Capillary Malformations

What are port-wine capillary malformations?

Port-wine capillary malformations, also called port-wine stains (PWS), are birthmarks that occur due to abnormal development of blood vessels. They are usually present at birth and do not resolve spontaneously.

About 3 in 1,000 babies are born with a PWS. Although they can occur on any part of the skin, they occur most commonly on the head, neck and limbs.

What do PWS look like and what happens to them as my baby grows?

PWS usually appear as pink or pale purple patches on one side of the scalp, face, neck or limbs. It affects boys and girls equally and do not usually run in families.

They can vary in size from a few millimetres to a big patch covering almost half of the face or limb. These patches grow in proportion to the growth of the child.

Although, in the initial 6 months of life, there might be an apparent lightening of the initial colour, this must not be mistaken as a sign of resolution. True PWS do not resolve without treatment. With age, the colour can darken to a deeper red or purple colour, and the affected skin may become thicker and lumpy.

Port-wine capillary malformation in a newborn

What causes PWS?

PWS are caused by genetic changes that occur during early development in genes that control blood vessel formation. The most common mutation is in the GNAQ gene. These mutations are not inherited from parents and are not passed on to future children.

What problems can occur with PWS?

Uncomplicated PWS do not usually cause any symptoms. However, they can affect the quality of life of the affected individual and their family due to their appearance. Eczema can develop over a PWS, which may become itchy or sore. Rarely, PWS can occur in association with other abnormalities depending on the location.

PWS occurring on the forehead or around the eye may be associated with eye abnormalities, including increased pressure (glaucoma), requiring treatment by a paediatric ophthalmologist.

PWS on the upper face/forehead can be associated with brain abnormalities, like fits and delayed development (Sturge-Weber Syndrome). This may require further investigations with scans or referral to a paediatric neurologist.

PWS on the central back overlying the spine can be linked to an underlying spinal defect (spinal dysraphism). This may require referral to a paediatric neurosurgeon.

Klippel-Trenaunay-Syndrome occurs when there is enlargement of the limb affected by the port wine stain, which may also develop enlarged deeper varicose-type veins.

How are congenital haemangiomas diagnosed?

Congenital haemangiomas are diagnosed with a combination of clinical history, physical examination and tests including ultrasound, magnetic resonance imaging (MRI) and less commonly, tissue biopsies.

Ultrasound:

• A useful non-invasive, non-painful test.
• Aids in diagnosis, as well as helps to assess the suitability for treatment.
• Can be performed either in the clinic or at the diagnostic imaging centre.
• Involves using a probe placed on the skin over the site of the suspected lesion.
• Duration: a few minutes to 30 minutes, depending on the size of the congenital haemangioma; requires some cooperation from the child.

MRI:

• May also be utilised to aid the diagnosis and assess the extent of congenital haemangiomas
• No radiation involved.
• Duration: 30 to 60 minutes or longer (rare). The patient needs to remain completely still for the entire duration, which may be challenging for infants and young children. In such cases, general anaesthesia (GA) may be required, administered by our team of paediatric anaesthetists.

Tissue Biopsies:

• Rarely required.
• If required, this involves cutting the skin and removing a small piece of tissue to look under the microscope.
• May be done under local anaesthetic if the child is cooperative. Otherwise, it can also be performed under sedation in the ward or under GA in the operating theatre.

Do all PWS require treatment?

PWS are not harmful and do not require treatment.

However, if they are left alone, they can darken in colour during teenage years or adulthood and the skin can become thicker. Lumps can form and lead to a cobblestone-like appearance, which may lead to bleeding.

What options are available for the treatment of PWS?

PWS can be lightened by treatment with lasers, in particular, the pulsed dye laser (PDL). Early treatment is recommended for best results, as the baby’s skin is thinner and the PWS is relatively small and light.

Laser treatment can be performed from a few months of age and has to be repeated every 2 to 4 weeks for at least 6 to 8 times. Results can vary depending on the site of the lesion and the initial colour.

PWS can darken again later in life, requiring repeat treatments.

Laser treatments can be done without the use of general anaesthesia (GA) in younger babies. However, for children above 1 year of age, it is recommended for laser treatment to be performed under GA.

Post-laser, dark bruising is often observed, which can last for 1 to 2 weeks. The skin can become more sensitive to rubbing. Other possible temporary side effects include blistering and crusting. Scarring is rare.

Patients with thickened or nodular areas over the PWS may require surgery by our team of plastic surgeons, usually in combination with laser therapy.

The aim of treatment is to lighten the PWS, as it is often not possible to make it disappear completely.

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