Port-wine stain

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at November 20, 2016
StartDiseasesPort-wine stain

Port-wine stains which are also known as nevus flammeus are discolorations of skin. They are almost always apparent at birth, though some can develop later in life. Port-wine stains are usually red or purple in color, and they come in a variety of sizes and shapes. While prevention is usually not possible, treatment is available for most cases.

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Definition & Facts

Port-wine stains are red or purple marks that appear on the skin. When they occur, they are most often present at birth though they can sometimes show up during early childhood as well. Most often seen on the face or neck, these marks can appear anywhere on the body. Males and females are equally affected, and they may be hereditary or sporadic.

Approximately three out of every 1,000 babies are born with a port-wine stain. An affected individual usually has the port-wine stain throughout his or her life. It is possible that the marks could be part of a larger syndrome such as Sturge-Weber syndrome or Klippel-Trenaunay syndrome.

Symptoms & Complaints

Port-wine stains can vary greatly in size, shape, and color. They can be very small or large. They can also be any shape though they are not usually geometric but rather irregular shapes.

Additionally, the color of a port-wine stain can range from a light red to a dark purple. Typically the younger the person is, the lighter the color of the mark. As a person ages, the skin can change too. The discolored area is usually smooth and flat on a baby or child, but it can become thickened and lumpy as he ages.

The majority of children with port-wine stains do not have any other symptoms. However, a few may develop eye problems or brain disorders. If a stain is near the eye or on the eyelid, the individual will need to be checked by an eye specialist throughout their lives to check the eye for any problems. Brain disorders, such as epilepsy, may occur in addition to other problems that are part of a larger syndrome. These are very rare.

Causes

Port-wine stains are caused by localized blood vessel problems. The capillary vessels that supply blood to the stain area remain dilated instead of narrowing into tiny vessels. This causes excess blood in the area which accounts for the discoloration.

The causes of these blood vessel problems can be complicated. There are a couple of possible reasons for this increased dilation. Random genetic mutations may be at fault, causing the vessels not to contract to their normal size. The nerve supply to the area may also be damaged or faulty, and thus the vessels are not signaled to narrow as they should.

Although port-wine stains are typically birthmarks, those that occur later in life may have a few different causes as well. For example, excessive exposure to ultraviolet light and a history of smoking may be two contributing factors to the development of port-wine stains that appear later in life.

Moreover, hormone changes can be a cause. More rarely, infections, certain brain tumors, and conditions affecting the blood vessels may also be reasons why people develop port-wine stains.

Diagnosis & Tests

The diagnosis of most port-wine stains is done based solely on its appearance. A healthcare provider can almost always diagnose the birthmark simply by its location and coloring. However, there are some instances where further diagnostic testing may be required to confirm a port-wine stain and to rule out other conditions.

For example, a skin biopsy may be done to confirm that the stain is simply a port-wine stain and not a tumor. In other cases, a magnetic resonance imaging (MRI) scan of the brain or an X-ray of the skull may be needed in order to rule out the possibility of a more serious issue such as Sturge-Weber syndrome.

Also, if the port-wine stain is in a baby’s mouth, a doctor may check the throat with a scope to assure that there is no swelling nor growths that may hinder swallowing or breathing. Finally, if the port-wine stain is located near the eye or on the eyelid, an ophthalmologist may be required. She can do a complete eye examination and check the intraocular pressure of the eye. Any swelling of the birthmark could cause vision problems, glaucoma, or blindness.

Treatment & Therapy

Although port-wine stains do not usually cause any physical pain, they can take an emotional toll on a child, especially if the stain is large, dark, and/or on the face. Dermatologists and plastic surgeons can often help to treat these stains with special lasers called pulsed-dye lasers. The lasers use pulses of intense light to help treat the stain. This often starts in infancy, but it can work on older children too. The younger the patient, however, the easier the mark is to treat.

While the laser treatment does not hurt too much, it may be uncomfortable for kids, so they are either given local anesthesia or general anesthesia to help ease the discomfort. After the treatment, there may be some swelling or bruising for the first week, but this should gradually subside. In most cases, several treatments are needed over time.

Some types of port-wine stains need to be treated with different kinds of lasers or with surgery, particularly if the skin is thick or bumpy. Additionally, some people have opted for other treatments such as freezing, tattooing, or radiation. These treatments are not usually as effective as the laser treatments; while laser treatments do not work for every individual, they are more likely to be successful with the least risk to the patient.

Prevention & Prophylaxis

Port-wine stains that are present at birth are not preventable. Port-wine stains that appear later in life may be preventable in some cases.

To the extent that port-wine stains may be caused by excessive ultraviolet light, they can be prevented by avoiding ultraviolet light and using proper precautions when exposed to the sun.

Adopting a healthy overall lifestyle with regular exercise and healthy diet is the best approach one can take to avoid port-wine stains.