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TEK-related venous malformations

TEK-related venous malformations
Feature Unifocal (isolated) VM Multifocal sporadic VM VMCM BRBN syndrome
ISSVA classification Common VM Familial VM cutaneo-mucosal BRBN (Bean) syndrome
Molecular etiology Somatic (mosaic or acquired) pathogenic variant Somatic pathogenic variant (acquired early in embryogenesis) + second mosaic (acquired) pathogenic variant Germline (inherited) + somatic (acquired) pathogenic variant Somatic (acquired) pathogenic variant + second somatic (acquired) pathogenic variant
Clinical features
  • Slow-flow blood vascular lesion
  • Light to dark skin discoloration overlying a soft, often compressible mass that develops primarily in cutaneous, subcutaneous, or mucosal tissues
  • Light to dark skin discoloration overlying a soft, often noncompressible mass that develops primarily in cutaneous, subcutaneous, or mucosal tissues
  • Nipple-like, bluish nodules with a rubbery consistency
  • Tend to aggregate and become hyperkeratotic with time
Proportion of all VMs >90% Rare (estimated to be approximately 1%)
Location
  • 40% on the extremities
  • 40% in the cervicofacial area
  • 20% on the trunk
  • All over the body
  • Skin and oral mucosa
  • Rare on palms and soles
  • All over the body
  • Skin and oral mucosa
  • Rare on palms and soles
  • All over the body
  • Skin and mucosa
  • Predilection for the palms and soles
  • Typically, a large dominant lesion is present at birth
Size Highly variable <5 cm <5 cm <2 cm
Gastrointestinal lesions
  • Gastrointestinal lesions may or may not occur
  • Rare
  • Multiple VMs located in the small intestines (pathognomonic)
  • Can cause bleeding and chronic anemia
  • Complications include intussusception, volvulus, and intestinal infarction
Coagulopathy Approximately 40% (depending on the size and extent of the lesion[s]) Common (≥80%) Common (>80%)
BRBN: blue rubber bleb nevus; ISSVA: International Society for the Study of Vascular Anomalies; VM: venous malformation; VMCM: cutaneomucosal venous malformation.
Adapted with permission from: Seront E, Boon LM, Vikkula M. TEK-Related Venous Malformations. 2008 Sep 18 [Updated 2023 Mar 2]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1967/ (Accessed on February 23, 2024).
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