A congenital capillary vascular malformation, often referred to as a port wine stain or birthmark, is common, occurring in approximately three out of every 1000 babies born. It is a congenital (occurring at birth), vascular malformation resulting in a permanent red/blue/purple stain on the skin. This malformation can occur anywhere on the body but most commonly appear on the arms, legs, face, neck and scalp. Port wine stains are not contagious or associated with genetic abnormalities and generally are not concerning. There are rare risks, when the stain occurs near the eye, eyelid or forehead, of eye problems or epilepsy. In some instance, when a port wine stain covers one area of a side of the body, the affected area will grow larger than its opposite. Such as an affected arm being larger than the other.
Port wine stains can be small or large ranging in size anywhere from a few millimetres to several centimetres. Initially they usually appear as a flat, red area of skin which darkens to purple and can become lumpy over time. By middle age the macule may have raised as a result of developing vascular nodules which may readily bleed.
What causes a Port wine stain?
Port wine strains develop due to an issue with the very small blood vessels, the capillaries. The affected capillaries, instead of being narrow, have become excessively dilated and pool with blood – the red/purple colour associated with port-wine stains. As the capillaries grow and distort the stain changes shape.
Whilst port wine birthmarks are relatively harmless, they can cause psychological stress, are a risk of associated disorders and can become darker and nodular over time, making their appearance much more pronounced.
Treatment for Port wine stain
Generally, there is no treatment for port wine stain. Whilst the stain does not grow to cover more area, it will grow as the child grows, becomes darker and may take on a lumpy or puffy appearance. The skin may become dry compared to other areas of skin, in which case the use of moisturising creams can help.
Laser therapy is considered the best option if the stain needs to be removed and should start by the time the baby is 6 months of age. Laser therapy may be needed if the port wine birthmarks are in areas of the body where they press on structures such as the windpipe or eye area. Laser therapy removal of birthmarks early in life can help avoid any negative psychological trauma associated with skin abnormalities.
Port wine stains are present at birth. Any skin legion which appears after birth should be seen by a medical practitioner.
Congenital Haemangiomas
Congenital haemangiomas differ from other haemangiomas as they are fully formed at birth and may stay the same for years or they may also disappear over time. A haemangioma may need treatment if it is causing problems - such as ulceration, scaring or effecting eyesight. Treatments may include medicine, laser or surgical options.
Mongolian spots
Mongolian spots (MS) are a congenital birthmark most commonly found in newborns of Asian or African ethnicity and most commonly occur over the lumbosacral area (lower back). Mongolian spots appear as a bluish-green to black colored oval or irregular shape stain and whist they are mostly benign, atypical lesions could be related to other conditions and should be assess for risk of any underlying genetic disorders.
Strawberry naevus
Strawberry naevus, also known as a haemangioma, are a common birth mark which appear after birth. They can appear anywhere on the body but often it’s the area of the neck or head where they commonly occur. Haemangioma acquired the name "strawberry naevus" due to their bright red colour.
Haemangioma formation is due to an over-growth of the cells which line the arteries and veins. They will often reduce as the child ages and generally do not need any treatment.
Laser therapy
Laser therapy can be used to remove a port-wine stain and in the least may be able to lighten the colour making them less noticeable. Several treatments may be needed depending on the location, skin colour and size of the birthmark.
Laser therapy targets pigmented blood vessels without damaging other areas of skin, effectively destroying the affected cutaneous blood vessels. The heat from laser or light therapy damages the targeted blood vessel, which disintegrate and dissolve over time resulting in fading, shrinking and if possible complete disappearance of the strain.
Laser treatment can cause pain. The pain resembles being flicked with an elastic band and is usually tolerable, but anaesthetic cream to numb the area can be applied or mild sedation if necessary. General anaesthetic may be used if there is a large area to be covered. The area receiving treatment may be sore, swollen and even appear bruised afterwards and blisters may form. After treatment protocols and advice will be given by the by the hospital or clinic performing the procedure. Ice packs and pain relief are often all that is needed.
Laser therapy can be used on areas of abnormal skin tissue. It reduces the risk of unwanted side effects such as cutaneous hypertrophy (disfigurement of the normal architecture of the skin causing thickening and nodules), and psychological trauma.
Laser treatment is suggested in early infancy due to the dermis of younger skin, which thickens during aging. This allows for optimal targeting of vessels.
Sturge Weber syndrome
Sturge Weber syndrome (SWS) is a rare disorder associated with a facial port wine birthmark, neurological abnormalities (seizures, developmental delay and intellectual impediments) and eye abnormalities, such as glaucoma. These conditions can become worse as the child ages. Children with ophthalmic (V1) dermatomal facial port wine stain are at risk for Sturge Weber syndrome. SWS is connected to a genetic mutation and activation of pathways associated with port wine stain.
Klippel-Trenaunay syndrome
Klippel-Trenaunay syndrome (KTS) is a rare congenital abnormal development of blood vessels, soft tissues, bones and the lymphatic system. A port-wine stain is a feature of this condition along with overgrowth of issues and bones and malformation of veins. The lymphatic system is not always affected in the disorder. The port-wine stain usually covers a leg or arm on one side of the body. There is no cure for KTS. Treatment is based on symptom management and avoiding complications.
References
- https://www.rch.org.au/kidsinfo/fact_sheets/Port_wine_stains/
- The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6539103/
- https://rarediseases.org/rare-diseases/sturge-weber-syndrome/
- https://glaucoma.org.au/what-is-glaucoma/types-of-glaucoma/sturge-weber-syndrome
- https://www.rch.org.au/kidsinfo/fact_sheets/Haemangiomas_of_infancy/
- https://www.mayoclinic.org/diseases-conditions/hemangioma/diagnosis-treatment/drc
- Mongolian spots: How important are they?https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3856299/#
- A comprehensive review of Mongolian spots with an update on atypical presentations https://pubmed.ncbi.nlm.nih.gov/30083796/
- Laser treatment of port-wine stains https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296879/#__sec3title
- https://www.mayoclinic.org/diseases-conditions/klippel-trenaunay/symptoms-causes/syc-20374152
- An overview of clinical and experimental treatment modalities for port wine stains https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4143189/
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