Broadly speaking, a birthmark is present from birth, and vascular birthmarks are either red, blue, or occasionally skin coloured, depending on the type of vessels involved and their location in the skin. The ISSVA classification system for vascular anomalies divides into tumours and malformations.
Infantile haemangiomas (IH) are the most common benign tumour of infancy with a classic history of a period of growth after birth, followed by a period of involution. Histologically characterised by glut-1 positivity on immunohistochemistry, a biopsy is rarely required for diagnosis.
There may be a mark on the skin at birth, but the growth after birth is a key part of the history. Photos of the baby at birth and at review can be very helpful to confirm the diagnosis. If the hemangioma is fully formed at birth and does not grow after birth, it should be referred for review and other diagnoses considered.
Ultrasound is often unhelpful in the diagnosis of IHs and delays diagnosis and treatment.
IHs may be superficial (cherry red), deep (bluish – these can be difficult to distinguish from venous malformations) or mixed with a superficial and deep component.
Many IHs will proliferate and then involute leaving an excellent cosmetic result. Large protuberant IHs can leave architectural distortion with some fibrofatty residual and lax skin. IHs that ulcerate will leave scarring.
The serendipitous discovery that oral propranolol blocked the growth of IHs has led to propranolol (now also atenolol) being used as first-line treatment for IHs that are ulcerated, segmental or large, cosmetically significant or affect function (e.g. block vision).
Maximal growth of IHs occurs in the first eight weeks of life. A small IH in the first two weeks can grow quickly, so early referral is essential.
Once IHs are in the involutional phase (often heralded by reduced volume, subtle surface wrinkling, colour change from bright red to purple to whitish) beta blockers have a less clear role, although they may hasten involution.
Topical timolol is helpful only for small superficial IHs where parents do not want to use an oral beta blocker. There is absorption of timolol through the skin and the dose absorbed is less controlled. Significant hemangiomas are often not controlled by topical timolol and the opportunity to stop their growth is lost.
It is important that patients understand beta blockers do not cause the hemangioma to shrink away immediately, rather the aim is to stop the IH from growing any bigger. Beta blockers are continued until the time the IH would have naturally stopped growing, and then the IH can continue to naturally involute. This process can take two to seven years and occasionally longer.
Pulse dye laser is an adjunct treatment for ulcerated and very superficial IHs and can be used to clear residual telangiectasia once the IH has completely involuted. Excision or plastic surgery may be required for IHs that leave an unacceptable scar or fibrofatty residual.
If a child is born with more than five infantile hemangiomas, liver and brain ultrasound is recommended. Oral beta blockers may be indicated if there are visceral hemangiomas, and thyroid function may need to be tested. Large or segmental IHs can be associated with PHACE or LUMBAR syndrome and need referral and multidisciplinary assessment.
Salmon patches
Salmon patches (simplex nevus) also known as stork marks or angel kisses, are common, superficial capillary vascular malformations that can affect the upper lip, nose, glabella, eyelids, forehead, scalp, occiput, and lower back. The eyelid and faint glabella salmon patches (SPs) will routinely fade, but paranasal, lip, prominent V shaped on the forehead, scalp, occiput, and lower back SPs tend to persist. Those persistent at 12 months are unlikely to fade.
Pulse dye laser is offered for SPs unlikely to self-resolve as soon as possible; laser is better tolerated in younger children, and often less treatments are required.
Very prominent SPs can be associated with underlying genetic diseases (e.g. Beckwith-Wiedemann syndrome).
Extracranial arteriovenous malformations can mimic SPs or faint port wine stains clinically and may not show growth and high flow on ultrasound until around puberty.
Port wine stains
These darker capillary vascular malformations are present at birth and respond to pulse dye laser especially on the face.
I perform pulse dye laser monthly for the first 12-18 months to try and get maximal fading without needing general anaesthetic. Topical sirolimus ointment between laser sessions can be helpful.
Segmental port wine stains (PWS) of the face involving the forehead or upper eyelids can be associated with Sturge Weber syndrome requiring MRI, ophthalmology review and close monitoring for any signs of seizure activity or developmental delay, with paediatric neurology.
Multiple PWS on the body should be referred for review. Reticular port wine stains can be difficult to distinguish from cutis marmorata telangiectatica congenita (CMTC) which can be associated with ipsilateral limb hypotrophy. In these cases, longitudinal monitoring is required.
The infantile hemangioma with minimal or arrested growth (IH-MAG) can mimic a reticulate PWS. The clue in the latter condition is tiny dark blebs that appear over time.
Venous and lymphatic malformations
A simple venous or lymphatic malformation usually presents as a bluish or skin coloured swelling. Venous malformations tend to be compressible. Treatment may be sought if cosmetically bothersome and or causing pain. A combination of physical therapy (compression), surgery, sclerotherapy, and emerging medical therapies (oral sirolimus and anticoagulation) can be trialled to improve cosmesis, pain and function.
Those with multiple blue swellings should be referred for assessment.
Key messages
- Without a history of growth after birth a diagnosis of infantile hemangioma should not be made
- Oral beta blockers are gold standard for IHs that are cosmetically concerning, ulcerated, segmental and or affecting function
- Children with multiple hemangiomas should be screened for liver and brain involvement.
– References available on request
Author competing interests – nil