Vascular lesions of the head and neck are complex and diverse. These include infantile hemangioma, venous malformations, lymphatic malformations, and arteriovenous malformations, among others. Vascular malformations and tumors display different growth patterns and require different approaches to treatment. Therefore, accurate diagnosis is of utmost importance. This article is a guide for the diagnosis and management of vascular lesions of the head and neck.
Key points
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Vascular malformations represent a complex and highly variable group of head and neck masses, for which correct diagnosis is of the utmost importance.
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A thorough history and examination can usually lead to diagnosis, which is confirmed with imaging.
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The decision-making process of whether and when to treat these lesions requires expertise across multiple disciplines, and will be dually rewarding and frustrating.
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Using these guidelines, the clinician can set a realistic expectation and plan for each individual patient.
Introduction
Vascular anomalies represent a broad range of vascular malformations and tumors, which predominantly occur in the head and neck and are seen in approximately 4.5% of children. Due to the wide variety of different presentations, growth behavior, and available treatments, which depend on the lesion, accurate diagnosis is of utmost importance. Proper diagnosis will aid in patient and family counseling and expectations, and it is helpful if they understand from the beginning that treatment will tend to be long-term. Using hemangioma as a blanket diagnosis to include vascular malformations (venous, lymphatic, and arteriovenous), with the incorrect implication that the lesion will regress over time, will lead to unrealistic expectations and increased the chance of complications from the lesion.
Vascular anomalies are divided into vascular tumors and vascular malformations, according to the International Society for the Study of Vascular Anomalies classification system, which is based on the work of Mulliken and Glowacki in 1982 ( Table 1 ). This is an important distinction because malformations and tumors show different growth characteristics. Infantile hemangioma (IH) is the most common and is considered a benign vascular tumor. IH will rapidly enlarge, then slowly regress over time, but many will still need treatment.
| Vascular Anomalies | |
|---|---|
| Vascular Tumors | Vascular Malformations |
| Hemangioma | High-flow |
| Infantile | Arteriovenous |
| Congenital (RICH or NICH) | Mixed Arterial |
| KHE | Low-flow |
| Tufted angioma | Venous |
| Pyogenic granuloma | Lymphatic |
| Other rare vascular tumors | Capillary or venular |
Vascular malformations are relatively uncommon, rarely regress, and will continue to enlarge and cause increased complications over time. This includes venous malformation (VM), lymphatic malformation (LM), and arteriovenous malformation (AVM). The paradigm is shifting toward early treatment of vascular malformations when the lesion is smaller and there has been less distortion or invasion of local tissues.
Vascular anomalies represent an opportunity for collaboration in conjunction with a multidisciplinary vascular anomalies team. The authors encourage an active and frequent dialogue between otolaryngology, dermatology, interventional radiology, plastic surgery, hematology-oncology, pediatric surgery, orthopedic surgery, physical therapy, psychology, and social work. This article discusses the spectrum of common vascular anomalies, with a focus on IH as well as VMs, LMs, and AVMs.
Introduction
Vascular anomalies represent a broad range of vascular malformations and tumors, which predominantly occur in the head and neck and are seen in approximately 4.5% of children. Due to the wide variety of different presentations, growth behavior, and available treatments, which depend on the lesion, accurate diagnosis is of utmost importance. Proper diagnosis will aid in patient and family counseling and expectations, and it is helpful if they understand from the beginning that treatment will tend to be long-term. Using hemangioma as a blanket diagnosis to include vascular malformations (venous, lymphatic, and arteriovenous), with the incorrect implication that the lesion will regress over time, will lead to unrealistic expectations and increased the chance of complications from the lesion.
Vascular anomalies are divided into vascular tumors and vascular malformations, according to the International Society for the Study of Vascular Anomalies classification system, which is based on the work of Mulliken and Glowacki in 1982 ( Table 1 ). This is an important distinction because malformations and tumors show different growth characteristics. Infantile hemangioma (IH) is the most common and is considered a benign vascular tumor. IH will rapidly enlarge, then slowly regress over time, but many will still need treatment.
| Vascular Anomalies | |
|---|---|
| Vascular Tumors | Vascular Malformations |
| Hemangioma | High-flow |
| Infantile | Arteriovenous |
| Congenital (RICH or NICH) | Mixed Arterial |
| KHE | Low-flow |
| Tufted angioma | Venous |
| Pyogenic granuloma | Lymphatic |
| Other rare vascular tumors | Capillary or venular |
Vascular malformations are relatively uncommon, rarely regress, and will continue to enlarge and cause increased complications over time. This includes venous malformation (VM), lymphatic malformation (LM), and arteriovenous malformation (AVM). The paradigm is shifting toward early treatment of vascular malformations when the lesion is smaller and there has been less distortion or invasion of local tissues.
Vascular anomalies represent an opportunity for collaboration in conjunction with a multidisciplinary vascular anomalies team. The authors encourage an active and frequent dialogue between otolaryngology, dermatology, interventional radiology, plastic surgery, hematology-oncology, pediatric surgery, orthopedic surgery, physical therapy, psychology, and social work. This article discusses the spectrum of common vascular anomalies, with a focus on IH as well as VMs, LMs, and AVMs.
Infantile hemangiomas
Diagnosis
IHs are true benign tumors of infancy and are the most common vascular anomaly. IHs are seen in approximately 4% to 10% of infants, usually before the age of 1 year, and 60% of these will present in the head and neck. IHs are more common in whites, low-birth weight infants, and multiple gestations (2–3:1 girl/boy ratio).
Histologically, IHs are composed of proliferating immature endothelial cells and disorganized vessels. The exact pathway is not fully understood, but IHs derive from endothelial stem cells with abnormal angiogenesis and vasculogenesis. Current areas of study have implicated the vascular endothelial growth factor (VEGF) and adrenergic receptor pathway, which may be the mechanism by which propranolol can shrink these tumors. GLUT-1 has been identified as a specific marker for IH, with 97% of IH testing positive for GLUT-1. Interestingly, GLUT-1 is only otherwise seen in placental tissue and endothelial cells at the blood-brain barrier. The specificity of GLUT-1 for IH has an important role in management. If a lesion is not behaving as an IH should and is suspected to be another type of vascular lesion (or is not responding to propranolol; see later discussion), a biopsy should be performed with GLUT-1 as a marker. Tumors that are GLUT-1 negative should not be expected to follow the typical proliferation-involution cycle of IH.
IHs can be classified as unifocal, segmental, or multifocal if multiple sites are involved. More than 5 cutaneous IHs necessitates an ultrasound or MRI to investigate for liver hemangiomas, which may bleed and be life-threatening. Segmental IH will present along the dermatome of a cranial nerve, usually trigeminal distribution, and may have the classic beard distribution. Patients with segmental facial hemangiomas should be evaluated for posterior fossa, hemangioma, arterial lesions, cardiac abnormalities, eye abnormalities syndrome (PHACE), and have a higher incidence of subglottic hemangiomas with airway complications.
IHs can also be classified as superficial, deep, or compound. Superficial hemangiomas will have the classic bright-red strawberry appearance and appear soft without dependent changes ( Fig. 1 ). Deep IH has appearance of a subcutaneous mass and a compound has both. Portions of the IH that are under the skin may appear more dark red or purple. Previous classifications, including strawberry hemangioma, capillary hemangioma or cavernous hemangioma, should not be used.
IHs follow a typical pattern of rapid growth followed by slow involution. They are usually not present at birth, or parents will report a flat, red vascular staining of the skin at the site of a subsequent IH. During the first few months of life, IH will demonstrate rapid expansion in size and, in some cases, may ulcerate, bleed, or cause distortion of surrounding tissues and possible lasting cosmetic deformity. By age 5 months, most IHs will grow to 80% of their potential size.
After an initial proliferation stage, there is a period of quiescence followed by slow involution. The bright red of a superficial IH will turn more dusky and gray as it flattens. The involution stage can take years to complete, with approximately 30% of IHs involuting by 3 years, 50% by 5 years, and some lasting until 10 years. Although the aberrant vessels naturally involute, there are often residual fibrofatty tissue and telangiectasias that remain, and treatment should be considered.
Management
Propranolol
The dramatic shift in IH treatment after the serendipitous discovery of the effectiveness of propranolol for IH in 2008 by Léauté-Labrèze and colleagues is well described. Propranolol is now the first-line treatment of IH, and the threshold for treatment has been decreasing over time. IHs which will cause severe functional or cosmetic deformity should be treated early, including those covering the eye, subglottic, and nasal tip (Cyrano deformity), to prevent complications or vision loss. After the initial case series, there has been an abundance in the literature describing the impressive response to propranolol, with the appropriate shift from initial case reports to randomized controlled trials. A recent trial comparing propranolol to prednisolone showed similar efficacy with significantly fewer adverse events with propranolol, affirming its place as first-line therapy for IH.
The mechanism of action of propranolol in IH is not fully understood but likely is related to VEGF and adrenergic vasoconstriction pathways. Propranolol causes involution of the IH, including decrease in size and change from bright red to a more gray, dusky color. These can often be observed within the first few days of treatment. Various protocols have been described, but a consensus statement in 2012 recommends a target dose of 1 to 3 mg/kg/d (usually 2 mg/kg/d) divided 3 times a day, after a screening EKG. Propranolol is most effective during the proliferative phase of IH growth and does not show the same efficacy during the natural involution phase. Patients are typically placed on propranolol for 6 to 12 months, then weaned off. Should rebound growth be observed, propranolol is restarted. For superficial facial lesions without complications, such as on the forehead or conchal bowl, topical timolol cream has shown some effectiveness in preliminary studies. It should be noted that there are no Food and Drug Administration–approved treatments for IH, including beta-blockers, which are considered off-label. Approximately 3% of IHs will not respond to propranolol therapy. In a nonresponding lesion biopsy with glucose transporter (GLUT)-1, staining should be strongly considered because lesions that are GLUT-1 negative are not considered IH and will not respond to propranolol.
Subglottic IH typically presents with progressively worsening stridor and airway obstruction in the first few months of life (during the proliferative phase). Approximately 50% of patients with subglottic IH will have a cutaneous IH although the converse is not true. Prompt recognition of symptoms and evaluation with laryngoscopy or bronchoscopy is critical. These are typically posterior-lateral, more often on the left, and can be bilateral. In acute distress an endotracheal tube can be carefully advanced past the soft lesion. Previously, tracheostomy, endoscopic laser resection, or open resection was considered, but now intubation with initiation of propranolol is recommended. Most lesions will respond, and the patient can be extubated after several days and continued on propranolol as an outpatient.
Surgical management
Even with the paradigm shift of IH treatment with propranolol, it is important to recognize surgery still has a role. Up to 50% of IH will need a procedure at some point, either initial or adjuvant surgical therapy. Often, this is to resect residual fibrofatty involucrum, or pulsed-dye laser therapy for lasting skin staining. Again, surgical intervention should be considered earlier during the proliferative phase if there is significant deformation of the surrounding tissue, especially cartilage, with functional or cosmetic consequences. It is usually better to resect a problematic hemangioma while it is small than it is to watch it destroy tissue that later needs to be reconstructed.
There are several other types of hemangiomas, which are also benign vascular tumors of capillaries but do not demonstrate the growth/regression pattern of IH. These include noninvoluting congenital hemangioma and rapidly-involuting congenital hemangioma, and they behave as named. Confirmation of diagnosis by a dermatologist is recommended.
Venous malformations
Diagnosis
VMs represent the third most common vascular mass in the head and neck after IHs and LMs. By definition, these are present at birth but, depending on the location and growth, may present as late as adulthood. VMs typically present as compressible masses, often with overlying blue or purplish skin staining. On the mucous membranes, these will be soft purple blebs. VMs can present at any site but are more common in the muscle and mucous membranes.
Unique characteristics
VMs have several other unique characteristics that aid in diagnosis. These can be elicited to expand with dependent drainage of venous blood into the ectatic veins of the lesion, usually by leaning the patient back and putting the head beneath the heart. The Valsalva maneuver will also cause expansion, and endoscopic evaluation while crying is particularly useful for laryngeal VMs to determine extent of obstruction. In the operating room, the patient can be placed in Trendelenburg position to elicit a similar result.
Additionally, phleboliths may be palpated within the lesion as very firm nodules that may be tender. Acute thrombus formation may cause severe pain with expansion and may be the presenting symptoms of a deep-seated VM. Pain, caused by venous stasis or thrombus, is fairly unique to VMs but may also be seen with AVMs.
Histology
Histologically, VMs are made up of aberrant venous channels in communication with each other. These are tortuous, thin-walled vessels lacking an internal elastic membrane and disorganized smooth muscle cells. Venous blood from normal vessels enters the lesion and does not easily find an exit, leading to gradual expansion over time. This can invade into adjacent tissue, and the static blood can lead to thrombosis and calcification that is often painful.
Mutations
VMs are typically due to sporadic mutations, but approximately 1% to 5% are familial or genetic. These include cutaneomucosal VM, glomuvenous malformation, and blue rubber bleb nevus syndrome. Multifocal VM may have gastrointestinal lesions, with risk for gastrointestinal bleeding, and full evaluation by an experienced dermatologist is recommended.
Ultrasound
Ultrasound of VM is useful for superficial sites and will show a well-demarcated lesion containing compressible hypoechoic tubular channels. Phleboliths may be present and will appear as echogenic shadowing foci. Doppler ultrasound shows a low-flow lesion as expected. On MRI, VM will appear isointense on T1-weighted sequences and hyperintense on T2-weighted sequences. There is uniform or heterogeneous enhancement, with no large flow voids, which would be present in a high-flow lesion.
Management
Treatment of VM usually involves sclerotherapy or surgery or laser therapy, and often requires a multimodality approach. Most VMs will require treatment at some point. Smaller, well-contained lesions can often be completely cured with a single procedure. For large VMs, complete excision is difficult or has risk of injury to surrounding structures, and recurrence is common. Treatment is guided by the depth of the lesion, proximity to vital structures, and presence of mucosal involvement.
Sclerotherapy
Sclerotherapy typically involves an alcohol-based agent, sodium tetradecyl sulfate foam, or ethanolamine injected directly into the lesion after confirmation of location with fluoroscopy. Lower flow lesions and venous lakes will allow the sclerosing agent to stay in the lesion longer with greater effect without being washed away (as in higher flow lesions). Sclerotherapy has an average of 2 treatments, with most patients requiring 1 to 4 sessions separated by 3 to 12 months. Swelling, firmness, and pain are common and last several days. Mucosal or superficial VMs can ulcerate and should be treated with local wound care and an antibiotic with monitoring for subsequent scarring. Other potential complications include peripheral nerve palsy, deep venous thrombosis, and muscle contracture.
Surgery
Surgical treatment of VMs will vary. Some lesions are fairly well defined in the neck and easily separated from surrounding tissue ( Fig. 2 ). Others have poorly defined borders and invade normal tissue, leading to a difficult surgery with risk of blood loss. They are generally approached like other head and neck masses, but excision of the involved skin or mucosa needs to be considered when appropriate.
Larger VMs are more challenging, including parotid and masseteric sites. These can be intricately associated with nerves and critical structures. Bipolar nonstick cautery and thrombin-soaked Gelfoam can help to prevent bleeding and protect adjacent nerve structures. Dissection is carried out with caution because the thin-walled ectatic veins will bleed easily. Nonstick bipolar tips (at 25–30 W) can control tedious surface bleeding.
In particular, large VMs involving the parotid should be approached with caution. These will have direct and indirect connections to the draining dural system and internal jugular vein, often intricately wrapping around the facial nerve in the process. Although these are venous, they will bleed briskly with risk to the nerve and for major blood loss. Dissection should proceed in the superior to inferior direction to prevent engorgement of the lesion after removing outflowing veins. Bipolar can be used along the surface of the lesion, with multiple ties to contain the VM. Reduction, rather than complete resection, is the goal, and there may come a point (usually many hours into the case), where the patient is better served to contain bleeding and stop the case rather than risk further blood loss or facial palsy.
Laser therapy
Mucosal and aerodigestive VM are amenable to Nd:YAG laser therapy, which has a wavelength of 1064 nm and is suited for the purple color of VM. For airway lesions, the laser fiber is taped to a rigid telescope and the laser applied at 18 to 20 W in a polka-dot pattern, taking care not to connect the dots to prevent mucosal scarring and bleeding ( Fig. 3 ). Placing the patient in Trendelenburg position may help make the lesions more obvious. A similar technique can be applied to the oral mucosa, with the fiber threaded through a noncontact laser handpiece (or Fraser suction) at a higher energy of 25 to 30 W. An underwater technique with less thermal damage has been described in which the oral cavity is filled with cold saline during laser application. The Nd:YAG laser can also be used for less accessible VMs, such as in the deep tongue or neck, as an interstitial laser therapy. The fiber is passed through a 14 g needle and into the VM, taking care to stay at least 0.5 cm from any nerve to prevent damage. In this way, selective photothermolysis of the VM can shrink the deep lesion.
