History and Physical Examination
Hemangiomas
Hemangiomas are usually noted in the first 2 weeks of life, though the exact timing depends on multiple factors, including the location of the lesion. Most start as a small cutaneous mark that resembles a bruise or red macular lesion before progressing to a more prominent lesion. Most (60-80%) develop on the craniofacial region, followed by the trunk and extremities. Whereas most cutaneous lesions are isolated, approximately 20% are multiple (see the images below). Such multiple lesions should alert the clinician to the possibility of visceral organ involvement, as is often the case. [13, 28]
Clinical image of 2-month-old boy with diffuse hemangiomatosis who presented with multiple cutaneous as well as hepatic hemangiomas.
The presentation and course are quite variable, depending on the location and depth of the lesion. For example, deeper cutaneous lesions may lack a typical “strawberry” appearance but may instead appear darker with a bluish hue. During the proliferative phase, frequent assessment and documentation are necessary because progression is unpredictable. A small lesion may rapidly blossom into a very large one or may take a much more indolent course. Usually, lesions plateau by age 1 year, marking the end of the proliferative phase.
During the involuting phase, the growth of the lesion slows and parallels the growth rate of the child. As the lesion matures and begins to regress, it usually lightens in color, often adopting a grayish hue, and becomes softer to palpation. By age 5-7 years, the final traces of color usually disappear, leaving either very little evidence of the lesion or an atrophic fibrofatty patch with telangiectatic vessels.
In approximately 50% of children, the site of the lesion matures to a normal texture and consistency. However, it is not currently possible to predict the course that a particular lesion may take; no reliable clinical factors predict final cosmetic outcome. In general, facial hemangiomas may lead to long-term cosmetic defects, in that the lesion may destroy hair follicles and may produce mass effects on the facial skeleton, nose, or jaw. [6] Hemangiomas complicated by chronic ulceration may also leave prominent scars. [29]
Although most hemangiomas resolve without serious long-term complications and require only appropriate diagnosis and expectant management, approximately 20% of them become clinically significant and require more in-depth workup and treatment (see the images below). [13]
Preoperative image of 1-year-old boy with forehead hemangioma who required surgical resection because of previous episodes of massive bleeding after trauma. Initially, tissue expander was placed under scalp and progressively distended with water to achieve enough native tissue for defect coverage. Lesion was plastified before resection to reduce risk of operative bleeding.
Postoperative image of previously mentioned patient with forehead hemangioma after surgical removal of hemangioma. Primary closure was achieved satisfactorily after extraction of tissue expander. Since dissection had been considerable, drain was left in place to avoid postoperative fluid collection, avoiding risk of palpebral and facial edema.
Specifically, lesions that involve the head and neck deserve particular attention. Dermatomally distributed facial lesions, in particular, may indicate the presence of PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta, cardiac defects, and eye anomalies). These warrant multiorgan assesment and radiographic evaluation (eg, facial magnetic resonance imaging [MRI]). [30]
Similarly, the presence of numerous hemangiomas (so-called disseminated hemangiomas or hemangiomatosis) may indicate the presence of visceral lesions involving the liver, lung, gastrointestinal (GI) tract, or brain. Screening with ultrasonography (US) or MRI should be considered in these patients.
Other lesions that warrant early attention are those that involve the airway (usually heralded by a cutaneous cervical lesion), those that involve the eye and related structures, and those in the lumbosacral region, the last of which may indicate the presence of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies) [8] .
In neonates with these lesions, prompt evaluation by appropriate specialists (pediatric surgeon/ophthalmologist) should be sought; therapeutic interventions (eg, tracheostomy) may be required. In the setting of lumbosacral disease, US or MRI might be indicated to rule out underlying spinal cord defects.
One of the more problematic complications of cutaneous hemangiomas remains ulceration of the skin, affecting approximately 5% of infants. [31] Ulceration most commonly arises in lesions that involve the extremities, lips, or perineum. Most ulcerative lesions can be treated with local wound care. Laser treatment and even resection may be considered if the ulceration is extensive.
Although most vascular tumors encountered in clinical practice are hemangiomas, other, rarer lesions (eg, pyogenic granuloma and kaposiform hemangioendothelioma) should also be considered when a neonate with a vascular lesion is evaluated. It is essential to identify these rare tumors at an early stage; treatment of the lesion and possible associated syndromes (eg, Kasabach-Merritt syndrome) may be required.
Venous malformations
Venous malformations, the most common form of vascular malformation, are composed of thin-walled, endothelial-lined, dilated, spongelike channels, with a notable absence of smooth muscle. They are typically blue-gray in color and compressible and grow slowly over time (usually growing as the child grows). Lesions may be small and varicose or large and extensive, involving the extremities, face, or trunk. Visceral involvement may occur. Cutaneous lesions may visibly expand with a Valsalva maneuver (a potential diagnostic aid during physical examination).
Phlebothrombosis is a common complication, resulting in pain, swelling, and stiffness of joints and muscles. The location and size of a specific lesion dictate the extent of clinical pathology. In general, the mass effect of a growing lesion leads to local symptoms. For example, craniofacial lesions may cause obstructive ocular and aerodigestive complications (eg, exophthalmia and sleep apnea, respectively). Lesions in the skin and soft tissue may cause extensive disfigurement. Deeper lesions that involve muscle or bone may eventually lead to a loss of musculoskeletal function and even pathologic fractures due to bony destruction.
Workup of venous malformations should include coagulation studies, in that extensive venous malformations have also been associated with coagulopathies. Computed tomography (CT) angiography (CTA) or MRI may also be required to determine the extent of involvement of a venous malformation. (See the image below.) These noninvasive studies have displaced the former standard, venography.
Indications for treatment of these lesions include cosmetic disfigurement, pain, and functional impairment. The mainstay of therapy remains a combination of compression, sclerotherapy, and surgical resection.
Capillary malformations
Capillary malformations (also known as port-wine stains) can occur anywhere on the body, with a prevalence of 0.3% at birth. [32] These lesions often manifest as discolorations of the neonatal skin and may darken over time, accompanied by a nodular expansion. Capillary malformations on the face may follow a dermatomal distribution, though more than half cross dermatomes or occur bilaterally. [33] Lesions may involve the mucosal membranes and may cause significant distortion of the face with bony overgrowth and gingival hyperplasia.
The presence of capillary malformations should alert the physician to the possibility of anatomically associated central nervous system (CNS) defects, such as ectopic meninges, AVMs of the spinal cord (Cobb syndrome), lipomeningocele, tethered cord, or spinal dysraphism. Lumbosacral lesions may also be accompanied by spinal cord abnormalities and neurogenic bladder dysfunction. [34, 35, 36]
Sturge-Weber syndrome must be considered in the presence of facial capillary malformations. This syndrome is characterized by facial capillary malformations and ipsilateral ocular and leptomeningeal vascular anomalies. [33]
Leptomeningeal vascular anomalies may be of venous, capillary, or mixed types and can cause various neurologic symptoms, such as seizures and hemiplegia. Choroidal anomalies are also often present, necessitating frequent ophthalmologic evaluation.
Lymphatic malformations
Lymphatic malformations are usually noted at birth or within the first few years of life, and may manifest in numerous forms. These lesions may be isolated, may encompass a large anatomic area, and may involve multiple organs (see the image below). Their classification is based on radiologic and histologic evaluation and resultant grouping into microcystic, macrocystic, and combined forms. Historically, these lesions have commonly been referred to as lymphangiomas and cystic hygromas; however, these terms are now regarded as outdated and should no longer be used by experts in the field. [6]
Clinical image of 3-year-old girl with large macrocystic lymphatic malformation on left neck.
Lymphatic malformations may occur in any location, but are typically found in the cervicofacial region (see the images below), mediastinum, chest, axilla, perineum, buttock, and retroperineum. [37] The lesions can range from small spongelike blemishes, to large bulky masses that cause severe disfigurement. The overlying skin may appear normal, may exhibit bluish discoloration, or, in the case of dermal involvement, may be riddled with tiny dark-red vesicles caused by intravesicular bleeding.
Clinical image of newborn with large macrocystic lymphatic malformation and acute inflammation after upper respiratory tract infection.
Clinical image of 2-day-old male with massive mixed lymphatic malformation on left neck. Surgical treatment was chosen because of risk of airway compromise.
Sagittal T2-weighted MRI image of previously mentioned 3-year-old girl with large macrocystic lymphatic malformation on left neck.
A significant complication of lymphatic malformations remains intralesional hemorrhage, which can affect as many as 13% of cases. [38] This is often heralded by rapid growth of the lesion, predisposing the area to infection. If bleeding occurs, antibiotic therapy should be started immediately. [6] However, prophylactic treatment with antibiotics is not currently recommended.
Notably, faciocervical lymphatic malformations may result in significant ophthalmologic symptoms, dental problems, or airway compromise, the last of which may necessitate tracheostomy. [39, 40]
Management of lymphatic malformations centers on the prevention of bleeding, infection, and mass effect. The mainstays of treatment are sclerotherapy and surgical excision. (See the images below.)
Surgical photograph during resection of axillary macrocystic lymphatic malformation that did not respond to sclerotherapy. Topographic anatomy of lesion required simultaneous two-sided (cervical and axillary) approach. Extreme care during axillary neurovascular structures is paramount for adequate postoperative functional outcome.
Postoperative image of aforementioned patient with axillary macrocystic lymphatic malformation.
Coronal CT image of abdomen in 2-year-old patient with intestinal macrocystic lymphatic malformation. Surgical treatment was chosen on basis of difficult percutaneous image-guided approach and high risk of complications (intestinal ischemia/perforation).
Surgical specimen of previously mentioned patient with intestinal macrocystic lymphatic malformation that required intestinal resection and primary anastomosis.
Arteriovenous malformations
AVMs are usually diagnosed at birth and may be mistaken for other types of malformations (eg, capillary malformations). As their name implies, AVMs consist of arteriovenous structures that allow shunting to occur. The lesions are defined by the presence of feeding and draining vessels. Consequently, the natural history of the lesion is one of progression. [41, 42, 43]
AVMs may first be evident as small discolored areas on the skin and progress at different rates depending on their flow (ie, fast vs slow). Fast-flow lesions typically evolve quickly, resulting in worsening erythema, bruits, and thrills. Trauma may exacerbate the lesions, and rapid growth may be observed during puberty. [6] As the arteriovenous shunting worsens, local ischemic signs may manifest (ulceration, pain, bleeding). Extensive lesions may lead to high-output cardiac failure as the heart attempts to maintain perfusion in the presence of a large arteriovenous shunt.
Schobinger summarized the natural history of congenital AVMs as evolving through four distinct clinical stages, as follows [44] :
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Stage 1 (quiescence) - This is characterized by a pink violaceous mark and the presence of an arteriovenous shunt detectable by echo Doppler US
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Stage 2 (expansion) - As in stage 1, but clinically pulsatile, with obvious presence of tortuous vessels
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Stage 3 (destruction) - As in stage 2, along with damage to surrounding tissue (eg, dystrophic skin changes), ulceration, bleeding, and continuous pain
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Stage 4 (decompensation) - Similar to stage 3, but associated with cardiac failure due to voluminous shunting
AVMs can occur almost anywhere in the body. Intracranial lesions are most common, followed by head and neck, extremities (lower more often than upper), trunk, and visceral. Among AVMs that involve the extremities, those associated with fistulous shunts of the femoral vessels are most common. Many investigators choose to reserve the term AVF for the acquired traumatic variant involving a solitary fistula.
Patients with an AVM involving the brain may have a dramatic presentation, including neurologic symptoms. Pelvic AVMs are usually extensive and manifest as vaginal bleeding or symptoms related to compression of other pelvic organs. Congenital visceral fistulas can involve the lung, kidney, and alimentary tract. Alimentary tract AVMs are usually part of congenital telangiectatic syndromes and often present with GI bleeding . [45, 46]
Multimodality imaging with US (Doppler), CTA, magnetic resonance angiography (MRA), and even angiography may be required to fully characterize a lesion. Because many AVMs are not localized and infiltrate deeply into several tissue planes, such imaging may be necessary to determine the best course of treatment. [47] Treatment is individualized on a case-by-case basis, taking into consideration the location and extent of the lesion. A multidisciplinary approach is required, with embolization, sclerotherapy, and surgical resection as single or combined treatment alternatives (see the images below).
Clinical picture of 5-year-old boy with arteriovenous vascular malformation of tongue. He underwent attempted surgical correction at local hospital, where surgeon attemtped to ligate primary inflow artery but instead ligated venous drainage vessel, provoking sudden and intense outflow obstruction with rapid lesion enlargement, tongue protrusion, and mucosal ischemia.
Preoperative image of aforementioned patient with arteriovenous vascular malformation of tongue, who initially received tracheostomy for airway control and feeding gastrostomy. Note severe tongue swelling and enlargement and poor mucosal perfusion with ischemia and necrosis.
Selective lingual artery angiography of aforementioned patient with arteriovenous vascular malformation of tongue demonstrates large, diffuse lingual arteriovenous malformation occupying entire tongue. At hemodynamics suite, with patient under general anesthesia, catheter was introduced through femoral artery and into external carotid artery, and micro-catheter was then passed through former into lingual artery. Under fluoroscopy with image substraction and contrast roadmapping, supraselective lingual artery branches were embolized.
Preoperative postembolization radiologic image of aforementioned patient with arteriovenous vascular malformation of tongue demonstrates important reduction of blood flow to malformation.
Combined malformations
Lesions with multiple combinations of vascular elements are grouped into this category. Capillary-lymphaticovenous malformations (seen in Klippel-Trenaunay syndrome) often involve the lower extremities, resulting in disfiguring hypertrophy of the involved limb (see the images below). Functionality of the limb may also be affected, requiring surgical debulking, if appropriate. The syndrome is more common in females.
Severe mixed vascular malformation of right leg on 5-day-old boy, with massive overgrowth, port-wine stains, and diffuse venolymphatic malformation.
Other combined malformations include those that manifest in individuals with Sturge-Weber syndrome. Limbs are typically affected and exhibit enlargement with skin changes. Treatment may include expectant management and embolization, if appropriate.
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Disfiguring nasal hemangioma at proliferating phase on 2-year-old girl.
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Deep and superficial hemangioma of parotid region in 4-month-old girl.
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Clinical image of 9-year-old boy with axillary mixed malformation. Note increased volume, mostly due to lymphatic malformation, venous ectasia seen as cutaneous bluish varicose-looking venous malformation, and reddish port-wine stain due to capillary malformation.
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Preoperative image of 2-year-old boy who underwent plastification of right-thoracic-wall arteriovenous malformation.
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Surgical removal of AVM of same child described in previous image. Note how malformation can be resected en bloc without bleeding due to previous plastification.
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Clinical image of 10-year-old boy with CLOVES syndrome (congenital lipomatous overgrowth syndrome with vascular anomalies, epidermal nevi, and scoliosis). Severe overgrowth on thorax, abdomen, and extremities, with multiple lipomas.
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Clinical image of previously mentioned patient with CLOVES syndrome, from back. Scoliosis and severe left buttock enlargement are evident.
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Closer clinical image of same patient with CLOVES syndrome, where lymphatic cutaneous infiltrate is seen as red confluent macules on right hemiabdomen.
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Clinical image of 2-month-old boy with large hamartoma of right clavicular-axillary-thoracic region due to Proteus syndrome.
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Surgical image of aforementioned patient with Proteus syndrome after removal of large axillary hamartoma.
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Postoperative appearance of same patient with Proteus syndrome after soft-tissue reconstruction.
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Patient who developed skin necrosis as a complication of sclerosis of a nontarget organ after endovascular injection of a sclerosing agent for a venous malformation.
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Clinical image of 9-year-old girl presenting with cutaneous ulcer on right buttock as complication after endovascular sclerotherapy for venous malformation. Sclerosis of nontarget organ.
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Newborn with massive macrocystic lymphatic malformation of left neck.
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Preoperative image of 1-year-old boy with forehead hemangioma who required surgical resection because of previous episodes of massive bleeding after trauma. Initially, tissue expander was placed under scalp and progressively distended with water to achieve enough native tissue for defect coverage. Lesion was plastified before resection to reduce risk of operative bleeding.
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Postoperative image of previously mentioned patient with forehead hemangioma after surgical removal of hemangioma. Primary closure was achieved satisfactorily after extraction of tissue expander. Since dissection had been considerable, drain was left in place to avoid postoperative fluid collection, avoiding risk of palpebral and facial edema.
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Clinical appearance of same patient with hemangioma at follow-up, aged 5 years.
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Clinical image of 2-month-old boy with diffuse hemangiomatosis who presented with multiple cutaneous as well as hepatic hemangiomas.
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Hemangioma of arm in aforementioned patient with diffuse hemangiomatosis.
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Clinical image of right hemifacial mixed (venous and lymphatic) malformation in 7-year-old girl.
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Clinical image of male newborn with Klippel-Trenaunay syndrome. Note left leg hypertrophy, with evident cutaneous venous lesions.
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Clinical image of 7-year-old girl with Klippel-Trenaunay syndrome. Note left leg hypertrophy, with evident cutaneous venous lesions.
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Clinical image of 3-year-old boy who underwent percutaneous sclerotherapy with absolute alcohol for left-cheek venous malformation. Patient had very severe reaction to sclerosing agent and developed cutaneous lesion that scarred and retracted over time.
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Clinical image of 14-year-old girl with Maffucci syndrome, comprising diffuse venous malformations and enchondromas. Venous malformations are readily visible on lips.
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Clinical image of aforementioned patient with Maffucci syndrome demonstrating multiple enchondromas of wrist and fingers of left hand, combined with vascular malformations on distal phalanx of fifth finger.
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Postoperative image of same patient with Maffucci syndrome after surgical resection of three venous malformations of lips.
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Clinical picture of same patient with Maffucci syndrome with diffuse venous malformations on left foot.
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CT angiogram of patient with Klippel-Trenaunay syndrome demonstrating pathognomonic vein of Servelle. Hypoplasia of deep venous system of lower extremities causes dilatation of saphenous vein.
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3D CT reconstruction of lower extremities in a patient with Klippel-Trenaunay syndrome. Hypoplasia of deep venous system of leg with subsequent tortuous dilatation of superficial venous system is evident.
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Surgical photograph during resection of axillary macrocystic lymphatic malformation that did not respond to sclerotherapy. Topographic anatomy of lesion required simultaneous two-sided (cervical and axillary) approach. Extreme care during axillary neurovascular structures is paramount for adequate postoperative functional outcome.
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Postoperative image of aforementioned patient with axillary macrocystic lymphatic malformation.
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Coronal CT image of abdomen in 2-year-old patient with intestinal macrocystic lymphatic malformation. Surgical treatment was chosen on basis of difficult percutaneous image-guided approach and high risk of complications (intestinal ischemia/perforation).
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Surgical specimen of previously mentioned patient with intestinal macrocystic lymphatic malformation that required intestinal resection and primary anastomosis.
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Clinical image of 3-year-old girl with large macrocystic lymphatic malformation on left neck.
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Clinical image of newborn with large macrocystic lymphatic malformation and acute inflammation after upper respiratory tract infection.
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Clinical image of 2-day-old male with massive mixed lymphatic malformation on left neck. Surgical treatment was chosen because of risk of airway compromise.
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Sagittal T2-weighted MRI image of previously mentioned 3-year-old girl with large macrocystic lymphatic malformation on left neck.
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Hemihypertrophy of right lower extremity on 2-month-old boy.
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Severe mixed vascular malformation of right leg on 5-day-old boy, with massive overgrowth, port-wine stains, and diffuse venolymphatic malformation.
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Newborn boy with Parks-Weber syndrome. Note diffuse left-lower-leg hypertrophy with larger overgrowth; lower abdominal and diffuse leg capillary malformation; tortuous venous dilatation of superficial system on left leg; and skin ischemia with necrosis and bleeding due to arteriovenous malformation.
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Newborn boy with Parks-Weber syndrome. Note severe overgrowth of right leg, with massive and diffuse mixed malformations. Port-wine stains represent capillary malformations, while arterial blood sequestration from arteriovenous malformation creates skin ischemia and necrosis.
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Clinical picture of right hand of 5-day-old boy with Parks-Weber syndrome. Note hypertrophy of fourth finger and port-wine stain (capillary malformation) on hand distal to crease.
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Clinical picture of 5-year-old boy with arteriovenous vascular malformation of tongue. He underwent attempted surgical correction at local hospital, where surgeon attemtped to ligate primary inflow artery but instead ligated venous drainage vessel, provoking sudden and intense outflow obstruction with rapid lesion enlargement, tongue protrusion, and mucosal ischemia.
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Preoperative image of aforementioned patient with arteriovenous vascular malformation of tongue, who initially received tracheostomy for airway control and feeding gastrostomy. Note severe tongue swelling and enlargement and poor mucosal perfusion with ischemia and necrosis.
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Selective lingual artery angiography of aforementioned patient with arteriovenous vascular malformation of tongue demonstrates large, diffuse lingual arteriovenous malformation occupying entire tongue. At hemodynamics suite, with patient under general anesthesia, catheter was introduced through femoral artery and into external carotid artery, and micro-catheter was then passed through former into lingual artery. Under fluoroscopy with image substraction and contrast roadmapping, supraselective lingual artery branches were embolized.
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Preoperative postembolization radiologic image of aforementioned patient with arteriovenous vascular malformation of tongue demonstrates important reduction of blood flow to malformation.
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3D color reconstruction CT angiography depicts upper-lip venous malformation.
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3D color reconstruction CT angiography depicts left-lower-extremity arteriovenous malformation.
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Operative image of 6-year-old boy during postplastification glossectomy for lingual venous malformation.
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Postoperative image after partial anterior glossectomy on previously mentioned 6-year-old boy.
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Preoperative image of previously mentioned 6-year-old boy with marking of anterior partial glossectomy after plastification for treatment of lingual venous malformation.
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Postoperative image after anterior two thirds glossectomy after embolization of lingual arteriovenous malformation.
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Surgical specimen from anterior partial glossectomy after plastification for lingual venous malformation.
