What are vascular anomalies?

Vascular anomalies are birthmarks or growths made up of blood vessels that have developed incorrectly. These growths can cause functional or cosmetic problems and may be composed of arteries, veins, capillaries, lymph vessels, or any combination of these.

While many vascular anomalies are present at birth, others do not appear until later in a child’s life, even into the teenage years. Vascular anomalies are common, with some vascular tumors such as hemangiomas occurring in 1 out of every 10 full term births.

Types of vascular anomalies

Vascular anomalies are grouped into two main categories: vascular tumors and vascular malformations. Although these lesions often look very similar, they are unique conditions that require different treatment methods.

Vascular tumors

There are many types of vascular tumors. The majority are benign. By far the most common type of vascular tumors are infantile hemangiomas, which typically grow for 6 to 12 months and then begin to shrink (regress).

Types of vascular tumors include:

• Hemangiomas (infantile and congenital)
• Pyogenic granulomas (lobular capillary hemangiomas)
• Glomangiomas (glomus cell tumor)
• Kaposi’s sarcoma
• Angiosarcoma
• Hemangioendotheliomas (Kaposiform hemangioendothelioma)

Vascular malformations

Vascular malformations are present at birth, though they may not be obvious for several years. They are often named according to the type of blood vessel that is most affected.

Types of vascular malformations include:

• Capillary vascular malformations (port-wine stains)
• Arterial malformations (abnormal arteries)
• Venous malformations (abnormal veins)
• Arteriovenous malformations (abnormal arteries and veins)
• Lymphatic malformations (abnormal lymphatics, or lymph vessels, which can lead to enlarged water-filled cysts and swelling)
• Spider angiomas (arteries that show on the surface of the skin with a central red dot and outer branches)
• Angiofibromas (pink, raised skin bumps seen in patients with tuberous sclerosis, formerly called adenoma sebaceum)
• Complex combined malformations (sometimes accompanying a genetic syndrome), including:
  • Sturge-Weber syndrome (port wine stain in the upper third of the face, with eye and central nervous system involvement)
  • Klippel-Trenaunay syndrome (abnormal capillaries, veins, and lymphatics with overgrowth of the involved area of the body)
  • Parkes-Weber syndrome (port wine stain with arteriovenous malformation and overgrowth of the involved area of the body)
  • Hereditary hemorrhagic telangiectasia (may have nose and GI bleeding from small dilated vessels)
  • CLOVES syndrome (a collection of conditions that may include congenital lipomatous overgrowth, vascular malformations, epidermal moles, and spinal abnormalities)
  • Proteus syndrome (vascular malformations and overgrowth of body parts)

Patients that present with vascular malformations will receive multidisciplinary care to ensure coordinated treatment for all of their symptoms.

Causes

Vascular anomalies are caused by disorders in vascular development. These disorders during development lead to an increased number of abnormally twisted and enlarged blood vessels collecting in a single location.

The majority of vascular anomalies occur without any family history and are not inherited. There are some rare forms, though, that are inherited. Genetic defects have been identified in several of these conditions. If a genetic condition is suspected, your child’s evaluation may include consultation with a geneticist and genetic testing.

Signs and symptoms

The signs and symptoms of a vascular anomaly will depend on the type of anomaly your child has.

Vascular anomalies can cause:

• Pain
• Swelling
• Bleeding
• Infection
• Obstruction
• Ulceration
• Misshapenness or overgrowth of the involved region, particularly in the extremities, hands and feet

Depending on their location, they can also be associated with abnormal growth of the affected part of the body.

Vascular malformations are present throughout a person’s lifetime and will slowly grow in proportion to your child’s growth. Hormonal changes during puberty may cause these lesions to grow. They may also get larger due to trauma or infection. 

Superficial vascular malformations — those that occur on the surface of the skin — are often pink, red, blue or purple. Deeper malformations may not show any color change to the skin. In both cases, swelling of the affected area may be visible.

Vascular malformations can cause pain in sensitive areas such as the feet and hands, which can impair walking and hand movement. Malformations may also cause swelling and enlargement of the arms, legs, and genitals. Facial malformations can cause swelling or distortion of the face, or tongue swelling and problems with speaking.