eMedicine Specialties > Dermatology > Diseases of the Vessels

Cutis Marmorata Telangiectatica Congenita

Author: 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
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; Emel Erdal, MD, Associate Professor of Dermatology, Mesa Hospital, Turkey
Contributor Information and Disclosures

Updated: Nov 13, 2009

Introduction

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.

Reticular skin lesions are observed on the right ...

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

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Reticular skin lesions are observed on the right ...

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


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 ascites4 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.

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 al5 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).

Clinical

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.
The reticulated mottling is observed on the skin ...

The reticulated mottling is observed on the skin of the back of a newborn.

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The reticulated mottling is observed on the skin ...

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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Similar lesions are seen on the abdominal skin of...

Similar lesions are seen on the abdominal skin of the patient in Image 2.


Physical

  • 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.
  • The incidence of abnormalities associated with cutis marmorata telangiectatica congenita is high, varying from 18.8-89%, as follows:
    • Way et al, 1974 - 50%6
    • South and Jacobs, 1978 - 89%7
    • Picascia and Esterly, 1989 - 27%8
    • Pehr and Moroz, 1993 - 68%9
    • Devillers et al, 1999 - 80%10
    • Amitai et al, 2000 - 18.8%11
  • 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 associated with cutis marmorata telangiectatica congenita may include the following:
    • Common
    • 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 veins16
      • Café au lait spots
      • Mongolian spots17
      • Hypospadias
      • Multicystic renal disease
      • Elevated maternal hCG level
      • Hemophagocytic lymphohistiocytosis18
      • Iliac artery stenosis19
      • 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.20

Causes

  • The risk factors and prognostic factors of cutis marmorata telangiectatica congenita (CMTC) are still unknown.
  • The cause may be multifactorial.
  • Although the disorder most commonly has a sporadic occurrence, some authors suggest that cutis marmorata telangiectatica congenita 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 cutis marmorata telangiectatica congenita occurred in the same geographic area.
  • In theory, some factors can influence vascular development during intrauterine growth.

More on Cutis Marmorata Telangiectatica Congenita

Overview: Cutis Marmorata Telangiectatica Congenita
Differential Diagnoses & Workup: Cutis Marmorata Telangiectatica Congenita
Treatment & Medication: Cutis Marmorata Telangiectatica Congenita
Follow-up: Cutis Marmorata Telangiectatica Congenita
Multimedia: Cutis Marmorata Telangiectatica Congenita
References
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References

  1. Kienast AK, Hoeger PH. Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. Clin Exp Dermatol. Apr 2009;34(3):319-23. [Medline].

  2. del Boz Gonzalez J, Serrano Martin MM, Vera Casano A. [Cutis marmorata telangiectatica congenita. Review of 33 cases]. An Pediatr (Barc). Dec 2008;69(6):557-64. [Medline].

  3. Katugampola R, Moss C, Mills C. Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features. J Am Acad Dermatol. Apr 2008;58(4):697-702. [Medline].

  4. Chen CP, Chen HC, Liu FF, et al. Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites. Br J Dermatol. Feb 1997;136(2):267-71. [Medline].

  5. Petrozzi JW, Rahn EK, Mofenson H, Greensher J. Cutis marmorata telangiectatica congenita. Arch Dermatol. Jan 1970;101(1):74-7. [Medline].

  6. Way BH, Herrmann J, Gilbert EF, Johnson SA, Opitz JM. Cutis marmorata telangiectatica congenita. J Cutan Pathol. 1974;1(1):10-25. [Medline].

  7. South DA, Jacobs AH. Cutis marmorata telangiectatica congenita (congenital generalized phlebectasia). J Pediatr. Dec 1978;93(6):944-9. [Medline].

  8. Picascia DD, Esterly NB. Cutis marmorata telangiectatica congenita: report of 22 cases. J Am Acad Dermatol. Jun 1989;20(6):1098-1104. [Medline].

  9. Pehr K, Moroz B. Cutis marmorata telangiectatica congenita: long-term follow-up, review of the literature, and report of a case in conjunction with congenital hypothyroidism. Pediatr Dermatol. Mar 1993;10(1):6-11. [Medline].

  10. Devillers AC, de Waard-van der Spek FB, Oranje AP. Cutis marmorata telangiectatica congenita: clinical features in 35 cases. Arch Dermatol. Jan 1999;135(1):34-8. [Medline].

  11. Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A. Cutis marmorata telangiectatica congenita: clinical findings in 85 patients. Pediatr Dermatol. Mar-Apr 2000;17(2):100-4. [Medline].

  12. Fayol L, Garcia P, Denis D, Philip N, Simeoni U. Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report. Am J Perinatol. Apr 2006;23(3):197-200. [Medline].

  13. Spitzer MS, Szurman P, Rohrbach JM, Aisenbrey S. [Bilateral congenital glaucoma in a child with cutis marmorata telangiectatica congenita: a case report]. Klin Monatsbl Augenheilkd. Jan 2007;224(1):66-9. [Medline].

  14. Akcar N, Adapinar B, Dinleyici C, Durak B, Ozkan IR. A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features. Ann Genet. Jul-Sep 2004;47(3):261-5. [Medline].

  15. Garavelli L, Leask K, Zanacca C, et al. MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. Genet Couns. 2005;16(2):117-28. [Medline].

  16. Morgan JM, Naisby GP, Carmichael AJ. Cutis marmorata telangiectatica congenita with hypoplasia of the right iliac and femoral veins. Br J Dermatol. Jul 1997;137(1):119-22. [Medline].

  17. Torrelo A, Zambrano A, Happle R. Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol. Mar 2006;20(3):308-10. [Medline].

  18. Elahi B, Ramyar A. Hemophagocytic lymphohistiocytosis in a neonate with cutis marmorata telangiectatica congenita. Saudi Med J. Nov 2006;27(11):1751-3. [Medline].

  19. Vogel AM, Paltiel HJ, Kozakewich HP, Burrows PE, Mulliken JB, Fishman SJ. Iliac artery stenosis in a child with cutis marmorata telangiectatica congenita. J Pediatr Surg. Jul 2005;40(7):e9-12. [Medline].

  20. Franklin B, Gasco J, Rangel-Castilla L, Nauta HJ. Apnea and macrocephaly-cutis marmorata telangiectatica congenita. Brain Dev. Oct 2009;31(9):706-9. [Medline].

  21. Canham NL, Holder SE. Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case. Clin Dysmorphol. Oct 2008;17(4):279-81. [Medline].

  22. Anand NK, Pannu MS, Singh P. Cutis marmorata telangiectatica congenita. Indian Pediatr. Feb 2002;39(2):203. [Medline].

  23. Avci S, Calikoglu E, Sayli U. Cutis marmorata telangiectatica congenita: an unusual cause of lower extremity hypoplasia. Turk J Pediatr. Apr-Jun 2001;43(2):159-61. [Medline].

  24. Bhargava P, Kuldeep CM, Mathur NK. Cutis marmorata telangiectatica congenita with multiple congenital anomalies. Further clues for a teratogenic cause. Dermatology. 1998;196(3):368-70. [Medline].

  25. Enjolras O. [Cutis marmorata telangiectatica congenita]. Ann Dermatol Venereol. Feb 2001;128(2):161-6. [Medline].

  26. Fujita M, Darmstadt GL, Dinulos JG. Cutis marmorata telangiectatica congenita with hemangiomatous histopathologic features. J Am Acad Dermatol. Jun 2003;48(6):950-4. [Medline].

  27. Garzon MC, Schweiger E. Cutis marmorata telangiectatica congenita. Semin Cutan Med Surg. Jun 2004;23(2):99-106. [Medline].

  28. Gerritsen MJ, Steijlen PM, Brunner HG, Rieu P. Cutis marmorata telangiectatica congenita: report of 18 cases. Br J Dermatol. Feb 2000;142(2):366-9. [Medline].

  29. Kennedy C, Oranje AP, Keizer K, van den Heuvel MM, Catsman-Berrevoets CE. Cutis marmorata telangiectatica congenita. Int J Dermatol. Apr 1992;31(4):249-52. [Medline].

  30. Krause MH, Bonnekoh B, Weisshaar E, Gollnick H. Coincidence of multiple, disseminated, tardive-eruptive blue nevi with cutis marmorata teleangiectatica congenita. Dermatology. 2000;200(2):134-8. [Medline].

  31. Lapunzina P, Gairi A, Delicado A, et al. Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review. Am J Med Genet A. Sep 15 2004;130A(1):45-51. [Medline].

  32. Mazereeuw-Hautier J, Carel-Caneppele S, Bonafe JL. Cutis marmorata telangiectatica congenita: report of two persistent cases. Pediatr Dermatol. Nov-Dec 2002;19(6):506-9. [Medline].

  33. Mocan H, Ozbay G, Alhan E, Ozoran Y, Ozdemir M. Cutis marmorata telangiectatica congenita. Turk J Pediatr. Oct-Dec 1985;27(4):237-40. [Medline].

  34. Nyberg RH, Uotila J, Kirkinen P, Rosendahl H. Macrocephaly-cutis marmorata telangiectatica congenita syndrome--prenatal signs in ultrasonography. Prenat Diagn. Feb 2005;25(2):129-32. [Medline].

  35. Suarez SM, Grossman ME. Localized cutis marmorata telangiectatica congenita. Pediatr Dermatol. Dec 1991;8(4):329-31. [Medline].

  36. Takenaka H, Yasuno H, Kishimoto S. Localized cutis marmorata telangiectatica congenita on the back of a young man. J Dermatol. Oct 2003;30(10):727-9. [Medline].

  37. Yi G, Oh M. Cutis marmorata telangiectatica congenita: early detection in two premature infants. Pediatr Dermatol. May-Jun 2000;17(3):240-1. [Medline].

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Further Reading

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Keywords

cutis marmorata telangiectatica congenita, CMTC, congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis, Van Lohuizen syndrome

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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, UMDNJ-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, Assistant Professor, Adjunct Professor, Department of Dermatology and Venereology, 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.

Medical Editor

Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, 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

Pharmacy Editor

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.

Managing Editor

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: Johnson and Johnson stock holder dividends; Amgen stock holder dividends; Forest Lab, Inc stock holder dividends; Galaxo Smith Klein stock holder dividends; Covidien stock holder dividends; Novartis Grant/research funds Consulting; Biolex  sub-investigator

CME Editor

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

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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