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Cutis Marmorata Telangiectatica Congenita Clinical Presentation

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
 
Updated: Jun 22, 2016
 

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

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.[10, 11]

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

  • Way et al, 1974 - 50% [12]
  • South and Jacobs, 1978 - 89% [13]
  • Picascia and Esterly, 1989 - 27% [14]
  • Pehr and Moroz, 1993 - 68% [15]
  • Devillers et al, 1999 - 80% [16]
  • Amitai et al, 2000 - 18.8% [17]

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 [23]
  • Café au lait spots
  • Mongolian spots [24, 25]
  • Hypospadias
  • Multicystic renal disease
  • Elevated maternal hCG level
  • Hemophagocytic lymphohistiocytosis [26]
  • Iliac artery stenosis [27]
  • 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. [28]
  • Phakomatosis pigmentovascularis with port-wine stain, dermal melanocytosis, and cutis marmorata telangiectatica congenita [29, 25]
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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.

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Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, 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.

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

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, International Society of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, 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, Women's Dermatologic Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: American Board of Dermatology<br/>Co-Editor for the text Dermatological Manifestations of Kidney Disease .

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

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

Disclosure: Nothing to disclose.

Additional Contributors

Noah S Scheinfeld, JD, MD, FAAD Assistant Clinical Professor, Department of Dermatology, Weil Cornell Medical College; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Assistant Attending Dermatologist, New York Presbyterian Hospital; Assistant Attending Dermatologist, Lenox Hill Hospital, North Shore-LIJ Health System; Private Practice

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

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Abbvie<br/>Received income in an amount equal to or greater than $250 from: Optigenex<br/>Received salary from Optigenex for employment.

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. 2009 Apr. 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). 2008 Dec. 69(6):557-64. [Medline].

  3. Ilhan O, Ozer EA, Ozdemir SA, Akbay S, Memur S, Kanar B, et al. Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report. Arch Argent Pediatr. 2016 Apr 1. 114 (2):e111-e113. [Medline].

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

  5. 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. 1997 Feb. 136(2):267-71. [Medline].

  6. Abumansour IS, Hijazi H, Alazmi A, Alzahrani F, Bashiri FA, Hassan H, et al. ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. Hum Genet. 2015 May 10. [Medline].

  7. Redondo P, Aguado L, Martínez-Cuesta A. Diagnosis and management of extensive vascular malformations of the lower limb: part II. Systemic repercussions [corrected], diagnosis, and treatment. J Am Acad Dermatol. 2011 Nov. 65(5):909-23; quiz 924. [Medline].

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

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

  10. Chatterjee R, Dey S. Cutis marmorata telangiectatica congenita with skin ulcerations in a new born. Indian J Dermatol. 2009. 54(4):375-7. [Medline]. [Full Text].

  11. Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J. 2014 Jan. 5(1):80-2. [Medline]. [Full Text].

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

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

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

  15. 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. 1993 Mar. 10(1):6-11. [Medline].

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

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

  18. 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. 2006 Apr. 23(3):197-200. [Medline].

  19. Iftikhar N, Ahmad Ghumman FI, Janjua SA, Ejaz A, Butt UA. Adams-oliver syndrome. J Coll Physicians Surg Pak. 2014 May. 24 Suppl 2:S76-7. [Medline].

  20. 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. 2007 Jan. 224(1):66-9. [Medline].

  21. 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. 2004 Jul-Sep. 47(3):261-5. [Medline].

  22. 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].

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

  24. 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. 2006 Mar. 20(3):308-10. [Medline].

  25. Du G, Zhang X, Zhang T. Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. JAAD Case Rep. 2016 Jan. 2 (1):28-30. [Medline].

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

  27. 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. 2005 Jul. 40(7):e9-12. [Medline].

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

  29. Shimizu N, Nakagawa K, Taguchi M, Okabayashi A, Kishida M, Kinoshita R, et al. Unusual case of phakomatosis pigmentovascularis in a Japanese female infant associated with three phakomatoses: Port-wine stain, dermal melanocytosis and cutis marmorata telangiectatica congenita. J Dermatol. 2015 Jun 24. [Medline].

  30. Levy R, Lam JM. Cutis marmorata telangiectatica congenita: a mimicker of a common disorder. CMAJ. 2011 Mar 8. 183(4):E249-51. [Medline]. [Full Text].

  31. Martínez-Glez V, Romanelli V, Mori MA, et al. Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria. Am J Med Genet A. 2010 Dec. 152A(12):3101-6. [Medline].

  32. Trevisan F, Cunha PR, Pinto CA, Cattete FG. Cutaneous neonatal lupus with cutis marmorata telangiectatica congenita-like lesions. An Bras Dermatol. 2013 May-Jun. 88(3):428-31. [Medline].

  33. Soohoo JR, McCourt EA, Lenahan DS, Oliver SC. Fluorescein angiogram findings in a case of cutis marmorata telangiectatica congenita. Ophthalmic Surg Lasers Imaging Retina. 2013 Jul 1. 44(4):398-400. [Medline].

  34. Lagan M, Brennan R, McLoone E. Pediatric retinal detachment in cutis aplasia and cutis marmorata telangiectasia. Eur J Ophthalmol. 2012 Mar 12. [Medline].

  35. Memarzadeh A, Pengas I, Syed S, Eastwood DM. Limb length discrepancy in cutis marmorata telangiectatica congenita: an audit of assessment and management in a multidisciplinary setting. Br J Dermatol. 2014 Mar. 170(3):681-6. [Medline].

  36. Halbesleben JJ, Cleveland MG, Stone MS. Diffuse dermal angiomatosis arising in cutis marmorata telangiectatica congenita. Arch Dermatol. 2010 Nov. 146(11):1311-3. [Medline].

 
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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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