Cutis Marmorata Telangiectatica Congenita Clinical Presentation

Updated: May 14, 2018
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Presentation

History

Cutis marmorata telangiectatica congenita (CMTC) is generally present at birth or shortly thereafter. The reticulated mottling frequently becomes more prominent in a cold environment (eg, physiologic cutis marmorata), but it tends not to disappear with rewarming. Note the images below.

The reticulated mottling is observed on the skin o The reticulated mottling is observed on the skin of the back of a newborn.
Similar lesions are seen on the abdominal skin of Similar lesions are seen on the abdominal skin of the patient in Image 2.
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Physical Examination

Cutis marmorata telangiectatica congenita (CMTC) principally affects the skin. Cutis marmorata telangiectatica congenita tends to occur more frequently on the lower limbs, although the upper extremities, trunk, and face may also be involved. When located on the trunk, cutis marmorata telangiectatica congenita tends to have a midline distribution.

The primary lesion is characterized by pinkish blue, reticular, and patchy skin changes. Lesions may be localized or generalized. Localized lesions were observed in 60% of the patients in one series, but this percentage varies. Persistent cutis marmorata, telengiectasia, and phlebectasia may occasionally be associated with cutaneous atrophy and ulceration of the involved skin. [12, 13]

The incidence of abnormalities associated with cutis marmorata telangiectatica congenita is high, varying from 18.8-89%, as follows:

  • Way et al, 1974 - 50% [14]

  • South and Jacobs, 1978 - 89% [15]

  • Picascia and Esterly, 1989 - 27% [16]

  • Pehr and Moroz, 1993 - 68% [17]

  • Devillers et al, 1999 - 80% [18]

  • Amitai et al, 2000 - 18.8% [19]

Skin atrophy and ulcerations, capillary malformations (ie, nevus flammeus), capillary and cavernous hemangioma, atrophy or hypertrophy of the affected extremity, macrocephaly (macrocephaly cutis marmorata telangiectatica congenita syndrome), and glaucoma are frequently associated with cutis marmorata telangiectatica congenita.

Other conditions may be associated with cutis marmorata telangiectatica congenita.

Common associations include the following:

Uncommon associations include the following:

  • Mental retardation

  • Psychomotor retardation

  • Aplasia cutis congenita

  • Cleft palate

Rare associations include the following:

  • Patent ductus arteriosus and double aortic arc

  • Congenital hypothyroidism

  • Distal limb defects and scoliosis

  • Mild growth deficiency

  • Stenosis of a deep femoral artery

  • Congenital generalized fibromatosis

  • Disseminated blue nevi

  • Syndactyly

  • High arched palate

  • Micrognathia

  • Nevus anemicus

  • Neonatal ascites

  • Hypoplasia of the right iliac and femoral veins [25]

  • Café au lait spots

  • Mongolian spots [26, 27]

  • Hypospadias

  • Multicystic renal disease

  • Elevated maternal hCG level

  • Hemophagocytic lymphohistiocytosis [28]

  • Iliac artery stenosis [29]

  • Airway obstruction: Airway obstruction due to unilateral hypertrophy of vocal cords, in addition to brainstem compromise, may produce apnea in patients with signs and symptoms of cervicomedullary cord compression. [30]

  • Phakomatosis pigmentovascularis with port-wine stain, dermal melanocytosis, and cutis marmorata telangiectatica congenita [27, 31]

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Complications

Hemangiomas and lymphangiomas have been seen in association with cutis marmorata telangiectatica congenita. Diffuse dermal angiomatosis may also arise in cutis marmorata telangiectatica congenita. [32] The former is a variant of reactive angioendotheliomatosis, often evident clinically as painful, violaceous, nonhealing erosions or ulcers. It is characterized histologically by diffuse endothelial cell hyperplasia within the reticular dermis rather than the intravascular proliferation typical of reactive angiomatosis.

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