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Cutis Marmorata Telangiectatica Congenita

Reference work entry

In 1922, van Lohuizen1 first described cutis marmorata telangiectatica congenita (CMTC) as a pattern of reticulate erythema and telangiectasia, skin atrophy and ⁄or ulceration.

Genetics/Basic Defects

  1. 1.
    Pathogenesis
    1. a.

      Unknown

       
    2. b.

      Most cases are sporadic

       
     
  2. 2.
    Hypothesis
    1. a.

      Environmental factors

       
    2. b.

      Multifactorial cause

       
    3. c.

      A nerve conduction defect (Bormann et al. 2001)

       
    4. d.

      A lethal gene surviving by mosaicism suggested by segmental distribution often with a sharp midline separation (Rogers and Poyzer 1982)

       
    5. e.
      Autosomal dominant inheritance with low or variable penetrance
      1. i.

        An affected parent showing more limited involvement than his offspring (Kurczynski 1982)

         
      2. ii.

        Two siblings with one having CMTC alone and the other showing associated anomalies (hypertension and acrocyanosis) (Andreev and Pramatarov 1979)

         
       
     

Clinical Features

  1. 1.
    Onset (Garzon and Schweiger 2004)
    1. a.

      Congenital: common

       
    2. b.

      Later onset (Way et al. 1974)

       
     
  2. 2.
    Reticulated vascular pattern
    1. a.

      Finely...

Keywords

Down Syndrome Septate Uterus Capillary Malformation Ureterovaginal Fistula Neonatal Lupus Erythematosus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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© Springer Science+Business Media, LLC 2012

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