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A port-wine stain (''nevus flammeus'') is a discoloration of the human skin caused by a vascular anomaly (a
capillary malformation A vascular malformation is a blood vessel or lymph vessel abnormality. Vascular malformations are one of the classifications of vascular anomalies, the other grouping is vascular tumors. They may cause aesthetic problems as they have a growth cyc ...
in the skin). They are so named for their coloration, which is similar in color to
port wine Port wine (also known as vinho do Porto, , or simply port) is a Portuguese wine, Portuguese fortified wine produced in the Douro, Douro Valley of Norte, Portugal, northern Portugal. It is typically a sweetness of wine, sweet red wine, often ...
, a fortified red wine from
Portugal Portugal, officially the Portuguese Republic ( pt, República Portuguesa, links=yes ), is a country whose mainland is located on the Iberian Peninsula of Southwestern Europe, and whose territory also includes the Atlantic archipelagos of th ...
. 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 The face is the front of an animal's head that features the eyes, nose and mouth, and through which animals express many of their emotions. The face is crucial for human identity, and damage such as scarring or developmental deformities may aff ...
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. In adulthood, thickening of the lesion or the development of small lumps may occur. Port-wine stains may be part of a
syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a sy ...
such as
Sturge–Weber syndrome Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, ...
or Klippel–Trénaunay–Weber syndrome.


Types

Nevus flammeus may be divided as follows:James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. Page 582–3. . *
Nevus flammeus nuchae Naevus flammeus nuchae, or colloquially stork bite, is a congenital capillary malformation present in newborns. It is a common type of birthmark in a newborn. Prevalence and symptoms Stork bites occur in a significant number of newborns, with es ...
*
Midline nevus flammeus 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.James, William; Berger, Timothy; Elst ...


Genetics

Port-wine stains were shown to be caused by a somatic activating c.548G→A mutation in the
GNAQ Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the ''GNAQ'' gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit. Function Guanine nucleotide-binding proteins are a fam ...
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 A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist. The process involves extraction of sample cells or tissues for examination to determine the presence or extent of a dise ...
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 An X-ray, or, much less commonly, X-radiation, is a penetrating form of high-energy electromagnetic radiation. Most X-rays have a wavelength ranging from 10 picometers to 10  nanometers, corresponding to frequencies in the range 30&nb ...
of the
skull The skull is a bone protective cavity for the brain. The skull is composed of four types of bone i.e., cranial bones, facial bones, ear ossicles and hyoid bone. However two parts are more prominent: the cranium and the mandible. In humans, th ...
. 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 Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, ...
. 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 (growths) 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 Optometry is a specialized health care profession that involves examining the eyes and related structures for defects or abnormalities. Optometrists are health care professionals who typically provide comprehensive primary eye care. In the Un ...
or
ophthalmologist Ophthalmology ( ) is a surgical subspecialty within medicine that deals with the diagnosis and treatment of eye disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a med ...
for a test of the ocular pressures in that eye. If swelling occurs in the port-wine stain, it may cause vision problems,
glaucoma Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for aqueous humor, fluid withi ...
, or
blindness Visual impairment, also known as vision impairment, is a medical definition primarily measured based on an individual's better eye visual acuity; in the absence of treatment such as correctable eyewear, assistive devices, and medical treatment� ...
.


Treatment

Many treatments have been tried for port-wine stains including freezing,
surgery Surgery ''cheirourgikē'' (composed of χείρ, "hand", and ἔργον, "work"), via la, chirurgiae, meaning "hand work". is a medical specialty that uses operative manual and instrumental techniques on a person to investigate or treat a pa ...
,
radiation In physics, radiation is the emission or transmission of energy in the form of waves or particles through space or through a material medium. This includes: * ''electromagnetic radiation'', such as radio waves, microwaves, infrared, visi ...
, and
tattoo A tattoo is a form of body modification made by inserting tattoo ink, dyes, and/or pigments, either indelible or temporary, into the dermis layer of the skin to form a design. Tattoo artists create these designs using several tattooing ...
ing; port-wine stains can also be covered with
cosmetics Cosmetics are constituted mixtures of chemical compounds derived from either natural sources, or synthetically created ones. Cosmetics have various purposes. Those designed for personal care and skin care can be used to cleanse or protec ...
.
Lasers A laser is a device that emits light through a process of optical amplification based on the stimulated emission of electromagnetic radiation. The word "laser" is an acronym for "light amplification by stimulated emission of radiation". The fir ...
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 port-wine 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 10 treatments may be necessary for improvement, but complete removal may not result. The use of topical
rapamycin Sirolimus, also known as rapamycin and sold under the brand name Rapamune among others, is a macrolide compound that is used to coat coronary stents, prevent organ transplant rejection, treat a rare lung disease called lymphangioleiomyomatosi ...
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 (15 minutes) 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" (7 years). WIth older laser treatments 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. However, with newer v-beam laser treatments, there may not be any marks at all.


Prognosis

In the absence of successful treatment,
hypertrophy Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. It is distinguished from hyperplasia, in which the cells remain approximately the same size but increase in number.Updated by Linda J. ...
(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 Disfigurement is the state of having one's appearance deeply and persistently harmed medically, such as from a disease, birth defect, or wound. General societal attitudes towards disfigurement have varied greatly across cultures and over time, ...
. Lesions on or near the
eyelid An eyelid is a thin fold of skin that covers and protects an eye. The levator palpebrae superioris muscle retracts the eyelid, exposing the cornea to the outside, giving vision. This can be either voluntarily or involuntarily. The human eye ...
can be associated with
glaucoma Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for aqueous humor, fluid withi ...
. 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.


Epidemiology

Studies have recorded an incidence of about 3–5 cases per 1,000 newborn babies.Dr Thajudheen MD (Dr Thaj laser skin hair clinic), Kannangath Jyothy, Arul Priyadarshini
"Treatment of port-wine stains with flash lamp pumped pulsed dye laser on Indian skin: A six year study"
''Dr. Thaj Laser Skin-Hair Clinic'', 2 April 2014


References

{{Congenital malformations and deformations of integument Dermal and subcutaneous growths Laser medicine