|55 Kenosia Avenue
Danbury, CT 06810
Toll Free: 1.800.999.6673
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
Copyright 1994, 2002, 2005, 2009, 2012
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
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
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., neurological abnormalities).
Leusdan, 3831 PC The Netherlands
Phone #: 313-349-46671
800 #: N/A
Home page: http://www.cmtc.nl
P.O. Box 174
Thetford Center, VT 05075-0174 USA
Phone #: 802-785-4029
800 #: --
Home page: N/A
PO Box 8126
Gaithersburg, MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
Home page: http://rarediseases.info.nih.gov/GARD/
4581 Magnolia Dr.
Suffolk, VA 23435
Phone #: 757-615-3686
800 #: N/A
Home page: http://www.hemisupport.com
1275 Mamaroneck Avenue
White Plains, NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
Home page: http://www.marchofdimes.com
PO Box 38216
Greensboro, NC 27438-8216
Phone #: N/A
800 #: N/A
Home page: http://www.novanews.org
PO Box 305
West Salem, NC 44287 USA
Phone #: 419-853-4525
800 #: --
Home page: http://www.nevusnetwork.org/
One AMS Circle
Bethesda, MD 20892-3675 USA
Phone #: 301-495-4484
800 #: 877-226-4267
Home page: http://www.niams.nih.gov/
1825 K Street NW, Suite 1200
Washington, DC 20006
Phone #: 202-534-3700
800 #: 800-433-5255
Home page: http://www.thearc.org
P.O. Box 106
Latham, NY 12110 USA
Phone #: N/A
800 #: 877-823-4646
Home page: http://www.birthmark.org
1075 S. Yukon Street, Suite 320
Lakewood, CO 80226
Phone #: 303-989-0500
800 #: 888-833-4463
Home page: http://www.venousdiseasecoalition.org
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: http://www.ncbi.nlm.nih.gov/omim/. 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: http://www.ncbi.nlm.nih.gov/omim/. Accessed March 14, 2012.
Report last updated: 2012/03/15 00:00:00 GMT+0