Vascular birth marks

The GP curriculum and vascular birth marks

There is no specific mention of vascular birth marks in the curriculum, however, Clinical module 3.21: Care of people with skin problems requires GPs to:

Identify symptoms that are within the range of normal and require no medical intervention, e.g. age-related changes such as dry skin/hair loss and innocent moles

Salmon patch

Salmon patches or ‘stork marks’ are present at birth as flat pink or red areas on the forehead, eyelids or neck. They are seen in up to half of births and usually fade over the first few months of life. Some around the forehead or back of neck persist for longer. It is thought they are related to stretching or dilating of the capillaries, with the majority completely fading away by age 2 years. They do not have any associated conditions and do not require treatment. However, parents may require some explanation and reassurance.

Haemangioma

A haemangioma is a collection of small blood vessels that form a lump under the skin (see Fig. 1). They are also known as ‘strawberry marks’. They are usually visible at birth or appear in the first week of life and can grow for up to 6–10 months. OPEN IN VIEWER

There are various theories about the cause of haemangiomas. They are thought by some to arise from placental tissue during early stages of development in utero. They are not hereditary, but are more common in females, low-birth-weight babies and multiple births.

The most haemangiomas (up to 80%) do not cause any problems and never require treatment. Most fade and disappear over the first few years of life, up to the age of 6 years (Finn, Glowacki, & Mulliken 1983). There are some useful patient information leaflets available to help reassure parents, such as those from the British Association of Dermatologists website.

Haemangiomas are usually visible on the skin, but can, less commonly, form on organs such as the brain or in the airways. This should be considered in children with multiple haemangiomas and further investigation initiated with attention given to the possibility of associated conditions – see Box 1. Some haemangiomas can grow rapidly, and depending on their location, cause subsequent problems with development; for example, lesions encroaching on the visual field or the nasal bridge. Problematic haemangiomas require referral to secondary care for treatment. The first-line treatment, which is generally well-tolerated, is with beta-blockers, either oral or topical. These have a good success rate for preventing growth and can speed-up involution of the lesion. Some infants require an electrocardigram prior to starting an oral beta-blocker (propranolol) and monitoring after initiation of the first dose and after any subsequent dosage adjustment. Potential side effects include bradycardia and hypotension. Other possible side effects include alterations in blood glucose and disturbed sleep pattern. Other therapies, now much less used, include oral corticosteroid therapy and immunomodulatory drugs such as imiquimod and alpha-interferon. Side-effect profiles should be reviewed and shared (Zheng et al., 2013). Most haemangiomas will resolve without problems, but referral should be considered if the haemangioma is causing problems, not only those listed above but also if the haemangioma is frequently ulcerated or infected. Typically, troublesome areas include the nappy region. The route of referral varies throughout the country and local guidelines should be consulted. Paediatric dermatology referral is a good option available in some areas.

OPEN IN VIEWER

Box 1.

Associated conditions.

Associated conditions of haemangioma:

• PHACES-posterior fossa, haemangioma (large, flat and facial mostly), arterial cerebralvascular abnormality, cardiac defects, eye anomalies. Rare

Associated conditions port wine stain (PWS):

• Glaucoma

• Sturge–Weber syndrome: PWS, glaucoma and neurological problems including seizures due to PWS on surface of the brain

• Klippel–Trenaunay syndrome: arm or leg extensive PWS and abnormal limb growth- excessive

• Spinal abnormalities: If PWS over spine it can be associated with neural tube defects

There are many more rare conditions associated with vascular birth marks; further information is available from the websites in the references and further information section.

Those haemangiomas that do not respond to treatment or that remain after the age of 8 years can be surgically treated, depending on location. However, it is important that patients and their families are aware that scar formation can sometimes outweigh the benefits of removal of the birthmark.

Port wine stains

A port wine stain (PWS) or naevus flameus is a capillary malformation that is present as a pink or red mark at birth (see Fig. 2). They occur in 0.1–0.3% of all births (Faurschou, Olesen, Leonardi-Bee, & Haedersdal, 2011) and majority of PWSs occur in the region of the head and neck. OPEN IN VIEWER

A PWS is a form of dynamic birthmark that will remain in some form for the entirety of life. They can change in colour over time, most commonly becoming darker and they can become nodular or thickened. They commonly change in association with hormonal change (such as at puberty or with pregnancy) as well as the more general changes over time. A possible complication is the development of papules and pyogenic granulomas. These can easily bleed and should be treated to prevent bleeding. This complication is less likely when the PWS has been treated with laser therapy. Certain distributions of PWS are associated with rare conditions, this means that investigations should be completed and future care provided (see Box 1 for associated conditions).

PWS treatment aims to reduce visibility and treat or prevent hypertrophy and nodularity. The mainstay of treatment is laser therapy. Laser therapy is not effective in all cases of PWS and is only effective at reducing visibility, not complete removal. Multiple courses of laser treatment over a lifetime are often required to maintain a PWS. The other key management of PWS is ‘camouflage make-up’ to reduce visibility and disguise the PWS.

Laser therapy is best conducted in early life, as results tend to be better compared with treatment in adulthood. However, it can be initiated at any age. Initially, early childhood treatments are under general anaesthetic, later and in adults it can be done with local anaesthetic. After laser treatment, the skin appears ‘dotty’ and can be bruised. Laser treatment is generally well-tolerated with few side effects, although some blistering and bruising in the days to weeks after treatment is reported and occasionally scarring can occur. The laser most used in the UK is the pulsed dye laser, which emits light at a frequency absorbed by haemoglobin (Willacy, 2014). Research into combination treatments of laser therapy with and without topical beta-blocker reported no significant difference in outcomes (Passeron et al., 2014).

PWS involving the face or head should be referred to paediatric dermatology soon after birth, as further testing is likely to be necessary and treatment at an early age may be more beneficial. PWSs that affect other body parts do not require any form of referral, but extensive marks or those associated with hypertrophy can be referred. PWS with late complications, such as nodularity or granulomas, can be referred to adult dermatology, but treatment availability on the NHS for PWS is changing and does vary depending on local area funding. PWS treatment for children is generally funded for facial lesions, but for adults it is considered cosmetic and therefore not funded. Camouflage make-up can be accessed through charities and local prescribing guidelines may still allow prescription of camouflage make-up although this is variable and subject to change.

Over time there is no way to predict how a PWS will change. Some PWSs can require treatment with surgery for nodules and hypertrophy, for example, when the PWS affects a lip, lip reduction surgery may be sought.

Some people grow to embrace their PWS and do not seek treatment of any kind. A visible PWS can, however, be a source of concern for parents and the individual with varying degrees of psychosocial impact. Research shows a higher incidence of low mood in people with PWS along with poor self-esteem, especially between 10 and 20 years of age compared with people without PWS (Troilius, Wrangsjö, & Ljunggren, 1998). There is a case for early treatment to help improve longer-term psychological outcomes.

Venous malformation

A venous malformation (VM) may be present at birth, but not obvious until the child is older. They result from an abnormality of the smooth muscle in veins of unknown cause. VMs appear as soft blue lumps under the skin and can become more obvious if blood flow increases such as when crying or during exercise. They grow in proportion to the child and can also be affected by hormonal changes. Diagnosis can be more challenging than the other described vascular birth marks and often requires ultrasound or MRI scan. Complications associated with VMs include thrombosis, local bruising and an increased risk of infection in the affected vessels. The location of the VM can also cause problems. For example, in the neck they can potentially affect the airway, or near the eye they can affect vision. Lymphatic malformations, which are also classed as a vascular birth mark, present in a similar way with similar treatment options.

Options for treatment are varied based on the problems caused by the VM. A small lesion that causes no problems can be left and monitored. A VM with an increased risk of thrombosis may require treatment with anticoagulants and risk management for planned surgery or long haul flights, especially when associated with a history of VM thrombosis. Sclerotherapy can be used with good results, depending on the nature of the lesion. Sclerotherapy involves injections to cause an inflammatory reaction, clotting, scarring and subsequent shrinkage of the lesion. A course of sclerotherapy may be required, and side effects include pain and swelling immediately after receiving treatment. Other risks include infection, ulceration of the skin and rarely nerve damage from swelling. However, the procedure is generally very well tolerated. Surgery is another option if the malformation is in a position amenable to successful removal. The risk of scarring should be considered. Treatment of VMS is aimed at improving symptoms and shrinkage of the VM. Many VMs require ongoing treatment, and patients are likely to need camouflage make-up and psychological support as discussed under PWS.

Conclusions

Vascular birth marks are common and can be identified at baby checks or when parental concerns are raised opportunistically. The nature of vascular birth marks is varied and they are often subject to change. Referral for treatment is sometimes required and can be very effective; however, some types of birth marks will persist throughout life. A PWS or VM can present with complications throughout adulthood and access to treatment is important, along with access to psychological support if required. A vascular birthmark is not always ‘just a birth mark’ and when seeing patients it is important to consider the problem holistically, the wider impact of the birth mark and patients’ concerns for the future.

KEY POINTS

The majority (80%) of haemangiomas do not cause problems and never require treatment