Cutis Marmorata Telangiectatica Congenita

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Cutis Marmorata Telangiectatica Congenita is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • CMTC
  • Van Lohuizen syndrome

Disorder Subdivisions

  • None

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. 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).

Affected Populations

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.

Standard Therapies


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.

Investigational Therapies

Information on current clinical trials is posted on the Internet at 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

TTY: (866) 411-1010


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

The Netherlands

Tel: 0031433875290

Fax: 0031433877293



Gerritsen MJP, Gerritsen R. Cutis Marmorata Telangiectatica Congenita. In: NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003:1000.

Buyse ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990: 476-77.


Wright DR, Frieden IJ, Orlow SJ, et al. The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. Arch Dermatol. 2009;145(3):287-293.

Toriello HV, Mulliken JB. Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).Am J Med Genet A 2007;143A:3009.

Lapunzina P, et al. Macrocephaly-cutis marmorata telangiectasia congenita: report of six new patients and a review. Am J Med Genet. 2004;15:45-51.

Akcar N, et al. A case of macrocephaly-cutis marmorata telangiectasia congenita and review of neuroradiologic features. Ann Genet. 2004;47:261-5.

Giuliano F, et al. Macrocephaly-cutis marmorata telangiectasia congenita: seven cases including two with unusual cerebral manifestations. Am J Med Genet. 2004;126A:99-103.

Garzon MC, Schweiger E. Cutis marmorata telangiectasia congenita. Semin Cutan Med Surg. 2004;23:99-106.

Yano S, Watanabe Y. Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome. Am J Med Genet. 2001;102:149-52.

Ben-Amitai D, et al. Cutis marmorata telangeictatica congenita and hypospadias: report of 4 cases. J Am Acad Dermatol. 2001;45:131-32.

Amitai DB, et al. Cutis marmorata telangeictatica congenita: clinical findings in 85 patients. Pediatr Dermatol. 2000;17:100-04.

Robertson SP, et al. Macrocephaly-cutis marmorata telangiectatica congenita: report of five cases and review of the literature. Clin Dysmorphol. 2000;9:1-9.

Franceschini P, et al. Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata? Am J Med Genet. 2000;90:265-69.

Gerritsen MJ, et al. Cutis marmorata telangiectatica congenita: a report of 18 cases. Br J Dermatol. 2000;142:366-69.

Devillers AC, et al. Cutis marmorata telangeictatica congenita: clinical features in 35 cases. Arch Dermatol. 1999;135:34-38.

Vogels A, et al. The macrocephaly-cutis marmorata telangiectatica congenita syndrome. Long-term follow-up data in 4 children and adolescents. Genet Couns. 1998;9:245-53.

Carcao M, et al. MRI findings in macrocephaly-cutis marmorata telangiectatica congenita. Am J Med Genet. 1998;76:165-67.

Clayton-Smith J, et al. Macrocephaly with cutis haemangioma and syndactyly-a distinctive overgrowth syndrome. Clin Dysmorphol. 1997;6:291-302.

Moore CA, et al. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet. 1997;70:67-73.

Pendergast SD, et al. Ocular findings in cutis marmorata telangeictatica congenita. Bilateral exudative vitreoretinopathy. Retina. 1997;17:306-09.

Pehr K, Moroz B. Cutis marmorata telangeictatica congenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism. Pediatr Dermatol. 1993;10:6-11.

Mayser P, et al. Cutis marmorata telangeictatica congenita (Van Lohuizen syndrome). Hautarzt. 1992;43:721-23.

Picascia DD. Esterly NB, Cutis marmorata telangeictatica congenita: a report of 22 cases. J Am Acad Dermatol. 1989;20:1098-1104.

Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD. Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? Am J Med Genet. 1988;29:269-76.


Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Macrocephaly-Capillary Malformation: MCM. Entry No: 602501. Last Edited December 22, 2011. Available at: Accessed March 14, 2012.

Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Cutis Marmorata Telangiectatic Congenita; CMTC. Entry No: 219250. Last Edited September 4, 2009. Available at: Accessed March 14, 2012.


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