A port-wine stain (nevus flammeus) is a discoloration of the human skin caused by a vascular anomaly (a capillary malformation in the skin). They are so named for their coloration, which is similar in color to port wine, a fortified red wine from Portugal.
A port-wine stain is a capillary malformation, seen at birth. Port-wine stains 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, upper trunk, arms and legs. Early stains are usually flat and pink in appearance. As the child matures, the color may deepen to a dark red or purplish color.
Port-wine stains may be part of a syndrome such as Sturge–Weber syndrome or Klippel–Trénaunay–Weber syndrome.
- Nevus flammeus nuchae
- Midline nevus flammeus - also known as salmon patch and angel's kiss, is a vascular birthmark which may be found on the glabellar region or on one upper eyelid, and presents in approximately 15% of newborns.
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
thumb|240px|[[Thomas Handasyd Perkins, American slaver and merchant with a prominent port-wine stain on his cheek]]
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.
An MRI of the brain may be performed (under anesthesia) on infants who have a port-wine stain in the head area in order to check for signs of Sturge–Weber syndrome.
Treatment is generally given before one year of age.
Prognosis
In the absence of successful treatment, hypertrophy (increased tissue mass) of the stains may cause problems later in life, such as loss of function (especially if the stain is near the eye or mouth), bleeding, and increasing disfigurement. Lesions on or near the eyelid can be associated with glaucoma.