Capillary malformation (Port wine stain/PWS)
What is a capillary malformation or port wine stain?
A capillary malformation, also known as a port-wine stain, is a red or purple mark on the skin present from birth. They are caused by widened blood vessels where blood flows slowly through the area all the time.
Capillaries are the smallest blood vessels in the body, and researchers believe that these malformations occur while a child is still in the womb.
No known food, medication, or activity during pregnancy can cause a child to have a capillary malformation.
How common are they?
Port Wine Stains occur in approximately one in every 300 babies, with some research suggesting they are twice as common in girls.
Where do they occur?
They can occur anywhere on the body but are more common on the face or neck. A person can also have several capillary malformations in different places on their body.
How are they diagnosed?
Diagnosis is usually made by a doctor examining the birthmark.
Treatment
A capillary malformation can be effectively treated with laser therapy, which reduces the widened blood vessels and can lighten the colour. Early treatment yields the best results.
Untreated capillary malformations can become darker over time and may develop a deep purple and lumpy appearance.
Laser Treatment
- Works best on young children, particularly for face, neck, and chest birthmarks.
- Capillary malformations on limbs often respond poorly to treatment.
- Treatment usually starts between 6 months to 1 year of age.
- Better results are achieved when treating patients from a young age.
- Sessions occur every 6-8 weeks, typically requiring 6-8 treatments.
- The effectiveness depends on the location and depth of abnormal blood vessels.
- Most patients see improvement, but complete disappearance is rare.
- Capillary malformations tend to darken as children grow, requiring repeated courses of laser treatment.
Associated Syndromes
Sturge-Weber Syndrome (SWS)
A capillary malformation on the face can sometimes indicate Sturge-Weber Syndrome, a rare neurological disorder affecting the skin, brain, and eyes.
It can lead to epilepsy, glaucoma, and learning difficulties, with symptoms often appearing in the first year of life.
Children with capillary malformations on the forehead, eyelid, or scalp should be checked by a paediatrician, who may recommend an MRI scan.
Klippel-Trenaunay Syndrome
This syndrome consists of three main symptoms:
- Capillary malformation
- Venous malformations
- Limb hypertrophy (extra growth of a limb)
The syndrome is present at birth, but the port-wine stain is often the only visible sign. Diagnosis can be challenging until other symptoms appear. It affects approximately 1 in every 20,000 to 40,000 children.
Macrocephaly-Capillary Malformation (M-CM)
M-CM is a multiple malformation syndrome causing body and head overgrowth, as well as abnormalities in the skin, vascular system, brain, and limbs.
The disorder has been linked to a genetic mutation in the PIK3CA gene, identified in June 2012. This mutation occurs after cell division begins, making inheritance unlikely. The percentage of affected cells varies between individuals, leading to a wide range of severity.
Diagnosis is based on clinical observations, with common symptoms including:
- Macrocephaly (large head)
- Congenital macrosomia (excessive growth at birth)
- Extensive cutaneous capillary malformations
- Body asymmetry
- Extra or fused fingers or toes
- Loose joints
- Doughy skin
- Variable developmental delays
- Neurological problems such as seizures and low muscle tone
Disclaimer
This site does not provide medical advice and is not a substitute for medical or professional care. If you see a birthmark growing or changing significantly, see a specialist.