Paediatric & Craniofacial

Vascular Anomalies

Vascular anomalies are conditions involving abnormal development of blood vessels or lymphatic vessels. Many are visible at birth or during the first year of life, although some only become noticeable later when they grow, change colour, cause pain, or interfere with function. Most vascular anomalies are benign, but some can be complex and require ongoing care. Early assessment and the correct diagnosis is so children receive the right treatment at the right time.

Classification

The ISSVA (International Society for the Study of Vascular Anomalies) classification divides vascular anomalies into two major groups:

Vascular Tumours

These are lesions that show abnormal cellular growth. The most common example is the infantile haemangioma, which grows rapidly in early infancy and then slowly shrinks over time.

Vascular Malformations

These are structural vessel abnormalities present at birth. They grow proportionally with the child and do not regress.

Within this category there are: capillary malformations, venous malformations, lymphatic malformations and arteriovenous malformations,

The ISSVA system ensures accurate diagnosis and guides appropriate treatment.

The common vascular anomalies that are encountered in children include:

Infantile Haemangiomas

These soft, bright red or blue lesions typically appear in the first few weeks of life and were previously known as strawberry naevi. They often start as a faint pink patch before rapidly becoming more raised and vividly coloured. Infantile haemangiomas follow a very predictable natural history. They undergo a proliferative (growth) phase during the first 3-6 months of life, where they may enlarge quickly in size and thickness. A slower growth phase may continue up to around 9-12 months. After this, they enter an involution phase, where the lesion gradually softens, lightens in colour, and shrinks over several years. By school age, many haemangiomas have significantly improved, although some may leave behind residual skin laxity, telangiectasia (small visible vessels), or a subtle contour irregularity. Most haemangiomas are completely harmless, however some can ulcerate, bleed, obstruct vision, cause nasal or airway blockage, or interfere with feeding, depending on their size and location. Haemangiomas in the eyelids, nose, lip, beard area (lower face and neck), or central face are more likely to cause complications and often require earlier treatment.

Treatment

The first-line therapy is a medication called propranolol, which is highly effective when started early, ideally within the first year of life, and usually continued until around 12 months of age to prevent rebound growth. Propranolol prevents proliferation of the lesion and reduces the risk of ulceration.

While medication has greatly reduced the number of haemangiomas requiring surgery, there is still an important role for surgical treatment, particularly after the haemangioma has finished involuting. Surgery may be considered when there is persistent bulky tissue or excess skin after involution or if the lesion causes long-term distortion of the lip, nose, or eyelid. Sometimes early excision is required if there is a functional problem.

Capillary Malformations

Usually appearing as flat pink or red patches (port-wine stains), they can occur anywhere on the body. Over time they may darken, thicken, or develop small nodules. Depending on location, they may be associated with underlying syndromes or structural changes.

Treatment

Pulsed dye laser remains the mainstay treatment to lighten the colour and reduce long-term thickening.

Venous Malformations

Venous malformations appear as soft, compressible blue or purple lesions that may enlarge with crying or activity. They can occur in the skin, muscles, joints, or internal organs. Symptoms include pain, swelling, distortion of nearby structures, and formation of small clots (phleboliths) that can cause tenderness.

Treatment

Sclerotherapy is the primary treatment, shrinking the malformation through targeted injections. Electrosclerotherapy may be used for small or superficial areas. Surgery is considered in selected cases, often after sclerotherapy.

Lymphatic Malformations

These fluid-filled cystic lesions often occur in the head and neck but can appear anywhere. They may be macrocystic (large cysts), microcystic (tiny clusters), or mixed. Symptoms include swelling, recurrent infections, discomfort, leakage of lymphatic fluid, and sudden enlargement due to bleeding or infection.

Treatment: Sclerotherapy is first line for macrocystic lesions, while microcystic areas may benefit from electrosclerotherapy. Surgery may be suitable for well-defined or functionally problematic lesions and generally involves excising or debulking malformation itself.

Arteriovenous Malformations

These are warm, pulsatile lesions caused by abnormal connections between arteries and veins. They may appear as red patches with visible vessels and can cause swelling, pain, ulceration, bleeding, or tissue destruction over time. They often progress during later childhood or adolescence.

Treatment

Pre-operative embolisation is essential to block blood flow and reduce bleeding risk before any surgery. A combined approach with interventional radiology and surgical excision offers the best outcomes.

Combined Malformations and Overgrowth Syndromes

Some children have anomalies involving multiple vessel types or associated tissue overgrowth. These include:

PIK3CA-Related Overgrowth Spectrum (PROS)

These conditions arise from somatic mutations in the PIK3CA gene, leading to asymmetric overgrowth of tissues and complex vascular malformations. Presentations can include limb enlargement, fatty tissue overgrowth, venous or lymphatic malformations, and chronic pain.

Klippel–Trénaunay Syndrome

This condition involves a triad of capillary malformations, venous and lymphatic malformations, and limb overgrowth. Children may present with limb asymmetry, varicose veins, recurrent infections, and functional limitations walking

Treatment

Management is highly individualised with options that include sclerotherapy, compression with a occupational therapist, orthopaedic evaluation for limb length discrepancies, and, increasingly, targeted genetic therapies such as sirolimus or PI3K inhibitors.

Multidisciplinary Care

Vascular anomalies often require coordinated care from multiple specialists. At the Queensland Children’s Hospital, management is supported by a dedicated team including interventional radiologists, paediatric surgeons, otorhinolaryngologists, haematologists, geneticists, paediatricians, and occupational therapists. We recommend that all children with a vascular anomaly be seen at some point through the Vascular Anomalies Multidisciplinary Clinic at the Queensland Children’s Hospital for review. This team-based approach ensures comprehensive assessment, imaging, genetic evaluation, medical therapy, and procedural planning.

The Growing Role of Genetics

Genetic testing has become increasingly important in diagnosing and managing vascular anomalies. Identifying mutations such as PIK3CA can help clarify the diagnosis and also guide targeted medical therapies, including sirolimus or Alpelisib in selected cases.

If you have any queries about vascular anomalies or would like to arrange a consultation, please contact us at Terrace Plastic Surgery.
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