmorata may occur in conjunction with other syndromes but is not diagnostic.
Klippel-Trenaunay syndrome is a rare disorder that is present at birth (congenital), characterized by the triad of cutaneous capillary malformation (port-wine stain), bone and soft tissue hypertrophy, and venous varicosities. Lymphatic malformations also can be present. The symptoms and findings associated with the disorder vary in range and severity from case to case. (For more information on this disorder, choose "Klippel-Trenaunay" as your search term in the Rare Disease Database.)
Adams-Oliver syndrome (AOS) is an extremely rare inherited disorder characterized by defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs. The physical abnormalities associated with this disorder vary greatly among affected individuals. Some cases may be very mild while others may be severe. In infants with Adams-Oliver syndrome, scalp defects are present at birth (congenital) and may include one or multiple hairless scarred areas that may have abnormally wide (dilated) blood vessels directly under the affected skin. In severe cases, an underlying defect of the bones of the skull may also be present. In addition, infants with this disorder typically have malformations of the hands, arms, feet, and/or legs. These range from abnormally short fingers and toes with small or absent nails to absent hands and/or lower legs. In some cases, additional abnormalities may also be present.). Adams-Oliver syndrome is caused by mutations in ARHGAP31. An association with CMTC has been reported but may have been a coincidence. Inheritance is autosomal dominant. (For more information on this disorder, choose "Adams-Oliver" as your search term in the Rare Disease Database.)
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. Yearly duplex ultrasound examination from early puberty is recommended.
Infants with a diagnosis of CMTC and 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.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
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For information about clinical trials sponsored by private sources, contact:
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
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., neurological abnormalities).
(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at email@example.com.)
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Report last updated: 2012/03/15 00:00:00 GMT+0