Introduction
History of the Procedure
The history of vascular birthmarks and anomalies is marked by misconceptions, confusing nomenclature, and folklore extending centuries into the past.1 Birthmarks were believed to be secondary to "maternal impressions." The unborn child could be imprinted with the mother's past experiences, fears, emotions, or objects of desire. Mothers were therefore to blame for the "nevus maternus" or mother's mark. These beliefs continue to exist in many cultures around the world.
The past 2 decades have seen great advances in understanding of the pathophysiology, classification, nomenclature, and treatment of all vascular lesions.2,3 In that vein, avoid using synonyms, as they have confused the diagnosis, classification, and management of these vascular tumors. Use the appropriate terminology instead, as advocated with passion by Dr. Mulliken.4
Problem
Venous malformations are always present at birth. They may manifest clinically in infancy, childhood, or adulthood. Depending on their location, they may remain asymptomatic throughout life.
Frequency
Venous malformations are the most common of all vascular anomalies. Overall incidence of venous malformations is reported in 1-4% of the population. No predilection exists for either sex.
Etiology
Of venous malformations, 100% are present at birth, although not all are clinically apparent. Venous malformations are developmental errors composed of dysmorphic channels lined by flattened endothelium exhibiting slow turnover. They are usually singular and solitary isolated events but may occur in multiple areas. If they are present in multiple areas, take a family history, because autosomal dominant transmission has been described for a subtype of venous malformation termed multiple glomangiomas. In addition, at least one mutation for venous malformations has been identified in a gene that codes for an endothelial receptor on chromosome 9p.5
Patients with Turner syndrome may have venous malformations of the intestine and feet. Another rare dominant form is represented by the familial cutaneous-mucosal venous malformation. Cerebral cavernous venous malformations could also be familial.
A better understanding of the molecular mishaps that lead to vascular malformations, such as deficient tyrosine kinase receptors, may lead to new therapeutic interventions.6 Breugem and colleagues have written a thorough overview of the molecular basis of the development of vascular malformations with a discussion of the clinical implications of this new knowledge.2
Pathophysiology
Venous malformations usually manifest by childhood or early adulthood. They grow commensurately with the developing child. Unlike hemangiomas, they do not regress. They are by definition "slow-flow" lesions and sometimes are not obvious at birth. They can expand in response to trauma, following incomplete surgical resection,7 or in altered hormonal states (pregnancy, puberty, steroid use). They also may expand following thrombosis or in sepsis.
The following cellular characteristics are important to remember:
- Flat endothelium, slow turnover
- Normal mast cell count
- Dysplastic walls
- Thin basement membranes
- No expression of vascular endothelial growth factor (VEGF) or basic fibroblast growth factor (bFGF)
- Low urinary bFGF
Presentation
Venous malformations present in various ways, from a vague blue patch to a soft blue mass. They are easily compressible and usually swell in the dependent position or when venous pressure increases (ie, when a child cries). They may be relatively localized or quite extensive within an anatomic region. Venous malformations typically involve the skin of the face, limbs, or trunk but also are found in the internal viscera and bones. They have also been identified in skeletal muscle.8
Episodic thromboses commonly occur in venous malformations. These are low-flow lesions. Phleboliths, secondary to phlebothrombosis, have been observed in patients as young as 2 years. They might be recognizable with plain radiography.
Indications
The most common indication for medical or surgical treatment of a venous malformation is pain. Pain is likely secondary to thrombosis of the malformation, but depends on the size and location of the lesion. Discomfort and stiffness, particularly in the morning, are associated with many larger and deep cutaneous or intramuscular malformations. Intraoral venous malformations can bleed, distort speech or dentition, or obstruct the airway. Venous malformation involving the GI tract or internal viscera can bleed, requiring intervention. Finally, treatment of venous malformations may be indicated to improve appearance or function.
Symptoms associated with venous malformations and indications for intervention vary with the organ system involved. A 3-cm venous malformation of the thigh may be asymptomatic, while the same size intracranial lesion may thrombose and lead to swelling and a life-threatening mass effect requiring emergency intervention.
Relevant Anatomy
Venous malformations represent vascular developmental errors and can occur anywhere. Their management becomes increasingly complex as they involve structures with significant neurovascular function.
Contraindications
Treatment of venous malformations, particularly surgical resection, is often greatly complicated by their deeper involvement with critical neurovascular structures. This is particularly true in the head and neck, intracranial, and extremity malformations. Surgery is often contraindicated if risks associated with the resection outweigh the presumed improvement in appearance or function that may be derived from surgery.
More on Vascular, Venous Malformations |
 Overview: Vascular, Venous Malformations |
| Workup: Vascular, Venous Malformations |
| Treatment: Vascular, Venous Malformations |
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| References |
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References
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Mulliken JB, Glowacki J. Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg. Mar 1982;69(3):412-22. [Medline].
Dubois J, Garel L. Imaging and therapeutic approach of hemangiomas and vascular malformations in the pediatric age group. Pediatr Radiol. Dec 1999;29(12):879-93. [Medline].
Boon LM, Mulliken JB, Vikkula M, et al. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Genet. Sep 1994;3(9):1583-7. [Medline].
Vikkula M, Boon LM, Carraway KL, et al. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell. Dec 27 1996;87(7):1181-90. [Medline].
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Berenguer B, Burrows PE, Zurakowski D, Mulliken JB. Sclerotherapy of craniofacial venous malformations: complications and results. Plast Reconstr Surg. Jul 1999;104(1):1-11; discussion 12-5. [Medline].
Enjolras O, Mulliken JB. Vascular tumors and vascular malformations (new issues). Adv Dermatol. 1997;13:375-423. [Medline].
Fishman SJ, Burrows PE, Leichtner AM, Mulliken JB. Gastrointestinal manifestations of vascular anomalies in childhood: varied etiologies require multiple therapeutic modalities. J Pediatr Surg. Jul 1998;33(7):1163-7. [Medline].
Morgan RF, Horowitz JH, Wanebo HJ, Edgerton MT. Surgical management of vascular malformations of the head and neck. Am J Surg. Oct 1986;152(4):424-9. [Medline].
Pryor J, Setton A, Berenstein A. Venous anomalies and associated lesions. Neurosurg Clin N Am. Jul 1999;10(3):519-25. [Medline].
Upton J, Coombs CJ, Mulliken JB, et al. Vascular malformations of the upper limb: a review of 270 patients. J Hand Surg [Am]. Sep 1999;24(5):1019-35. [Medline].
Zhang L, Lin X, Wang W, et al. Circulating level of vascular endothelial growth factor in differentiating hemangioma from vascular malformation patients. Plast Reconstr Surg. Jul 2005;116(1):200-4. [Medline].
Further Reading
Keywords
venous malformation, vascular malformation, vascular venous malformation, cavernous malformation, VM, vascular birthmark, port wine stain, strawberry hemangioma, vascular birthmark, birthmark, venous thrombosis, thrombosis venous, vascular anomaly, nevus maternus, mother’s mark, turner syndrome, Turner syndrome, cerebral cavernous VM, cavernous venous malformation, venous anomaly
