Última actualización:
July 10, 2015
Años publicados: 1994, 2002, 2005, 2009, 2012, 2015
NORD gratefully acknowledges 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 congenital (present at birth)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 marmoratatelangiectatica 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 (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.
Treatment
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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For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
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
RareConnect offers a safe patient-hosted online community for patients and caregivers affected by this rare disease. For more information, visit www.rareconnect.org.
TEXTBOOKS
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.
JOURNAL ARTICLES
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. SeminCutan 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 AcadDermatol. 2001;45:131-32.
Amitai DB, et al. Cutis marmorata telangeictatica congenita: clinical findings in 85 patients. PediatrDermatol. 2000;17:100-04.
Robertson SP, et al. Macrocephaly-cutis marmorata telangiectatica congenita: report of five cases and review of the literature. ClinDysmorphol. 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. ClinDysmorphol. 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 marmoratatelangeictaticacongenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism. PediatrDermatol. 1993;10:6-11.
Mayser P, et al. Cutis marmoratatelangeictaticacongenita (Van Lohuizen syndrome). Hautarzt. 1992;43:721-23.
Picascia DD. Esterly NB, Cutis marmoratatelangeictaticacongenita: a report of 22 cases. J Am AcadDermatol. 1989;20:1098-1104.
Toriello HV, Graff RG, Florentine MF, Lacina S, Moore WD. Scalp and limb defects with cutis marmoratatelangiectaticacongenita: Adams-Oliver syndrome? Am J Med Genet. 1988;29:269-76.
INTERNET
Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Macrocephaly-Capillary Malformation: MCM. Entry No: 602501. Last Edited 11/21/2012. Available at: https://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:https://omim.org/entry/219250 Accessed May 21, 2015.
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