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AUTHOR AND EDITOR INFORMATION

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

Coauthor(s): Anna Zalewska, MD, PhD, Assistant Professor, Adjunct Professor, Department of Dermatology and Venereology, Medical University of Lodz, Poland; Meltem Onder, MD, Professor of Dermatology, Director of Contact Dermatitis and Behcet's Disease Clinic, Gazi University School of Medicine; Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School

Editors: Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, New York Medical College-Metropolitan Hospital; Private Practice; Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center; Julia R Nunley, MD, Professor, Program Director, Dermatology Residency, Department of Dermatology, Virginia Commonwealth University Medical Center; Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital; 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

Author and Editor Disclosure

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

INTRODUCTION

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Background

Cutis marmorata telangiectatica congenita (CMTC) is an uncommonly reported, sporadic, congenital cutaneous disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. Ulceration of the involved skin and cutaneous atrophy is described in a number of cases. In addition, CMTC is often reported in association with a variety of other congenital anomalies, including but not limited to undergrowth or overgrowth of an involved extremity.

Pathophysiology

The pathogenesis of CMTC remains unclear, and the cause may be multifactorial. Most cases occur sporadically, although rare cases occur in families. Cases of CMTC are reported in association with fetal ascites1 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 CMTC to be an autosomal dominant genetic disorder with incomplete penetrance.

CMTC 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 CMTC may be included in a group of vascular diseases that are associated with other developmental defects of the mesodermal system during embryonic life.

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 al2 reported the first case of CMTC in the United States. Since then, many cases associated with a wide variety of abnormalities have been described.

International

CMTC 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 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.

Sex

  • A review of the literature reveals controversy regarding the possibility of a sex-related predominance. 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

CMTC 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).


CLINICAL

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History

  • 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.

Physical

  • CMTC principally affects the skin.
    • CMTC 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, CMTC 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.
  • The incidence of abnormalities associated with CMTC is high, varying from 18.8-89%, as follows:
    • Way et al, 1974 - 50%3
    • South and Jacobs, 1978 - 89%4
    • Picascia and Esterly, 1989 - 27%5
    • Pehr and Moroz, 1993 - 68%6
    • Devillers et al, 1999 - 80%7
    • Amitai et al, 2000 - 18.8%8
  • 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 CMTC. Other conditions associated with CMTC may include the following:
    • Common
      • Body asymmetry (hypoplasia and hypertrophy of the affected limbs)
      • Vascular anomalies (capillary and cavernous hemangiomas, nevus flammeus, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, Adams Oliver syndrome)
      • Glaucoma and retinal detachment
      • Cutaneous atrophy
      • Neurologic anomalies
    • Uncommon
      • Mental retardation
      • Psychomotor retardation
      • Aplasia cutis congenita
      • Cleft palate
    • Rare
      • 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
      • Café au lait spots
      • Mongolian spots9
      • Hypospadias
      • Multicystic renal disease
      • Elevated maternal hCG level
      • Hemophagocytic lymphohistiocytosis
      • Iliac artery stenosis

Causes

  • The risk factors and prognostic factors of the disorder are still unknown.
  • The cause may be multifactorial.
  • Although the disorder most commonly has a sporadic occurrence, some authors suggest that CMTC may be inherited as an autosomal dominant trait with low penetrance.
  • The role of external factors, including viral infections, is suggested because several cases of CMTC occurred in the same geographic area.
  • In theory, some factors can influence vascular development during intrauterine growth.


DIFFERENTIALS

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Capillary Malformation
Klippel-Trenaunay-Weber Syndrome
Neonatal Lupus Erythematosus
Nevus Anemicus

Other Problems to be Considered

Physiologic cutis marmorata
Livedo reticularis associated with collagen-vascular diseases
Nevus flammeus
Diffuse phlebectasia


WORKUP

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Lab Studies

  • Physical examination helps in diagnosing CMTC.

Imaging Studies

  • Imaging studies are indicated only for the evaluation of other suspected congenital anomalies.
  • Such studies are specifically performed according to the clinician's suspicion.

Histologic Findings

A skin biopsy is not necessary because the histologic findings are nonspecific and nondiagnostic. Microscopic findings include dilated capillaries in the deeper dermis, swollen endothelial cells, and sometimes dilated veins or venous lakes.


TREATMENT

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Medical Care

No treatment is needed unless associated anomalies (eg, glaucoma, hypospadias, syndactyly, multicystic renal disease, cardiac malformation, limb asymmetry) require treatment.

Consultations

  • Consultation with an orthopedist and/or neurosurgeon may be necessary for evaluation of associated anomalies (eg, limb or cranial defects).
  • Consultation with an ophthalmologist may be necessary because glaucoma has been reported in association with CMTC. However, all of the patients with glaucoma had periocular skin changes around the affected eye. Therefore, ophthalmologic evaluation is probably only indicated in this setting.


FOLLOW-UP

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Prognosis

  • The prognosis is good.
  • Skin lesions usually improve, especially during the patient's first 2 years of life. This phenomenon is attributed to skin maturation.


MISCELLANEOUS

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Special Concerns

  • Exploration of the associated anomalies


MULTIMEDIA

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Media file 1:  Reticular skin lesions are observed on the right arm of a 7-year-old girl.
Click to see larger pictureClick to see detailView Full Size Image
Media type:  Photo

Media file 2:  The reticulated mottling is observed on the skin of the back of a newborn.
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Media type:  Photo

Media file 3:  Similar lesions are seen on the abdominal skin of the patient in Image 2.
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Media type:  Photo


REFERENCES

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Cutis Marmorata Telangiectatica Congenita excerpt

Article Last Updated: Mar 16, 2007