Vascular malformations

Vascular malformations

Overview

Vascular birthmarks are red or blue lesions on or immediately beneath the skin’s surface. There are two main types: vascular malformations and hemangiomas. 

Vascular malformations are abnormal, tangled connections among blood vessels or lymphatic vessels. They are unusual congenital conditions (existing before or at birth), not hereditary (inherited), and most are isolated problems, though there are rare familial syndromes. 

They do not grow like a tumor, as do hemangiomas, but they do increase in size as you grow, and do not disappear with age or involute (get smaller) spontaneously, as hemangiomas do. Some are associated with organ abnormalities. Still other malformations may not appear until much later in life, with a triggering event such an upper respiratory infection bringing them to attention.

Vascular birthmarks are usually on the face or neck, resulting in cosmetic disfigurement. Two types involve lesions in other areas, which are associated with life-threatening complications. Others may be associated with serious genetic defects. Many newborns have birthmarks; in 90 percent of them, the marks disappear by the first birthday, but 10 percent have a significant birthmark requiring treatment.

The most common birthmark, the hemangioma (venular malformation) is composed of stem cells. It is a benign tumor that is congenital but not genetically inherited. Hemangiomas occur 80 percent of the time in the head and neck. Unfortunately, if located in a vital organ or structure and of any significant size, their presence may have serious consequences. 

There are two types of hemangiomas: focal and segmental. Focal hemangiomas involve only one area of the face; segmental lesions involve two or more. Both are present at birth, grow rapidly in size in the first month or two and then stop growing by the age of six or seven months. Most hemangiomas begin to involute (disappear) by age two to three: however, a significant number enlarge for a longer period in infancy, with many not undergoing involution until the age of 12. In 30 percent of children, segmental hemangiomas are associated with possibly life-threatening abnormalities in other areas. Hemangiomas of the eyelid may be a threat to vision. Despite involution, all leave significant scarring or residual tumors with attendant cosmetic issues.

 

Symptoms

AVMs can cause pain, a mass, bleeding, growth disturbances and, rarely, generalized cardiovascular problems such as heart failure. Segmental hemangiomas may cause visual loss, airway obstruction, failure to thrive, cardiac failure or ulceration. 

Types

Vascular malformations are divided into major and minor types:

Major Types:

  • Venular malformations (port-wine stains)
  • Venous malformations 
  • Arteriovenous malformations (AVMs) 
  • Lymphatic malformations 

Minor Types:

  • Arteriovenous capillary malformation syndrome (Parkes Weber syndrome)
  • Venous capillary lymphatic malformation (Klippel–Trenaunay–Weber syndrome)

Diagnosis

A physician may conduct clinical evaluations and order imaging studies such as an MRI or CT scan. Occasionally a skin biopsy is necessary. According to the birthmark’s location and symptoms, an intraocular pressure test or X-ray of the skull may be necessary.

 

Treatments

  • Vascular birthmarks

Since these may appear similar but have different causes, and some may be associated with potentially serious lesions in other areas, your child should be seen by an expert in diagnosis and treatment of these lesions. Some lesions are associated with genetic syndromes that are significantly disabling, so the sooner they are detected, the more that may be done to help the child. These syndromes require genetic testing. For most, treatment should begin in the first two to three months of life. The sooner a vascular birthmark is treated, the easier it is to take care of and the better the cosmetic outcome.

  • Hemangiomas

Treatments for hemangiomas consist of medical management, laser therapy and surgical excision. In many children the hemangioma will involute spontaneously, with treatment then directed at removal of residual mass and scarred areas. Medical management uses three drugs: steroids, vincristine and propranolol. All three have advantages and disadvantages and have some therapeutic effect while not being completely curative:

  • Steroids or prednisone — The primary disadvantage is that children should not take steroids for long periods, due to serious side effects on the immune and endocrine systems.

  • Vincristine — This is a chemotherapeutic drug that requires placement of a catheter in a large vein in the neck or other location with weekly infusions of the medication. It is usually reserved for patients who have hemangiomas in the liver or those who have lesions that are not responsive to steroids.

  • Propranolol — This drug is effective in treating both types of hemangiomas during the growth and involutional phases. Its only side effect is a possible drop in blood sugar if the child misses a meal or a feeding. 

Techniques such as laser therapies, minimally invasive robotic surgeries and embolization have revolutionized the way these diseases and disorders are treated. These methods are safe, result in less scarring and quicker recovery times and have improved outcomes. Most AVMs can be treated using minimally invasive endovascular techniques including:

  • Laser ablation for treatment of malformations, port-wine stains and superficial hemangiomas

  • Radiation therapy

  • Surgery for AVM patients who have eyelid involvement, ulceration or airway obstruction, and for lymphatic malformations

  • Sclerotherapy for venous malformations

  • Embolization, including angiographic and chemoembolization – for AVMs, lymphatic malformations, uterine fibroids, liver tumors, hepatobiliary procedures

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