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Cutis Marmorata Telangiectatica Congenita


National Organization for Rare Disorders, Inc.

Synonyms

  • CMTC
  • Van Lohuizen Syndrome
  • Congenital Generalized Phlebectasia

Disorder Subdivisions

  • None

Related Disorders List

Information on the following diseases can be found in the Related Disorders section of this report:

  • Cutis Marmorata
  • Klippel-Trenaunay syndrome
  • Sturge-Weber syndrome
  • Adams-Oliver syndrome

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 (livedo reticularis telangiectases). 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. A distinct subdivision of CMTC was formerly identified as macrocephaly-CMTC. However, in M-CMTC, the skin abnormalities are actually capillary malformations and they of CMTC occur in association with an abnormally large head (macrocephaly) and the potential development of cerebral and neurological abnormalities. Virtually all cases of CMTC occur randomly for no apparent reason (sporadically). It is thought that CMTC represents a form of genetic mosaicism.

Symptoms

In most cases, the symptoms of CMTC are present at birth (congenital). Affected infants are characterized by 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 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.

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-CMTC. Rarely, Adams-Oliver and Proteus(-like) syndrome underlie the vascular abnormalities.

Causes

The exact cause of CMTC is not known. Most cases occur randomly, for no apparent reason (spontaneously). Researchers believe that several factors (e.g., a virus) may contribute to the development of the disorder (multifactorial). 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. More than 70 cases of M-CMTC have been reported in the medical literature.

Related Disorders

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, a rare disorder that is present at birth (congenital), is characterized by abnormal benign growths on the skin (cutaneous) consisting of masses of blood vessels (hemangiomas), excessive growth (hypertrophy) of the soft tissue and bone of a leg and/or arm (limb), and varicose veins. In individuals with the disorder, such hypertrophy typically affects one side of the body (hemihypertrophy). In many cases, hemangiomas may consist of distinctive purplish-reddish birthmarks ("port wine stain" or nevus flammeus) on certain areas of the skin. The symptoms and findings associated with the disorder may 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.)

Sturge-Weber syndrome is a rare inherited disorder characterized by the presence of a port wine colored birthmark (angioma) on the facial area and intracranial abnormalities that are present at birth (congenital). Affected infants may also have an enlarged head (macrocephaly). Generalized seizures and additional neurological symptoms usually occur between one and two years of age. Vascular lesions (telangiectasias and angiomas) in the brain usually involve the occipital or parieto-occipital regions. Glaucoma may be present in the eye located on the same side of the face where the port wine stain occurs. This eye may also be enlarged. The iris may remain blue, even though the other eye may change to another color as the infant matures. Sight in half of the visual field may be defective or absent in the affected eye. (For more information on this disorder, choose "Sturge Weber" as your search term in the Rare Disease Database.)

SWS and KTS are probably manifestations of the same underlying genetic defect.


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. Some cases of Adams-Oliver syndrome occur randomly as the result of a spontaneous genetic change (i.e., new mutation). 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.)

Standard Therapies

Diagnosis
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 can be associated with early development of superficial venous insufficiency which may require treatment.

Infants with a diagnosis of CMTC and associated abnormalities should be referred to a specialist centre and, if indicated, 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 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
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

References

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:219250; Last Update:3/13/01. Entry No:602501; Last Update:8/23/01.

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

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

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

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.

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

JOURNAL ARTICLES
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.

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.

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

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.

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

Resources

Nevus Network
The Congenital Nevus Support Group
P.O. Box 305
West Salem, OH 44287
USA
Tel: (419)853-4525
Fax: (405)377-3403
Email: info@nevusnetwork.org
Internet: http://www.nevusnetwork.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

Cobalamin Network
P.O. Box 174
Thetford Center, VT 05075-0174
USA
Tel: (802)785-4029
Email: SueBee18@valley.net

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

Vascular Birthmarks Foundation
P.O. Box 106
Latham, NY 12110
USA
Tel: (877)823-4646
Email: hvbf@aol.com
Internet: http://www.birthmark.org

CMTC
Bitterschoten 15
3831 PC
Leusden, Intl
The Netherlands
Tel: +31-33-494 66 71
Email: president@cmtc.nl
Internet: http://www.cmtc.nl

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)519-3194
Fax: (240)632-9164
Tel: (888)205-2311
TDD: (888)205-3223
Email: gardinfo@nih.gov
Internet: http://www.genome.gov/10000409

National Organization of Vascular Anomalies
PO Box 0358
Findlay, OH 45840-0358
Email: Khall@mail.novanews.org
Internet: http://www.novanews.org

HemiHypertrophy Support
4581 Magnolia Dr.
Suffolk, VA 23435
Tel: (757)615-3686
Email: administrator@hemisupport.com
Internet: http://www.hemisupport.com

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). CIGNA members can access the complete report by logging into myCIGNA.com. For non-CIGNA members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  2/17/2009
Copyright  1994, 2002, 2005, 2009 National Organization for Rare Disorders, Inc.



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