Table 2.

TEK-Related Venous Malformations: Comparison of Phenotypes by Select Features

FeatureUnifocal (Isolated) VMMSVMVMCMBRBN Syndrome
VM
  • Slow-flow blood vascular lesion
  • Light-to-dark skin discoloration overlying soft, often compressible mass that develops primarily in cutaneous, subcutaneous, or mucosal tissues
Light-to-dark skin discoloration overlying soft, often non-compressible mass that develops primarily in cutaneous, subcutaneous, or mucosal tissues
  • Nipple-like bluish nodules w/rubbery consistency
  • Tend to aggregate & become hyperkeratotic w/time
Proportion of VM >90% of VMRare; estimated to be ~1% of VM
Uni-/multifocal UnifocalMultifocal
Location
  • 40% on extremities
  • 40% on cervicofacial area
  • 20% on trunk
  • All over body
  • Skin & oral mucosa
  • Rarely on palms & soles
  • All over body
  • Skin & oral mucosa
  • Rarely on palms & soles
  • All over body
  • Skin & mucosa
  • Predilection for palms & soles
  • Typically, large dominant lesion present at birth
Size Highly variable<5 cm<2 cm
GI lesions May or may not occurRare
  • Multiple VM located in small intestines (pathognomonic)
  • Can cause bleeding & chronic anemia
  • Complications incl intussusception, volvulus, & intestinal infarction
Coagulopathy Approximately 40% of affected persons (depending on size & extent of lesion[s])Common (≥80% of affected persons)

BRBN = blue rubber bleb nevus; GI = gastrointestinal; MSVM = multifocal sporadic venous malformations; VM = venous malformation; VMCM = multiple cutaneous and mucosal venous malformations

1.

For other causes of venous malformations, see Differential Diagnosis.

From: TEK-Related Venous Malformations

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