A port-wine stain (''nevus flammeus'') is a discoloration of the human skin caused by a

vascular anomaly A vascular anomaly is any of a range of lesions from a simple birthmark to a large vascular tumor, tumor that may be disfiguring. They are caused by a disorder of the vascular system. A vascular anomaly is a localized defect in blood vessels or ly ...

(a capillary malformation in the skin). They are so named for their coloration, which is similar in color to

port wine Port wine (, ; ), 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 served with dessert wine, ...

, a fortified red wine from

Portugal Portugal, officially the Portuguese Republic, is a country on the Iberian Peninsula in Southwestern Europe. Featuring Cabo da Roca, the westernmost point in continental Europe, Portugal borders Spain to its north and east, with which it share ...

. 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 the 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 affect th ...

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 neurocutaneous disorder (also known as phakomatoses). It is often associated with port-wine stains of the face, glaucoma, seizures, intellect ...

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 * Midline nevus flammeus - also known as salmon patch and angel's kiss, is a

vascular Vascular can refer to: * blood vessels, the vascular system in animals * vascular tissue Vascular tissue is a complex transporting tissue, formed of more than one cell type, found in vascular plants. The primary components of vascular tissue ...

birthmark A birthmark is a congenital, benign irregularity on the skin which is present at birth or appears shortly after birth—usually in the first month. Birthmarks can occur anywhere on the skin. They are caused by overgrowth of blood vessels, melanocy ...

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 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 RAS p21 protein activator 1 or RasGAP (Ras GTPase activating protein), also known as RASA1, is a 120- kDa cytosolic human protein that provides two principal activities: * Inactivation of Ras from its active GTP-bound form to its inactive GDP-b ...

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, an interventional radiologist, or an interventional cardiology, interventional cardiologist. The process involves the extraction of sampling (medicine), sample ...

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 (also known in many languages as Röntgen radiation) is a form of high-energy electromagnetic radiation with a wavelength shorter than those of ultraviolet rays and longer than those of gamma rays. Roughly, X-rays have a wavelength ran ...

of the

skull The skull, or cranium, is typically a bony enclosure around the brain of a vertebrate. In some fish, and amphibians, the skull is of cartilage. The skull is at the head end of the vertebrate. In the human, the skull comprises two prominent ...

. 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

. 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 the healthcare practice concerned with examining the eyes for visual defects, prescribing corrective lenses, and detecting eye abnormalities. In the United States and Canada, optometrists are those that hold a post-baccalaureate f ...

ophthalmologist Ophthalmology (, ) is the branch of medicine that deals with the diagnosis, treatment, and surgery of eye diseases and disorders. An ophthalmologist is a physician who undergoes subspecialty training in medical and surgical eye care. Following a ...

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 can lead to damage of the optic nerve. The optic nerve transmits visual information from the eye to the brain. Glaucoma may cause vision loss if left untreated. It has been called the "silent thief of ...

, or

blindness Visual or vision impairment (VI or VIP) is the partial or total inability of visual perception. In the absence of treatment such as corrective eyewear, assistive devices, and medical treatment, visual impairment may cause the individual difficul ...

Treatment

Many treatments have been tried for port-wine stains including freezing,

surgery Surgery is a medical specialty that uses manual and instrumental techniques to diagnose or treat pathological conditions (e.g., trauma, disease, injury, malignancy), to alter bodily functions (e.g., malabsorption created by bariatric surgery s ...

radiation In physics, radiation is the emission or transmission of energy in the form of waves or particles through space or a material medium. This includes: * ''electromagnetic radiation'' consisting of photons, such as radio waves, microwaves, infr ...

, and

tattoo A tattoo is a form of body modification made by inserting tattoo ink, dyes, 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 processes ...

ing; port-wine stains can also be covered with

cosmetics Cosmetics are substances that are intended for application to the body for cleansing, beautifying, promoting attractiveness, or altering appearance. They are mixtures of chemical compounds derived from either Natural product, natural source ...

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'' originated as an acronym for light amplification by stimulated emission of radi ...

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 A dye laser is a laser that uses an organic dye as the lasing medium, usually as a liquid solution. Compared to gases and most solid state lasing media, a dye can usually be used for a much wider range of wavelengths, often spanning 50 to 100 na ...

, 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 rejection, organ transplant rejection, treat a rare lung disease called lymphang ...

as an adjunct to pulsed dye laser may improve results. Treatment is generally given before one year of age. 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. Although hypertro ...

(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. "Palpebral ...

can be associated with

. 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

{{Vascular anomalies Vascular anomalies Dermal and subcutaneous growths Laser medicine