Cutis Marmorata and Lymphedema

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Cutis Marmorata and Lymphedema

Postby patoco » Sun Jun 11, 2006 9:22 pm

Cutis Marmorata and Lymphedema

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Cutis Marmorata and Lymphedema

Van Lohuizen Syndrome

Cutis Marmorata Telangiectatica Congenita (CMTC)

Cutis marmorata telangiectatica congenita (CMTC) is a vascular disorder that presents as a purplish/red pattern on the skin. The pattern of discoloration is marble-like and while it can effect the arms, trunk and face, it usually occurs on the legs.

The condition often has numerous side effects as well. One of these is lymphedema.

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Cutis Marmorata Telangiectatica Congenita

What is cutis marmorata telangiectatica congenita (CMTC)?

Cutis marmorata telangiectatica congenita (CMTC) is a rare condition that mainly affects the blood vessels of the skin. It is usually seen at birth or soon after.

CMTC looks like a marble-like pattern on the surface of the skin, which is called mottling. This purplish pattern is similar to the fishnet-looking blotches seen in young infants when they are cold. In children with CMTC, the marbling is more severe and always visible.

The marble-like skin pattern may be limited to a certain part of the body (localized). Or, the pattern can spread over a large area of the body (generalized). Cutis marmorata telangiectatica congenita can affect the arms, trunk and face, but it usually occurs on the legs. The marble-like pattern can get larger with vigorous movement, crying or when skin is exposed to the cold.

Sometimes CMTC occurs with different degrees of enlarged blood vessels just beneath the skin's surface. This is due to the thinning of the skin or skin ulcers.

What causes CMTC?

The exact cause of cutis marmorata telangiectatica congenita is not known. The disorder is not usually seen in more than one family member.

Some researchers think CMTC may be caused by a specific type of genetic condition. Others feel that the building blocks affecting the development of blood vessels in the womb are involved. Cutis marmorata telangiectatica congenita is most likely not caused by any medication taken or activity performed during pregnancy.

Is CMTC associated with other conditions?

Yes, CMTC is associated with other conditions. Related abnormalities are found in up to 50 percent of patients with CMTC. These abnormalities include vascular conditions such as port-wine stains (oddly shaped patches that look like birth marks) and hemangiomas (a non-cancerous, blood-filled growth), as well as a large number of other conditions, including:

Body asymmetry
Problems with teeth
Glaucoma
Delayed psychomotor development

How is CMTC diagnosed?

Physicians can recognize CMTC by careful examination and observation of specific clinical criteria. Most important, they can tell if a patient has cutis marmorata telangiectatica congenita or some other very different vascular condition.

Diagnostic imaging tests are advised only when other abnormalities are suspected. These tests include:

X-rays
Computerized tomography (CT)
Magnetic resonance imaging (MRI)

What is the natural course of CMTC?

Most patients with CMTC show gradual, but definite improvement with age. The biggest change occurs during the first year of life. Fading of the mottled skin pattern then slows down, but continues as the skin matures and thickens.

How is CMTC managed?

Since the marble-like skin pattern fades on its own, no special treatment for CMTC is needed.

Sometimes, however, ulcerations become infected. When this happens, antibiotics may be required.

Due to the incidence of other related conditions, careful evaluation and follow-up is important, and infants sometimes require consultations with other pediatric specialists.

Written 7/03
Rev. 12/04

http://www.cincinnatichildrens.org/heal ... e/ctmc.htm

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Cutis marmorata

What is cutis marmorata?

Cutis marmorata is a condition where the skin has a pinkish blue mottled or marbled appearance when subjected to cold temperatures. It occurs in about 50% of children and is typically seen throughout infancy. Adults may also be affected. Rewarming usually restores the skin to its normal appearance.

Cutis marmorata telangiectatica congenita (CMTC) is a distinct vascular disorder that typically presents at birth or shortly thereafter. It has the same appearance as cutis marmorata and is more prominent in cold climates. However, improvement does not always occur with rewarming.

How do you get it and who is at risk?

The mottled appearance is caused by superficial small blood vessels in the skin dilating and contracting at the same time. Dilation creates the red colour of the skin whilst contraction produces a pale appearance. This phenomenon is most pronounced when the skin is cooled. Reasons why this happens is not fully understood but the following factors may be involved:

Genetics
External factors, including viral infection
Defect in embryonic skin development

Although CMTC is a very rare disorder, 50% of these patients have one or more other associated congenital skin conditions. These include:

Haemangiomas
Capillary vascular malformations
Glaucoma
Skin atrophy (thinning) and ulceration

What treatments are available?

There is no treatment for CMTC as it is generally a benign condition that improves with age. Skin lesions often improve within the first 2 years of life as the skin matures.

Associated conditions such as glaucoma and other anomalies may require treatment.

Related information

References:

Book: Textbook of Dermatology. Ed Rook A, Wilkinson DS, Ebling FJB, Champion RH, Burton JL. Fourth edition. Blackwell Scientific Publications.

On DermNet:

Vascular skin conditions

http://dermnetnz.org/vascular/index.html

Livedo reticularis

http://dermnetnz.org/vascular/livedo-vascularis.html

Other web sites:

Cutis Marmorata Telangiectatica Congenita: from emedicine dermatology, the online textbook

Books:

See the DermNet NZ bookstore

http://dermnetnz.org/books/

DermNet NZ

http://dermnetnz.org/vascular/cutis-marmorata.html

Author: Vanessa Ngan, staff writer

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Cutis marmorata telangiectatica congenita

Cutis marmorata telangiectatica congenita: clinical features in 35 cases.

Devillers AC, de Waard-van der Spek FB, Oranje AP.
Department of Dermatovenereology, University Hospital Rotterdam, The Netherlands.

OBJECTIVE:

To evaluate the distribution of skin lesions, clinical features, and associated abnormalities in children with cutis marmorata telangiectatica congenita at onset and during follow-up.

DESIGN:

Retrospective survey of the available medical data with an average follow-up of 1 year 5 months (range, 0-7 years).

SETTING:

Pediatric Dermatology Unit (Department of Dermatovenereology) of the Sophia Children's Hospital in Rotterdam, the Netherlands.

PATIENTS:

The diagnosis of cutis marmorata telangiectatica congenita was clinically established in 35 patients between July 1988 and February 1997. In 33 cases, the typical mottled, blue-violet pattern was present from birth and was readily visible at rest. In 2 cases, the skin lesions initially appeared less reticulated, mimicking a capillary malformation.

RESULTS:

The skin lesions were almost generalized in 4 children (11%), whereas they were more localized in the other 31 children (89%). Associated anomalies, usually minor and sometimes questionable, were noted in 80% of the patients. Most patients showed a definite improvement of their mottled vascular skin lesions within 2 years. The lesions had totally disappeared, or only faded residual lesions remained.

CONCLUSIONS:

We believe that cutis marmorata telangiectatica congenita is a relatively mild condition. The prognosis is usually good, with minor associated anomalies. Improvement of the mottled, vascular pattern is usually observed within 2 years. We recommend careful clinical examination of all patients to exclude any associated anomalies. Patients should be referred to a neurologist or an ophthalmologist only if symptoms are present or if vascular lesions are present around the eyes.

PMID: 9923778 [PubMed - indexed for MEDLINE]

http://www.ncbi.nlm.nih.gov/entrez/quer ... s=99120653

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Cutis marmorata telangiectatica congenita (CMTC)

Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular anomaly that virtually always occurs sporadically and in a patchy, quadrant, unilateral or otherwise segmental manifestation. This would suggest mosaicism of a postzygotic mutation. Some authors, however, described CMTC occurring in several members of a family. This paradox may be explained by the concept of paradominant inheritance. Heterozygous individuals carrying a 'paradominant' mutation are, as a rule, phenotypically normal. The mutation can therefore be transmitted unperceived through many generations. The trait only becomes manifest when a postzygotic mutation occurring during early embryogenesis gives rise to loss of heterozygosity and forms a mosaic population of cells being either homozygous or hemizygous for the mutation. This concept may explain the occasional familial occurrence of CMTC.

Copyright © 2001 S. Karger AG, Basel

http://content.karger.com/ProdukteDB/pr ... ?Doi=51750

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Features Listed For CUTIS MARMORATA TELANGIECTASIA CONGENITA

Anal atresia/stenosis
Asymmetric arms/fore_limbs
Asymmetric legs/hindlimbs
Capillary haemangioma
Cleft palate
Cutaneous pustules/ulcers
Glaucoma
Hemi-hypertrophy
Hypertrophy of leg/hindlimb
Hypertrophy of arm/fore_limb
Lipomata
Macrocephaly
Patchy aplasia/hypoplasia of skin
Prominent vessels of skin
Recto-vaginal fistula
Reduction deformity of arms/fore_limbs, no digits
Reduction deformity of legs/hindlimbs, no digits
Spina bifida occulta
Syndactyly 2-3 of toes
Telangiectasia/angiokeratomata of skin
Thin skin/generalized skin atrophy

http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?395

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Cutis Marmorata Telangiectatica Congenita

Last Updated: February 9, 2005 Rate this Article

Synonyms and related keywords: CMTC, congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis, Van Lohuizen syndrome

Author: Emel Calikoglu, MD, Head, Assistant Professor, Department of Dermatology, Fatih University Medical School, Turkey
Coauthor(s): Anna Zalewska, MD, PhD, Adjunct, Assistant Professor, Department of Dermatology and Venereology, Medical University of Lodz, Poland; Meltem Onder, MD, Associate Professor, Department of Dermatology, Gazi University Medical School, Turkey; Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School

http://www.emedicine.com/derm/topic793.htm

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Cutis Marmorata Telangiectatica Congenita (CMTC) - Van Lohuizen syndrome

http://www.cmtc.nl/HTML/eng_start.php

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Diagnostic Images

http://www.cmtc.nl/HTML/whatiscmtc_photogallery.php

Google

http://images.google.com/images?hl=en&ie=UTF-8&q=Cutis Marmorata&spell=1

Yahoo

http://images.search.yahoo.com/search/images?p=Cutis Marmorata &sm=Yahoo%21 Search&fr=FP-tab-img-t&toggle=1&ei=UTF-8<b>Cutis Marmorata Telangiectasia Congenita http://my.webmd.com/hw/health_guide_atoz/nord1000.asp

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Additional Links

Birth defects research for children www.birthdefects.org

Canadian Organization for Rare Disorders (CORD) www.cord.ca br / br / CMTC & Macrocephaly pages.ivillage.com/mandiclairesmom

Dermatological atlas www.dermatlas.com

Digital Hospital Nederland www.ziekenhuis.nl

European Organisation for Rare Disorders www.eurordis.org

Genetic Alliance (USA) www.geneticalliance.org

Glaucoma Organisation www.glaucoomvereniging.nl

National Organization for Rare Disorders (NORD) www.rarediseases.org

National parents to parents network (USA) www.netnet.net/mums

Skin Federation (Dutch) www.huidfederatie.nl

Child and Hospital www.kinderziekenhuis.nl

Dutch Patients/Consumers Federation (NP/CF) www.spin.nl

Nederlandse Sturge-Weber Vereniging www.nswv.nl

Proteus Syndrome www.proteus-syndrome.org.uk

Stichting Klippel-Trenaunay Nederland www.sktn.nl

Vascular Birthmarks Foundation USA www.birthmark.org

Vascular Birthmarks Foundation Europe www.vbfeurope.org

Union of cooperating Parents & Patient organisations (VSOP) www.vsop.nl
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