Port-wine stain | |
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Other names | Nevus flammeus, Firemark |
The back of a hand with prominent port-wine staining | |
Specialty | Medical genetics |
A port-wine stain (nevus flammeus) is a discoloration of the human skin caused by a vascular anomaly (a capillary malformation in the skin). [1] 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. [2] Port-wine stains persist throughout life. [3] 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. [2] [4] Early stains are usually flat and pink in appearance. As the child matures, the color may deepen to a dark red or purplish color. [2] In adulthood, thickening of the lesion or the development of small lumps may occur. [2] [5]
Port-wine stains may be part of a syndrome such as Sturge–Weber syndrome or Klippel–Trénaunay–Weber syndrome. [2]
Nevus flammeus may be divided as follows: [6]
Port-wine stains were shown to be caused by a somatic activating c.548G→A mutation in the GNAQ gene. [8] An association with RASA1 has also been described. [9]
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. [2]
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 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.
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 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. [1] Up to 10 treatments may be necessary for improvement, but complete removal may not result. [3] The use of topical rapamycin as an adjunct to pulsed dye laser may improve results. [10]
Treatment is generally given before one year of age. [11]
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.
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. [2] 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.
Studies have recorded an incidence of about 3–5 cases per 1,000 newborn babies. [12] [13] [14]
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, melanocytes, smooth muscle, fat, fibroblasts, or keratinocytes.
An infantile hemangioma (IH), sometimes called a strawberry mark due to appearance, is a type of benign vascular tumor or anomaly that affects babies. Other names include capillary hemangioma, "strawberry hemangioma", strawberry birthmark and strawberry nevus. and formerly known as a cavernous hemangioma. They appear as a red or blue raised lesion on the skin. Typically, they begin during the first four weeks of life, growing until about five months of life, and then shrinking in size and disappearing over the next few years. Often skin changes remain after they shrink. Complications may include pain, bleeding, ulcer formation, disfigurement, or heart failure. It is the most common tumor of orbit and periorbital areas in childhood. It may occur in the skin, subcutaneous tissues and mucous membranes of oral cavities and lips as well as in extracutaneous locations including the liver and gastrointestinal tract.
Nevus is a nonspecific medical term for a visible, circumscribed, chronic lesion of the skin or mucosa. The term originates from nævus, which is Latin for "birthmark"; however, a nevus can be either congenital or acquired. Common terms, including mole, birthmark, and beauty mark, are used to describe nevi, but these terms do not distinguish specific types of nevi from one another.
Cherry angioma, also called cherry hemangioma or Campbell de Morgan Spot, is a small bright red dome-shaped bump on the skin. It ranges between 0.5 – 6 mm in diameter and usually several are present, typically on the chest and arms, and increasing in number with age. If scratched, they may bleed.
Telangiectasias, also known as spider veins, are small dilated blood vessels that can occur near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. These dilated blood vessels can develop anywhere on the body, but are commonly seen on the face around the nose, cheeks and chin. Dilated blood vessels can also develop on the legs, although when they occur on the legs, they often have underlying venous reflux or "hidden varicose veins". When found on the legs, they are found specifically on the upper thigh, below the knee joint and around the ankles.
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, intellectual disability, and ipsilateral leptomeningeal angioma. Sturge–Weber syndrome can be classified into three different types. Type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions. Normally, only one side of the brain is affected. This type is the most common. Type 2 involvement includes a facial angioma with a possibility of glaucoma developing. There is no evidence of brain involvement. Symptoms can show at any time beyond the initial diagnosis of the facial angioma. The symptoms can include glaucoma, cerebral blood flow abnormalities and headaches. More research is needed on this type of Sturge–Weber syndrome. Type 3 has leptomeningeal angioma involvement exclusively. The facial angioma is absent and glaucoma rarely occurs. This type is only diagnosed via brain scan.
Lymphatic malformations are benign slow-flow type of vascular malformation of the lymphatic system characterized by lymphatic vessels which do not connect to the normal lymphatic circulation. The term lymphangioma is outdated and newer research reference the term lymphatic malformation.
A pyogenic granuloma or lobular capillary hemangioma is a vascular tumor that occurs on both mucosa and skin, and appears as an overgrowth of tissue due to irritation, physical trauma, or hormonal factors. It is often found to involve the gums, skin, or nasal septum, and has also been found far from the head, such as in the thigh.
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognized and described in 1922 by Cato van Lohuizen, a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition – Van Lohuizen syndrome. CMTC is also used synonymously with congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis and Van Lohuizen syndrome.
A venous lake is a generally solitary, soft, compressible, dark blue to violaceous, 0.2- to 1-cm papule commonly found on sun-exposed surfaces of the vermilion border of the lip, face and ears. Lesions generally occur among the elderly.
Roy G. Geronemus is an American dermatologist in the field of laser treatment of skin disorders.
A vascular malformation is a type of vascular anomaly. They may cause aesthetic problems as they have a growth cycle, and can continue to grow throughout life.
Eccrine angiomatous hamartoma (EAH), first described by Lotzbeck in 1859, is a rare benign vascular hamartoma characterized histologically by a proliferation of eccrine and vascular components. EAH exists on a spectrum of cutaneous tumors that include eccrine nevus, mucinous eccrine nevus and EAH. Each diagnostic subtype is characterized by an increase in the number as well as size of mature eccrine glands or ducts, with EAH being distinguished by the added vascular component.
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.
Klippel–Trénaunay syndrome, formerly Klippel–Trénaunay–Weber syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus, venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. It is similar to, though distinct from, the less common Parkes Weber syndrome.
Blue rubber bleb nevus syndrome is a rare disorder that consists mainly of abnormal blood vessels affecting the skin or internal organs – usually the gastrointestinal tract. The disease is characterized by the presence of fluid-filled blisters (blebs) as visible, circumscribed, chronic lesions (nevi).
A vascular anomaly is any of a range of lesions from a simple birthmark to a large 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 lymph vessels. These defects are characterized by an increased number of vessels, and vessels that are both enlarged and heavily curved. Some vascular anomalies are congenital, others appear within weeks to years after birth, and others are acquired by trauma or during pregnancy. Inherited vascular anomalies are also described and often present with a number of lesions that increase with age. Vascular anomalies can also be a part of a syndrome.
Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare condition, and its exact prevalence is unknown. It is named after British dermatologist Frederick Parkes Weber, who first described the syndrome in 1907.
Diffuse capillary malformation with overgrowth (DCMO) is a subset of capillary malformations (CM) associated with hypertrophy, i.e. increased size of body structures. CM can be considered an umbrella term for various vascular anomalies caused by increased diameter or number of capillary blood vessels. It is commonly referred to as "port-wine stain", and is thought to affect approximately 0.5% of the population. Typically capillaries in the papillary dermis are involved, and this gives rise to pink or violaceous colored lesions. The majority of DCMO lesions are diffuse, reticulated pale-colored stains.
Tina S. Alster, MD, FAAD, is an American dermatologist, educator, researcher, and author. Alster specializes in dermatologic laser surgery and cosmetic dermatology. She is the founding director of her skin care clinic, the Washington Institute of Dermatologic Laser Surgery, and is a Clinical Professor of Dermatology at Georgetown University Medical Center in Washington, D.C.