Cutis Marmorata Telangiectatica Congenita

Updated: Jun 06, 2017
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Overview

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. 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. [3] However, macrocephaly-cutis marmorata telangiectatica congenita is a recently recognized syndrome. [4] 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 a Reticular 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. Its 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 [5] and an elevated maternal beta-human chorionic gonadotropin (beta-hCG) level, although a direct relationship has not been established. ARL6IP6 was documented to be mutated in a patient with syndromic cutis marmorata telangiectatica congenita in a consanguineous Arabian family. [6]

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. [7] A novel missense mutation in DLL4 was described in a sporadic case of Adams-Oliver syndrome of aplasia cutis congenita, terminal transverse limb defects, and cutis marmorata with vascular anomalies such as congenital heart defects. [8]

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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 [9] 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.

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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Prognosis

The prognosis for cutis marmorata telangiectatica congenita (CMTC) is good. Skin lesions usually improve, especially during the patient's first 2 years of life. In one of the series, lesions improved in 46% of the patients during 3-year follow-up. This phenomenon is attributed to skin maturation.

Approximately 50% of patients have one or more other congenital abnormalities. Macrocephaly cutis marmorata telangiectatica congenita may improve in adolescence and later life. [10]  Morbidity from the associated malformations may range from mild to significant.

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