The best available classification of this complex group is the biological description of lesions of infants and children published by Mulliken and Glowacki in 1982 [1]. This exemplifies the best in clinicopathological classifications and can be applied to vascular lesions of the head and neck in all patients. It is based on cellular features and correlated with clinical findings and natural history. It separates two main biologically different lesion types: haemangiomas and vascular malformations (Table 14.1). This tutorial will refer extensively to the subtypes it defines. Mulliken and Glowacki’s classification [1] has stood the test of time and was adopted by the International Society for the Study of Vascular Anomalies in 1996. It is widely used as the basis for describing a group of conditions, often characterised by a ‘birthmark’. A minor modification was proposed in 1988 [2] which additionally divided vascular malformations into low- and high-flow lesions (Table 14.2).

The history and examination are the lynchpin of diagnosis in these conditions. The family history is rarely positive for vascular malformations [4], but establishing whether the lesion was present at birth is crucial. The characteristic appearances of different lesion types are described below, but in general terms, the examination should include an assessment of skin lesions for blanching on pressure and the firmness and compressibility of mass lesions. Skin temperature, pulsation, trills and auscultation for bruit may confirm a hypervascular lesion. Photography is useful for documenting changes over time, and investigations should include a coagulation profile. The distinction between haemangioma and vascular malformation lesions is usually possible without imaging, but it may be difficult, and imaging is important for demonstrating the extend of a lesion, its relationship to adjacent structures and for planning any surgical or endovascular intervention [5, 6].

MRI and CT scanning will demonstrate the presence of a soft tissue mass that may or may not enhance. Phleboliths may be present and bony involvement is best assessed on CT. Ultrasound is helpful to show the presence of increased blood flow and distinguish high- and low-flow vascular malformations. Catheter angiography is generally reserved for pretreatment assessment after a decision to intervene has been taken. The angiography features to be analysed include location, nidal architecture, speed of blood flow, collateral circulations, arterial ectasias and mass effect.

Both haemangioma and vascular malformations group lesions can result in impaired vision, airway restriction and oral malfunction because of mass effect. Complications include haemorrhage (usually as a result of ischaemic ulceration), cardiac failure and consumptive coagulopathy (Kasabach–Merritt syndrome), infection and glaucoma in orbital vascular malformations. Since involution can be expected in the majority of haemangiomas, treatment is supportive unless a developing complication precipitates intervention. Children often cope well with the signs of a vascular malformation and often only seek treatment for cosmetic reasons, as adolescents. The therapist needs to appreciate the psychological impact of what may appear a disfiguring lesion and how its impact on a young patient may differ from its impact on their parents.

These are the most common tumours of the head and neck region in infancy and childhood. They are benign tumours and affect up to 5% of all infants. They occur anywhere on the body with a third on the trunk (particularly genital areas), a third on limbs and 40–50% in the head and neck, usually involving the face, eyelid, lip, oral cavity or subglottic regions [9].

In its early stage, the infantile haemangioma is characterised by the presence proliferating endothelial cells lining vascular spaces and a large number of mast cells. The endothelial cells contain histochemical markers that are the same as those of placental blood vessels, namely, GLUT1+, LeY+, FcyRII+, Merosin+ [10]. This discovery leads to the theory that the cells have originated (possibly embolised) from the placenta, but other hypotheses concerning their aetiology include a somatic mutation in a gene controlling endothelial cell proliferation and their origin from specific endothelial progenitor cell [9]. Also implicated is hypoxia due to placental insufficiency stimulating angiogenesis. Elevated expression of an inhibitor to new blood vessel formation has been reported during the involution phase [11].

Typically, they appear in infancy, though a minority may be recognised at birth, the majority are evident by the age of 3 months. Risk factors are prematurity, female sex (female/male ratio 3:1) and Caucasian ethnicity. They grow rapidly, usually in the first 6 months, and then undergo fatty replacement and involution. Involution usually begins after the age of 1 year and is completed by adolescence. Complete involution occurs in 80–95% of cases. They were multiple in 23% of patients in a large population-based study [12].

Initially, there is an erythematous macular cutaneous patch, with a blanched spot or localised telangiectasia surrounded by a pale halo. An old descriptive term was strawberry naevus or strawberry haemangioma. Deeper lesions may cause a bluish hue to the overlying skin, or the skin may be normal. As they grow, the appearance is that of a nonspecific soft tissue mass. Intraosseous invasion is rare, unlike vascular malformations. Complications are caused by about 10% of lesions. The most common is bleeding (6%), then ulceration (5%) and then dysfunctions due to lesion affecting feeding, vision or the airway (4%) [12].

Imaging has a limited role in diagnosis. MRI is the commonly performed imaging investigation because it shows the deeper relationship of cutaneous lesions and any displacement of vital structures.

Ultrasound: Shows a combination of solid parenchyma and dilated vessels. Colour flow Doppler cannot distinguish haemangioma from arteriovenous malformations because both show high blood flow due to shunts but this reduces with involution.

MRI: MRI shows a lobulated lesion with heterogeneous signal on T1-weighted sequences and hyperintense signal on T2-weighted sequences with flow voids. Foci of increased T1 signal intensity, which are less hyperintense on T2-weighted sequences, are due to fatty replacement as the tumour involutes. Satellite lesions may be seen in the periphery of deep lesions.

DSA: DSA demonstrates displacement of adjacent vessels with an organised pattern of arterial supply from local arteries and drainage into enlarged superficial veins. There is an intense capillary blush, filling of the vascular spaces in the capillary phase, and areas of arteriovenous shunting (Fig.14.1).

In general, management of haemangiomas is conservative, and medical treatment instigated only if the lesion’s growth becomes symptomatic. If treatment becomes necessary, systemic or intra-lesion corticosteroids are used. Systemic prednisone in doses of 2 mg/kg/day for 4–6 weeks is sometimes given to stimulate involution. It is then reduced with a tapered reduction over 3–4 months. It is effective in about 50–80% of patients. Percutaneous injections of corticosteroids in small daily amounts have been shown to hasten tumour regression. Other options include interferon alpha and vincristine. Interferon alpha-1, administered daily by subcutaneous injection for 6–12 months, has shown a good response in most steroid-sensitive lesions [13]; however, the treatment is associated with potential serious side effect and is slow and costly. Like vincristine, it is reserved for larger tumours resistant to other therapies.

Recently, propranolol has been reported to inhibit the growth and induce regression [14] and is undergoing trials with initial results suggesting that it will replace corticosteroids as first-line treatment. In a systemic review, the response rate was 98% to a mean oral dose of 2.1 mg/kg/day over a mean of 6.4 months [9]. An alternative treatment for more complex lesions is bleomycin (reported to cure 50% of haemangiomas [15]) and laser treatment (results are inconsistent) [16].

The major indications for interventions that include surgery and/or embolisation are cardiac failure, coagulation disorders, orbital deformity, oral mass effects and mandible growth impairment, steroid resistance and patient intolerance to the mass (Fig. 14.2).

Salivary gland haemangioma: This occurs most commonly in the parotid gland. Its mass may cause facial asymmetry but usually not VII^th cranial nerve damage. Since tumours can be expected to involute, embolisation is usually not required.

PHACE Syndrome: The term is an acronym coined for the association of posterior fossa brain malformations, haemangiomas, coarctation of the aorta and other cardiac defects, and eye abnormalities [17]. Though the association of extra and intra-cranial vascular malformations with cutaneous haemangioma had been described previously [18]. The diagnosis should be considered in children with birthmarks, and though rare, it is probably underdiagnosed [19].