Congenital Haemangioma

• Vascular tumour present at birth
• Well-circumscribed, hypervascular mass with variable involution over time.

Description

Congenital haemangiomas are benign vascular tumours present at birth. Unlike infantile haemangiomas, which appear postnatally and grow rapidly in the first year of life, congenital haemangiomas are fully formed at birth. They are characterised by rapid involution (RICH), partial involution (PICH), or non-involution (NICH). These lesions are often found on the skin but can occur in other tissues. The exact cause is unknown, but they are believed to arise from aberrant angiogenesis during fetal development.

What is the difference between a vascular tumour and vascular malformation?

As per the ISSVA (International Society for the Study of Vascular Anomalies) classification for vascular anomalies (2018):

• A vascular tumour is a true neoplasm characterised by the proliferative changes of endothelial cells, leading to growth and formation of new vessels. They grow rapidly, out of proportion with the patient, and may subsequently involute.
• A vascular malformation is a structural anomaly of blood vessels that is present at birth, resulting from errors in vascular development, and does not exhibit endothelial cell proliferation​. They grow proportionately with the patient.

See more at ISSVA.

Pathogenesis

Congenital haemangiomas arise from abnormal vascular proliferation and differentiation during fetal development. They consist of blood-filled vessels and supporting stromal tissue, fully developed by birth. The distinction between congenital and infantile haemangiomas is important, as the former do not exhibit the postnatal growth phase typical of the latter. Genetic and environmental factors influencing angiogenesis during pregnancy are thought to contribute to their development.

Subtypes

• Rapidly Involuting Congenital Haemangioma (RICH): Undergoes significant regression within the first year of life.
• Partially Involuting Congenital Haemangioma (PICH): Shows partial regression over time.
• Non-Involuting Congenital Haemangioma (NICH): Does not regress and may require intervention if symptomatic or problematic.

Epidemiology, Risk Factors & Associations

• Rare, exact prevalence unknown.
• Slight female predominance.
• No specific risk factors or associations identified.

Clinical Features

• Present at birth as a solitary, raised, red to purple lesion.
• Typically located on the head, neck, or limbs.
• May be associated with warmth, pulsatility, and sometimes ulceration.
• RICH: Rapid regression within the first year.
• PICH: Partial regression over time.
• NICH: No regression, may remain stable or grow proportionally with the child.

Complications

• Ulceration with risk of secondary infection and pain.
• Bleeding due to trauma or ulceration.
• Functional impairment depending on the size and location, can affect vision, breathing, or feeding.

Pathological Features

Histopathology

• Macroscopic: Well-circumscribed, lobulated, red to purple mass.
• Microscopic: Proliferation of capillary-sized vessels with a lobular architecture. Endothelial cells are typically flat or cuboidal with surrounding stromal tissue.

Radiological Features

General Features

• Firstline Investigation: Ultrasound.
• Well-circumscribed, hypervascular mass, often located in the skin and subcutaneous tissues.
• Calcifications are typically absent (if present, suggests phleboliths seen in venous malformation).
• Typically confined to cutaneous or subcutaneous tissues, however they can also occur within various organs and deeper tissues.
• The majority occur in the head and neck – Head & neck (60%), trunk (25%), extremities (15%)

Ultrasound

• B-mode: Well-defined, homogeneous, hypoechoic or isoechoic mass. Lobulated margins. Can appear as a complex cystic lesion if there are areas of necrosis or haemorrhage.
• Colour Doppler: Hypervascular with high blood flow. Vascular channels can be visualised within the lesion.

MRI

• T1: Isointense or slightly hyperintense relative to muscle. The presence of blood products may cause areas of hyperintensity.
• T2: High signal intensity due to the presence of fluid-filled vascular spaces. May show heterogeneity if there are areas of thrombosis or haemorrhage. Low signal flow voidsmay be present.
• FLAIR: Not typically used for primary evaluation but can show fluid-fluid levels if haemorrhage is present.
• DWI/ADC: No restricted diffusion.
• T1 Gad+: Intense, homogeneous enhancement after gadolinium administration. Enhances the vascular channels and solid components.
• SWI/GRE/T2*: May show blooming artifact due to haemosiderin from prior hemorrhage.

CT

• Non-contrast: Well-circumscribed, soft-tissue mass.
• Contrast-enhanced: Rapid enhancement with contrast due to the vascular nature of the lesion. May show heterogeneity if there are areas of necrosis or thrombosis.

Grading and Staging

Congenital haemangiomas do not have a formal grading or staging system. Diagnosis and management are based on clinical and radiological findings, as well as the lesion’s behaviour (involution or non-involution).

Diagnosis

• Clinical examination and patient history.
• Ultrasound and MRI are primary diagnostic tools.
• Biopsy is rarely needed but can confirm diagnosis if appearances are atypical.

Differential Diagnosis

• Infantile Haemangioma: Most common soft tissue tumour of childhood. Appears after birth, rapid growth phase, and then involution.
• Vascular Malformations: Do not regress, present as capillary, venous, or lymphatic malformations.
• Dermatofibroma: Benign skin nodules, typically firm and non-vascular.
• Pyogenic Granuloma: Rapidly growing vascular lesion that may appear similar but is typically smaller and associated with trauma.
• Kaposi Sarcoma: Malignant vascular tumour, typically associated with immunocompromised states and characterised by multiple lesions.

Management

• Most RICH and PICH regress spontaneously and require no intervention.
• Beta-blockers (e.g., propranolol) can be used for problematic lesions, although less commonly than for infantile haemangiomas.
• Surgical Intervention may be indicated for NICH or symptomatic lesions, or for cosmetic or functional concerns. Options include excision or laser therapy.
• Regular monitoring to assess regression and manage any complications.