Cutis Marmorata Telangiectatica Congenita 

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD   more...
 
Updated: May 6, 2011
 

Background

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, sporadic, congenital cutaneous vascular anomaly evident as persistent cutis marmorata, telangiectasia, and phlebectasia.[1, 2] Cutis marmorata telangiectatica congenita is most commonly localized in distribution, evident over the lower limbs. Ulceration of the involved skin and cutaneous atrophy is described in a number of cases. In addition, cutis marmorata telangiectatica congenita is often reported in association with a variety of other congenital anomalies, including but not limited to undergrowth or overgrowth of an involved extremity.

Body asymmetry is the most common anomaly associated; other associations. The body asymmetry is manifest as hypertrophy or hypotrophy of the affected limb; other possibly coincidental malformations include congenital glaucoma, syndactyly, renal hypoplasia, and Kartagener syndrome. However, macrocephaly-cutis marmorata telangiectatica congenita is a recently recognized syndrome.[3] Children with cutis marmorata telangiectatica congenita are at risk of neurologic abnormalities and life-threatening complications. Note the image below.

Reticular skin lesions are observed on the right aReticular skin lesions are observed on the right arm of a 7-year-old girl.
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Pathophysiology

The pathogenesis of cutis marmorata telangiectatica congenita (CMTC) remains unclear, and the cause may be multifactorial. Most cases occur sporadically, although rare cases occur in families. Cases of cutis marmorata telangiectatica congenita are reported in association with fetal ascites[4] and an elevated maternal beta-human chorionic gonadotropin (beta-hCG) level, although a direct relationship has not been established.

Some authors suggest that the Happle lethal gene hypothesis (ie, the lethal dominant gene survives by means of mosaicism) best explains the patchy distribution of the lesions and sporadic occurrence of the disease. Other authors suggest that a possible teratogen is the cause, and yet others consider cutis marmorata telangiectatica congenita to be an autosomal dominant genetic disorder with incomplete penetrance.

Cutis marmorata telangiectatica congenita is described to occur in association with other discrete syndromes such as Sturge-Weber syndrome and Klippel-Trenaunay syndrome. Some have suggested that Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and cutis marmorata telangiectatica congenita may be included in a group of vascular diseases that are associated with other developmental defects of the mesodermal system during embryonic life.

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Epidemiology

Frequency

United States

The frequency of this disorder is not known. It may be more common than reported, because it is usually a benign disorder, and most cases that are reported have an associated malformation. In 1970, Petrozzi et al[5] reported the first case of cutis marmorata telangiectatica congenita in the United States. Since then, many cases associated with a wide variety of abnormalities have been described.

International

Cutis marmorata telangiectatica congenita is a rarely reported skin disorder. However, after its first description by Van Lohuizen in 1922, more than 100 cases have been published worldwide.

Mortality/Morbidity

The prognosis for cutis marmorata telangiectatica congenita (CMTC) is good. However, approximately 50% of patients have one or more other congenital abnormalities.

Skin lesions usually improve, especially during the patient's first 2 years of life. This phenomenon is attributed to maturation of the skin. In one of the series, lesions improved in 46% of the patients during 3-year follow-up. Morbidity from the associated malformations may range from mild to significant.

Race

To the authors' knowledge, a racial predilection is not reported for cutis marmorata telangiectatica congenita.

Sex

A review of the literature reveals controversy regarding the possibility of a sex-related predominance in cutis marmorata telangiectatica congenita. Several series reveal that the disorder affects more female patients than male patients. However, the numbers are small, and the differences are not statistically significant. Reports suggest that male patients may tend to have localized disease.

Age

Cutis marmorata telangiectatica congenita is regarded to be a congenital disorder because the lesions are generally present at birth or shortly thereafter in most cases. However, in some cases, the lesions develop later (3 mo to 2 y after birth).

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Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Anna Zalewska, MD, PhD  Professor of Dermatology and Venereology, Psychodermatology Department, Chair of Clinical Immunology and Microbiology, Medical University of Lodz, Poland

Disclosure: Nothing to disclose.

Meltem Onder, MD  Professor of Dermatology, Director of Contact Dermatitis and Behcet's Disease Clinic, Gazi University School of Medicine

Meltem Onder, MD is a member of the following medical societies: American Academy of Dermatology and International Society of Dermatology

Disclosure: Nothing to disclose.

Emel Erdal, MD  Associate Professor of Dermatology, Mesa Hospital, Turkey

Disclosure: Nothing to disclose.

Specialty Editor Board

Noah S Scheinfeld, MD, JD, FAAD  Assistant Clinical Professor, Department of Dermatology, Columbia University College of Physicians and Surgeons; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, and New York Eye and Ear Infirmary; Private Practice

Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Optigenex Consulting fee Independent contractor

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Julia R Nunley, MD  Professor, Program Director, Dermatology Residency, Department of Dermatology, Virginia Commonwealth University Medical Center

Julia R Nunley, MD is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, American Society of Nephrology, International Society of Nephrology, Medical Dermatology Society, Medical Society of Virginia, National Kidney Foundation, Phi Beta Kappa, and Women's Dermatologic Society

Disclosure: Novartis Grant/research funds Consulting; Biolex Grant/research funds sub-investigator

Glen H Crawford, MD  Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital

Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD  Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

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Reticular skin lesions are observed on the right arm of a 7-year-old girl.
The reticulated mottling is observed on the skin of the back of a newborn.
Similar lesions are seen on the abdominal skin of the patient in Image 2.
 
 
 
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