A port-wine stain or nevus flammeus is almost always a birthmark. It is caused
by a vascular anomaly. Port-wine stains ordinarily persist
throughout life. The area of skin affected grows in proportion to general
growth. Port-wine stains occur most often on the face but can appear
anywhere on the body, particularly on the neck and upper trunk. Early stains
are usually flat and pink in appearance. As the child matures, the color may
deepen to a dark red or purplish color. In adulthood, thickening of the lesion
or the development of small lumps may occur. They are called port wine for
their reddish color. Port-wine stains may be part of a
syndrome such as Sturge–Weber syndrome or Klippel–Trénaunay–Weber syndrome.
Types Nevus flammeus may be divided as
follows: Nevus flammeus nuchae
Midline nevus flammeus Genetics
Port-wine stains were shown to be caused by a somatic activating c.548G→A
mutation in the GNAQ gene. An association with RASA1 has also been
described. Diagnosis
A healthcare provider can usually diagnose a port-wine stain based
entirely upon the history and appearance. In unusual cases, a skin
biopsy may be needed to confirm the diagnosis. Depending on the location of
the birthmark and other associated symptoms, a physician may choose to
order a measurement of intraocular pressure or X-ray of the skull.
A MRI scan of the brain may be performed on infants who have a port-wine stain in
the head area in order to check for signs of Sturge-Weber syndrome.
If the port-wine stain is inside the mouth, a provider may check the insides
of a newborn baby's throat with a scope to see if there are any changes other
than just the color. If the port-wine stain is around the eye
or on the eyelid, a referral may be made to an optometrist or ophthalmologist for
a test of the ocular pressures in that eye. If swelling occurs in the port-wine
stain, it may cause vision problems, glaucoma, or blindness.
Treatment Many treatments have been tried for
port-wine stains including freezing, surgery, radiation, and tattooing;
port-wine stains can also be covered with cosmetics. Lasers may be able to
destroy the capillaries without significant damage to the overlying
skin. Lasers and other light sources may therefore be able to reduce the redness
of stains, although there is not enough evidence to recommend one form over
another. For most people in trials of pulsed dye laser, more than 25% of the
redness was reduced by laser after one to three treatments. Adverse effects
were rare in these trials, although some people had changes to the color of the
skin, especially Chinese people with darker skin. There can be pain,
crusting, and blistering in the two weeks after treatment. The trials only
followed people for six months, so long-term outcomes are not known. Up to
ten treatments may be necessary for improvement, but complete removal may
not result. The use of topical rapamycin as an
adjunct to pulsed dye laser may improve results.
Treatment is generally given before one year of age. However, as it is
recommended to be performed under anesthesia on small children, it is not
always possible to get frequent treatments. For example in Finland a
child gets treated 2-3 times per year, resulting in a target of "being ready
before school age". After the laser treatment the skin is
filled with black marks, the size of a pen. This is due to the laser
instrument's size; the black marks disappear within 1–3 weeks. The treated
area can be sore and swollen for a couple of days.
Prognosis In the absence of successful treatment,
hypertrophy of the stains may cause problems later in life, such as loss of
function, bleeding, and increasing disfigurement. Lesions on or near the
eyelid can be associated with glaucoma. If the port-wine stain is on the face or
other highly visible part of the body, its presence can also cause emotional
and social problems for the affected person.
It is suggested that gene therapy might be used as a cure in the future.
Epidemiology Studies have recorded an incidence of
about 3–5 cases per 1,000 newborn babies.
References External links
Information about Port Wine Stains from Children's Hospital, Seattle.
Birthmarks.com Sturge–Weber Syndrome Community