Vascular Anomalies
Vascular anomalies is a general term used to describe a swelling consisting of abnormal blood vessels. They can be divided into two types of abnormality: vascular malformations and vascular tumours. Vascular malformations consist of several types of developmental abnormality of blood vessels: they are divided into low flow (venous and lymphatic malformations) and high flow (arterio-venous malformations and arterio-venous fistulae).
Venous Malformations (VMs)
Venous malformations are abnormal clusters of veins that form during fetal development, leading to poorly developed or malformed blood vessels. These malformations can occur anywhere in the body, including deeper tissues or just beneath the skin. While they generally grow in size over time, they do so at a rate that mirrors the growth of the body itself. This means that they often become more noticeable during periods of rapid growth, such as childhood, adolescence, and pregnancy, when hormonal changes can also stimulate faster growth.
The primary symptoms of venous malformations are related to swelling, pain, and changes in skin appearance, such as a bluish tint due to blood pooling in the veins. In some cases, they can also lead to more serious complications, like bleeding, ulcers, or clotting.
Diagnosis typically involves imaging studies like ultrasound or MRI to assess the extent and location of the malformation. Treatment options can vary depending on the size, location, and severity of the malformation and may include options like sclerotherapy (injecting a solution to shrink the veins), laser therapy, or surgical removal in some cases.
Patients who have venous malformations may experience the following symptoms:
Swelling: This is often a soft lump that can appear on any part of the body; the swelling can increase and decrease at different times.
Pain: This can be mild to severe depending on the size and location of the malformation.
Skin discolouration.
Bleeding.
Increased swelling and pain caused by clot formation in the malformation.
Rarely ulceration.
Our Patient Information Leaflets Website Page provides further information on how we treat these Malformations.
Lymphatic Malformations (LMs)
Lymphatic malformations (LM) are abnormalities that occur in the lymphatic system, which is responsible for draining excess fluid and waste from tissues, maintaining fluid balance, and supporting immune function. When parts of the lymphatic system do not develop properly, it can lead to the formation of malformations. These malformations can range in size and severity and are typically present from birth.
- Macrocysts large pockets containing lymph
- Microcysts, which are very small pockets of lymph
- A combination of the two
- A combination of venous and lymphatic malformations
Diagnosis typically involves imaging studies like ultrasound or MRI to assess the extent and location of the malformation. Treatment options can vary depending on the size, location, and severity of the malformation and may include options like sclerotherapy (injecting a solution to shrink the lymphatic malformation), laser therapy, or surgical removal in some cases.
Patients who have lymphatic malformations may experience the following symptoms:
Swelling: This is often a soft lump that can appear on any part of the body; the swelling can increase and decrease at different times.
Pain: This can be mild to severe, depending on the size and location of the malformation.
Skin discolouration.
Increased swelling and pain can occur in association with any viral infection.
Rarely ulceration.
Our Patient Information Leaflets Website Page provides further information on how we treat these Malformations.
Arterial Malformations (AVMs)
Arteriovenous malformations (AVMs) are a rare and complex condition in which there is an abnormal connection between arteries and veins, bypassing the normal capillary network. This can lead to a variety of health issues depending on their location and size. AVMs can cause symptoms like pain, swelling, bleeding. The rapid growth is seen in AVMs, especially during puberty or pregnancy, is linked to hormonal changes that may stimulate the growth of blood vessels.
Treatment options for AVMs may vary, ranging from observation and medication to more invasive procedures such as surgery, embolisation (blocking blood flow to the malformation).
Because of their potential to grow and cause complications, AVMs require careful monitoring and management.
Patients who have AVMs may experience the following symptoms:
- Swelling: This is often a soft lump that can appear on any part of the body; the swelling can increase and decrease at different times.
- Pain: This can be mild to severe depending on the size and location of the malformation.
- Skin discolouration.
- Bleeding.
- Increased swelling and pain caused by clot formation in the malformation.
- Rarely ulceration.
Our Patient Information Leaflets Website Page provides further information on how we treat these Malformations.
Capillary Malformations (CM)
Capillary malformation (CM), also known as port wine stain, is a type of vascular anomaly that involves an abnormal formation of blood vessels near the skin’s surface, giving the skin a red, purple, or pink appearance. These malformations are typically present at birth and can occur anywhere on the body. Over time, CM can darken and sometimes develop bumps or blebs, which may lead to bleeding in adults.
Treatment for CM varies depending on the extent of the malformation. If the CM affects only the skin, dermatologists are often the primary specialists, and laser therapy is the most common treatment used to reduce the appearance of the lesion. However, when CMs are associated with deeper vascular issues or other vascular birthmarks, a multi-disciplinary approach may be necessary. This can involve dermatologists, interventional radiologists, general or plastic surgeons, haematologists, and geneticists, who work together to address the condition both externally and internally.
Laser therapy is especially effective for managing the cosmetic aspects of CM, reducing discoloration and improving skin texture. In cases where the CM is associated with other complications, additional interventions may be considered.
Nevus Simplex
Nevus Simplex, a type of congenital mark commonly seen in newborns. These marks are typically faint pink patches with feathery borders that appear on areas like the eyelids, forehead (especially between the eyebrows), and around the sides of the nose. They are often referred to as “angel’s kisses” when found on the forehead or eyelids, and “stork bites” when located on the back of the neck. Most of these marks fade or become less noticeable as the child grows, often within the first few years of life.
Nevus simplex can sometimes occur on the body, particularly on the legs, and may be associated with deeper vascular birthmarks such as venous malformations, lymphatic malformations, or arteriovenous malformations. These deeper structures may require imaging, such as MRI or magnetic resonance angiography (MRA), to examine the blood vessels beneath the visible marks and assess the extent of any vascular anomalies. These imaging techniques can provide crucial information about the underlying blood vessels and help guide any further medical decisions or treatments if necessary.
Vascular Tumours
Haemangiomas
A haemangioma is a benign (non-cancerous) growth of blood vessels that forms a lump or raised area under the skin. These growths can vary in size and appearance, often appearing as red or purple, and can be soft or firm to the touch.
Haemangiomas are most commonly found on the head and neck, especially on areas like the cheek, lips, or eyelids, but they can develop on other parts of the body as well. They are often present at birth or appear within the first few weeks of life, particularly in infants, and they may grow rapidly before gradually shrinking and fading over time.
While most haemangiomas don’t require treatment, in some cases, medical intervention might be needed if they affect vision, breathing, or cause significant discomfort or other complications
Infantile Haemangioma
Infantile haemangiomas are benign vascular tumours that often appear in new-borns. They typically start as a flat, pink patch shortly after birth, which may be subtle and not easily noticed, particularly if the haemangioma is deeper (dermal) rather than superficial. If it is deep, the colour may be more bluish, but this can sometimes be attributed to lighting rather than the presence of a haemangioma.
The haemangioma undergoes rapid growth, reaching about 80% of its final size by around 3 months of age. After this, the growth rate slows down. Growth typically arrests between 6 and 9 months, after which the process of regression or resolution begins. This regression is gradual, with about 10% of the lesion resolving each year. Full resolution can take several years, typically completing by the age of 5 to 10 years.
In summary:
- At birth, minimal signs, usually a flat pink patch.
- Rapid growth within the first 3 months.
- Growth slows down between 6-9 months.
- Gradual resolution starts from 12-18 months and can take several years (about 10% per year).
It’s important to monitor these lesions for any potential complications, such as ulceration, bleeding, or impairment of function if located near the eyes, airway, or other vital areas.
Infantile Haemangiomas (IHs), treatment options can include:
- Oral Beta-Blockers: Propranolol is the most commonly used oral beta-blocker for IHs. It has been shown to reduce the size and colour of the haemangiomas by inhibiting the growth of blood vessels and reducing blood flow to the tumour.
- Topical Beta-Blockers: Timolol, a topical beta-blocker, can also be used, especially for smaller or superficial haemangiomas. It can help reduce the size and redness without the side effects associated with oral medications.
- Systemic Corticosteroids: Prednisone or prednisolone can be used in certain cases when the haemangioma is causing complications, such as airway obstruction, or if it is in a high-risk location. These can help reduce inflammation and the growth of the haemangioma.
- Laser Treatment: Pulsed dye lasers or other types of lasers can be used to target the blood vessels in the haemangioma. Laser therapy is often used to treat superficial haemangiomas or residual lesions after other treatments have been completed.
- Surgery: Surgery is typically reserved for haemangiomas that do not respond to other treatments or if they cause significant functional or aesthetic concerns, such as in the case of large, ulcerated, or bleeding lesions.
The choice of treatment depends on the size, location, and symptoms caused by the haemangioma, as well as the age and health of the child. Our paediatric dermatologist or paediatrician will review your child to make a tailored treatment plan.
Congenital Haemangioma
Congenital haemangiomas are vascular tumours present at birth. They can be categorized into different types based on their behaviour and clinical course:
- RICH (Rapidly Involuting Congenital Haemangioma):
- This type resolves over weeks to months after birth
- It typically undergoes rapid involution and shrinks significantly in size, eventually disappearing.
- NICH (Non-Involuting Congenital Haemangioma):
- This type does not undergo involution, meaning it persists throughout life.
- NICH haemangiomas remain relatively stable and do not regress over time.
- ‘Half-way-house’ Haemangio
- This type shares features of both RICH and NICH types.
- It may improve over time but does not fully resolve, leading to persistent, though reduced, size and appearance of the lesion.
Treatment Considerations:
- Medical treatment tends to be ineffective for congenital haemangiomas, particularly for NICH and half-way-house types.
- Surgical intervention may be considered, especially if the lesion causes complications, but it is often reserved for situations where the haemangioma does not resolve on its own or if there are functional or aesthetic concerns.
- The medical approach may help confirm the diagnosis or assist in monitoring progression, especially in the case of RICH, where involution is expected.
Other Syndromes
Some vascular malformations and tumours can occur as part of genetic or inherited syndromes. In these cases, the vascular anomaly is often just one aspect of a broader, multisystem condition. Syndromes that are associated with vascular anomalies include:
- Klippel-Trénaunay Syndrome (KTS): Characterized by a combination of capillary malformations, venous malformations, and limb hypertrophy. Patients may also have soft tissue or bone overgrowth.
- Sturge-Weber Syndrome (SWS): Involves facial port-wine stains, leptomeningeal angiomatosis (vascular malformations in the brain), and glaucoma. This syndrome can cause neurological complications.
- Parkes Weber Syndrome: A rare condition involving arteriovenous malformations (AVMs) and may cause limb overgrowth, as well as skin and soft tissue changes.
- Cerebral Cavernous Malformation: This syndrome features multiple cavernous malformations in the brain and spinal cord, and can lead to seizures, haemorrhages, and neurological deficits.
- Hereditary Haemorrhagic Telangiectasia (HHT): This is an autosomal dominant condition that leads to the formation of abnormal blood vessels (telangiectasias) and arteriovenous malformations (AVMs), potentially affecting organs like the lungs, liver, brain, and intestines.
In these cases, the treatment approach needs to be coordinated, addressing not only the vascular anomaly but also other systemic manifestations of the syndrome. This interdisciplinary care typically involves a range of specialists, including vascular surgeons, neurologists, geneticists, dermatologists, and sometimes orthopaedic surgeons or pulmonologists, depending on the specific symptoms and organs involved.
Management strategies may include:
- Surgical intervention for symptom control or to reduce the size of malformations.
- Endovascular treatments, such as embolization, to block blood flow to problematic lesions.
- Laser therapy to treat certain types of vascular malformations like port-wine stains.
- Pharmacological management for associated symptoms, such as pain, bleeding, or neurological issues.
- Regular monitoring to track progression and anticipate complications, such as bleeding or neurological decline.
In summary, a multidisciplinary approach is key to managing patients with vascular anomalies associated with genetic or inherited syndromes, ensuring all aspects of the condition are addressed for optimal care.