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Cutis marmorata telangiectatica congenita.

C Kennedy1, A P Oranje, K Keizer

  • 1Department of Dermato-Venereology, University Hospital Rotterdam, The Netherlands.

International Journal of Dermatology
|April 1, 1992
PubMed
Summary

This study details ten sporadic cases of cutis marmorata telangiectatica congenita (CMTC), finding a low incidence of associated anomalies. Researchers suggest a potential genetic hypothesis for CMTC causation.

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Area of Science:

  • Dermatology
  • Medical Genetics
  • Pediatrics

Background:

  • Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular malformation.
  • Understanding the genetic basis and associated anomalies of CMTC is crucial for diagnosis and management.

Purpose of the Study:

  • To describe clinical features and associated anomalies in a cohort of ten sporadic CMTC cases.
  • To explore potential pathogenetic mechanisms for CMTC.

Main Methods:

  • Retrospective case series analysis of ten patients diagnosed with CMTC.
  • Clinical data collection including physical examination, medical history, and follow-up information.

Main Results:

  • Ten sporadic cases of CMTC were identified.

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  • Low incidence of associated anomalies observed; three patients had specific skin findings (cutaneous atrophy, nevus telangiectaticus).
  • Two patients presented with limb discrepancies (shorter, thinner leg) and two with transient neurological symptoms.

    • Conclusions:

    • CMTC cases in this series were predominantly sporadic.
    • The study identified limited associated anomalies, suggesting CMTC may present with varied manifestations.
    • Authors propose applying Happle's lethal gene hypothesis to CMTC, similar to Klippel-Trenaunay and Sturge-Weber syndromes.