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Venous malformation in Adult
See also in: External and Internal Eye
Other Resources UpToDate PubMed

Venous malformation in Adult

See also in: External and Internal Eye
Contributors: Vivian Wong MD, PhD, Nnenna Agim MD, FAAD, Susan Burgin MD
Other Resources UpToDate PubMed


Venous malformations (VMs) represent the most common congenital vascular malformations and are estimated to occur in 1-5 of every 10 000 births. They are the third most common congenital vascular lesion to occur in the head / neck region, with infantile hemangiomas and lymphatic malformations being more common.

VMs can involve the skin, subcutaneous tissue, and mucosa. They range in presentation from asymptomatic venous varicosities to exophytic deforming tumors involving the skin, internal organs, and bones, with mass effect on adjacent structures. Visible cutaneous changes may belie much deeper involvement in any given area. VMs can be segmental or localized and may occur in isolation or with other congenital or progressive changes. When additional findings coexist, a vascular overgrowth or venous malformation syndrome may be present. VMs have been associated with CLOVES, capillary malformation-arteriovenous malformation, Maffucci, Klippel-Trenaunay, Parkes-Weber, Sturge-Weber, Gorham-Stout, Bockenheimer, Proteus, and Bannayan-Riley-Ruvalcaba syndromes, as well as familial cerebral venous malformations.

VMs arise from mutations that alter endothelial cell morphogenesis. This leads to disorganized angiogenesis and nonfunctional atypical venous networks. Autosomal dominant inheritance has been reported, but about 95% are presumed to be sporadic. Syndromic forms are more likely to have a defined inheritance pattern. TEK mutations, which are found in blue rubber bleb nevus syndrome, have been identified in 40% of sporadic VMs.

Swelling, pain, and functional impairment, such as limited joint motion, are commonly associated symptoms. Pain may worsen initially with physical activity, but swelling may improve. VMs may be complicated by chronic localized intravascular coagulopathy at any age.


Q27.9 – Congenital malformation of peripheral vascular system, unspecified

234124003 – Venous malformation

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Differential Diagnosis & Pitfalls

  • Kasabach-Merritt syndrome with low platelets and intravascular coagulation
  • Tufted angioma
  • Congenital hemangioma
  • Infantile hemangioma, deep variant
  • Diffuse congenital genuine phlebectasia of Bockenheimer
  • Lymphatic malformation
  • Cutaneous arteriovenous malformation – a thrill or bruit may be present on auscultation
  • Deep vein thrombosis
  • Klippel-Trenaunay syndrome
  • Blue rubber bleb nevus syndrome
  • Familial cutaneous and mucosal venous malformation syndrome
  • Sinus pericranii

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Last Reviewed:09/30/2021
Last Updated:06/15/2022
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Venous malformation in Adult
See also in: External and Internal Eye
A medical illustration showing key findings of Venous malformation : Arm, Blue color, Face, Leg, Present at birth, Purple color, Trunk, Unilateral distribution, Vascular plaque
Clinical image of Venous malformation - imageId=6344838. Click to open in gallery.  caption: 'An ill-defined faintly blue tumor with overlying superficial, red vascular papules on the thigh.'
An ill-defined faintly blue tumor with overlying superficial, red vascular papules on the thigh.
Copyright © 2024 VisualDx®. All rights reserved.