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Venous Malformations

1. Essentials of Diagnosis

• Usually present at birth, but not detected
• As they become apparent, venous malformations are bluish-purple in color, raised, and easily compressible
• Enlarge when dependent or straining/crying
• Gradually dilate, giving the appearance of a growing lesion

2. Pathogenesis
     Some venous malformations occur in families and are inherited in an autosomal dominant fashion. This occurrence has been mapped to chromosome 9q. Blue rubber bleb nevus syndrome (cutaneous venous malformations associated with gastrointestinal bleeding) may be genetically similar. 

3.Clinical Findings

Craniofacial Venous Malformations

     Craniofacial venous malformations cause symptoms dependent on location. They are almost always a cosmetic problem and thrombosis often makes these lesions painful, impairing basic activities. MRI scanning is the single best modality to evaluate the three-dimensional complexity of a craniofacial venous malformation. Some patients will also have intracranialinvolvement; therefore, the initial study should always include an MRI of the brain. Coagulation studies should also be done as these patients often have low-grade disseminated intravascular coagulopathy; however, this condition typically requires no therapy. 

4.Differential Diagnosis
A venous malformation can be confused with a “deep” hemangioma, although an MRI should easily differentiate between the two. Several syndromes are also included in the differential diagnoses of venous malformations:

• Blue rubber bleb nevus syndrome. The affected patients have multiple cutaneous venous malformations and sometimes also have problematic gastrointestinal bleeding from intestinal lesions.
• Maffucci syndrome. This syndrome of multiple venous malformations associated with enchondromas begins in adolescence. The skeletal lesions often degenerate into malignant tumors.

     Glomangiomas may also be diagnosed as venous malformations. The solitary type of glomangioma is the most common and is characterized by five classic symptoms:

• Severe pain that is seemingly out of proportion to the lesion
• Localized tenderness
• Sensitivity to cold
• The ability to localize pain to a pinpoint location (Love sign)
• Painful symptoms eradicated by a proximal tourniquet (Hildreth sign)

7. Complications
     Rapid growth is usually secondary to hemorrhage and hematoma formation. This can be the result of minimal trauma. These patients mast have a chronic consumptive coagulopathy.  An evaluation of the coagulation perameters and a platelet count is generally warranted.

8. Treatment

• Compression
     If a patient with a venous malformation of the extremities is able to wear a compressive garment, he or she may avoid the long-term morbidity of chronic engorgement. This approach is a primary therapy for extremity lesions, especially simple lesions (eg, benign varicose veins) and lesions of a combined nature (eg, Klippel-Trenaunay syndrome). 

• Sclerotherapy
     Sclerotherapy is the mainstay of treatment for craniofacial lesions and for extensive extremity lesions.  Sclerosants are effective for these lesions because the sclerosant will stay in the lesion or can be made to stay in the lesion with compression of the outflow pathway. Alcohol-based sclerosants are the most commonly used type of sclerosing agent. The sclerosant, in any formulation, is intended to do extensive endothelial damage, induce clotting, and induce eventual vascular obliteration.  Complications of sclerotherapy can occur, most commonly skin necrosis.  Bleomycin can be used instead of alcohol for venous malformations when swelling or necrosis is a concern.

• Laser Therapy
     Laser treatment with the Nd-Yag can be used in selected cases. The goal of laser therapy is also to cause endothelial injury sufficient to lead to coagulation and partial resolution. Percutaneous laser use avoids damaging the skin, so it may be most beneficial at the lip vermilion.  The mucosal component of lesions can also be effectively managed with the Nd-yag laser. This is best done in a non-contact fashion using the laser at 4-6 watts.  Any bleeding encountered during laser work can usually managed with pressure.

• Surgical Measures
     Surgical therapy of these lesions is generally reserved for resection of previously sclerosed areas for improved cosmesis or for lesions that respond poorly to sclerosant therapy. Surgical therapy may also be necessary for dental malocclusion or other secondary problems after primary sclerosant or laser management. 

Berenguer B, Burrows PE, Zurakowski D, Mulliken JB. Sclerotherapy of craniofacial venous malformations: complications and results. Plast Reconstr Surg. 1999;104:111.
[PMID: 10597669] (A review of a large study with detailed descriptions of techniques.) 
Breugem CC, van der Horst CMAM, Hennekam RCM. Progress toward understanding vascular malformations. Plast Reconstr Surg. 2001;107:1509. [PMID: 11335828]
(A detailed review of the current understanding of the pathogenesis of these birth defects.) 
Clymer MA, Fortune DS, Reinisch L, Toriumi DM, Werkhaven JA, Ries WR. Interstitial Nd:YAG photocoagulation for vascular malformations and hemangiomas in childhood. Arch Otolaryngol Head Neck Surg. 1998;124:431. [PMID: 9559692] (A description of the laser technique.)