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Klippel-Trenaunay syndrome

S A Berry1, C Peterson, W Mize

  • 1Department of Pediatrics, University of Minnesota, Minneapolis 55455, USA. berry002@tc.umn.edu

American Journal of Medical Genetics
|October 22, 1998
PubMed
Summary

Klippel-Trenaunay (KT) syndrome involves capillary malformations, abnormal veins, and limb asymmetry. This study of 49 patients suggests sporadic occurrence, possibly due to somatic mutations affecting blood vessel development.

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Area of Science:

  • Vascular Medicine
  • Genetics
  • Pediatric Medicine

Background:

  • Klippel-Trenaunay (KT) syndrome presents with a triad of cutaneous capillary malformation, venous anomalies, and limb overgrowth.
  • Mixed vascular malformations involving capillary, venous, arterial, and lymphatic systems can coexist.
  • KT syndrome diagnosis requires careful evaluation of these cardinal features.

Purpose of the Study:

  • To characterize the clinical presentation and distribution of anomalies in a cohort of patients with Klippel-Trenaunay syndrome.
  • To evaluate the diagnostic utility of noninvasive imaging techniques in KT syndrome.
  • To explore the etiology of KT syndrome, considering sporadic occurrence and potential genetic factors.

Main Methods:

  • Retrospective review of 79 patients with vascular anomalies, identifying 49 with KT syndrome.

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  • Detailed analysis of affected body regions (limbs, trunk, head) and laterality.
  • Noninvasive imaging including color duplex ultrasonography, MRI, lymphoscintigraphy, and radiographs.

    • Main Results:

    • 49 patients diagnosed with KT syndrome, with limb involvement being most common (46 legs, 23 arms).
    • Limb girth increase was frequent (40 patients), but significant length discrepancy was less common (17 patients).
    • All identified cases of KT syndrome occurred sporadically.

    Conclusions:

    • Klippel-Trenaunay syndrome presents with diverse vascular anomalies and limb asymmetry.
    • Noninvasive imaging strategies are effective for diagnosis and management planning.
    • The sporadic occurrence suggests a potential role for somatic mutations in early development, impacting vasculogenesis and angiogenesis.