Infantile haemangiomas

​​
​ ​Figure 1. Superficial (A) and deep (B) infantile haemangiomas

 

Infantile haemangiomas (IH) are a type of vascular tumour that present in the first three to four weeks of life as enlarging red or bluish papules or nodules (Figure 1), growing in breadth and depth over four to five months. Thereafter they slow in growth until the child is about a year old, before beginning to involute (decrease in size).

IH are the most common vascular tumours in children, affecting two to four per cent of infants. They are more common in females, premature infants and twins.

Most IH are uncomplicated with minimal cosmetic concern and can be observed for spontaneous resolution. Small IH can involute to near-normal skin. Large IH, however, left untreated, may involute with residual fibrofatty change, telangiectasias (spider veins) and skin atrophy. A handful of IH may lead to life-threatening or function-threatening complications, or have a potential to cause severe cosmetic disfigurement.

Early identification and treatment within the first six months of life can reduce the following complications:

  • Large IH on the head and neck region may be associated with eye, brain and heart abnormalities (PHACES syndrome), while those in the groin, perineal or sacral region may be associated with spinal and genito-urinary abnormalities (PELVIS syndrome).
  • IH at certain sites (e.g. lip, groin, neck and ear) may ulcerate and lead to pain, infection and scarring.
  • Multiple IH (more than five) may be associated with visceral involvement (e.g. liver or spleen) and consumptive hypothyroidism.
  • Complicated IH require prompt referral to a specialist centre for urgent investigations and treatment.

Both systemic (e.g. propranolol) and topical (e.g. timolol) beta-blockers have been shown to be highly effective in the treatment of complicated IH if started within the first year of life. Lasers, such as pulsed dye laser, can also be used to treat IH.

Occasionally, reconstructive surgery may be required for large, pedunculated IH or for treatment of residual cosmetic concerns. Radiological interventions such as embolisation may be required for large visceral IH that are associated with high-output cardiac failure.

Kasabach-Merritt Syndrome, kaposiform haemangioendothelioma and tufted angioma

 

Figure 2. Kaposiform haemangioendothelioma (KHE) presenting on the limb of an infant

Kasabach-Merritt syndrome (KMS) is characterised by thrombocytopenia, coagulopathy and microangiopathic haemolytic anaemia, and can lead to severe bleeding in a child due to low platelets and clotting factors. The syndrome is associated with a rapidly expanding kaposiform haemangioendothelioma (KHE) (Figure 2) and tufted angioma (TA), which are uncommon vascular tumours presenting in infancy.

The vascular lesion commonly becomes enlarged and indurated, and infants can present with bleeding manifestations such as ecchymoses, epistaxis, haematochezia and haematuria.

Although both KHE and TA can be locally aggressive, they may also undergo spontaneous involution. Diagnosis of KHE and TA is made based on clinical, radiological (ultrasound or magnetic resonance imaging) and histological features.

Treatment of KMS, KHE and TA may require different regimens and a multi-disciplinary approach. Management options include systemic high-dose corticosteroids, anti-fibrinolytics, interferon, vincristine, and anti-thrombotics. More recently, the use of mTOR (Mammalian Target Of Rapamycin) inhibitors have proven to be effective in reducing both KMS, as well as the size of the underlying tumour. Surgery, embolisation and radiation are occasionally required.