Cutis marmorata teleangiectatica congenita Q27.8

Authors: Prof. Dr. med. Peter Altmeyer, Alexandros Zarotis

All authors of this article

Last updated on: 29.10.2020

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Synonym(s)

Congenital generalized phlebektasia; cutis teleangiectatica congenita; livedo reticularis congenitalis; Lohuizen syndrome Van; phlebectasia congenita; phlebectasia congenita generalisata; Phlebektasia congenital generalized; van Lohuizen syndrome; Van Lohuizen Syndrome

History
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Van Lohuizen, 1922

Definition
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Congenital, generalized or localized, not infrequently systematized (either formed along the dermatome borders or following the Blaschko lines), reticular drawing of the skin caused by telangiectasia and phlebectasia. Dystrophy (distinction from the passagere livedo reticularis of the newborn) may occur isolated on the skin or be accompanied by mesodermal or neuroectodermal abnormalities. It is not uncommon for atrophy to be detected in the affected skin. Localised atrophy of the subcutaneous fatty tissue, the adjacent musculature and the bony skeleton have also been described (see also Adams-Oliver syndrome).

Manifestation
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From birth, no sex preference.

Localization
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Both localized, unilateral forms (usually segmental or following the Blaschko lines), especially on the extremities; also isolated on the trunk. Rarely is generalized occurrence possible.

Clinical features
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  • Integument: Asymmetrical, also segmentally distributed or systematized marbled skin with telangiectasia and phlebectasia; often strikingly thin, translucent (atrophic) skin with clear vein pattern.
  • More rare are interspersed spider nevi or prominent veins.
  • In adolescents and adults there may be a marked atrophy of fatty tissue and muscles.
  • It is not uncommon for the cutis marmorata teleangiectatica congenita to be combined with a melanocytic nevus or a nevus anemicus (see also pigmentary vascular phacomatosis)
  • Extracutaneous manifestations: genitoanal anomalies, skeletal changes, lipomas, hypercalcemia, glaucoma, malformations such as hemiatrophy, hemihypertrophy of affected extremities, neuromuscular disorders. Occasional expression of a progeria-likeaspect.

Histology
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Increased, partly lacunarly dilated capillaries, venules in the dermis and subcutis.

Diagnosis
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In infants the distinction to the reactive livedo reticularis is important.

Differential diagnosis
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  • Livedo reticularis of the newborn (reactive, capable of regression in the first months of life)
  • Genuine diffuse phlebectasia
  • Acrodermatitis chronica atrophicans (not congenital, DD in adults who present with the symptoms for the first time; lack of serology, histology is diagnostic for chronic Lyme disease)
  • Livedo racemosa (not congenital, histology is diagnostic, further signs of systemic vasculitis); see below livedo syndromes.

Therapy
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Symptomatic.

Progression/forecast
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Complete regression in 50% of cases in the first years of life. Some cases persist or develop progressively (atrophy of the skin, fatty tissue, muscles and/or skeletal system). To what extent these clinically different courses are genetically different is not yet known.

Note(s)
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After Kienast and Höger the following major and minor criteria are listed:

  • Major criteria: Congenital reticular erythema, no veinctasia, no reaction to warming.
  • Minor criteria: healing over 2 years, telangiectasia, nevus flammeus elsewhere, ulceration, atrophy of the skin.

Literature
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  1. Bormann G et al (2001) Cutis marmorata telangiectatica congenita: laser doppler fluxmetry evidence for a functional nervous defect. Pediatric dermatol 18: 110-113
  2. Burger M, Zillikens D, Burg G (1990) Cutis marmorata teleangiectatica congenita. Nude Dermatol 16: 248-249
  3. Fujita M et al (2003) Cutis marmorata telangiectatica congenita with hemangiomatous histopathologic features. J Am Acad Dermatol 48: 950-954
  4. Happle R (2015) Capillary malformations: a classification using specific names for specific skin disorders. J Eur Acad Dermatol Venereol 29: 2295-2305.
  5. Kienast A et al (2009) Cutis marmorata telangiectatica congenita a prospective study of 27 cases an review of literature with proposal of diagnostic criteria. Clin Exp Dermatol 34: 319-323
  6. Krause MH et al (2000) Coincidence of multiple, disseminated, tardive-eruptive blue nevi with cutis marmorata teleangiectatica congenita. Dermatology 200: 134-138
  7. Megarbane A et al (2003) Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder? On J Med Genet 116A: 184-187
  8. Rupprecht R et al (1997) Cutis marmorata teleangiectatica congenita. Important aspects for dermatologic practice. Dermatologist 48: 21-25
  9. Torrelo A et al (2003) Cutis marmorata telangiectatica congenita and extensive mongolian spots: type 5 phacomatosis pigmentovascularis. Br J Dermatol 148: 342-345
  10. Van Lohuizen CHJ (1922) About a rare congenital skin anomaly (Cutis marmorata teleangiectatica congenita). Acta Dermatovenerol 3: 202-211

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Last updated on: 29.10.2020