Vascular anomalies

Vascular anomalies are vascular lesions that are present from childhood. They are classified into tumours or malformations based on clinical and histological features. Benign infantile haemangiomas are the most common vascular tumour and have a predictable self-limiting course. Rarer vascular tumours exist, and some may cause platelet consumption. Management is usually conservative, with active treatment reserved for functional or cosmetic complications (ulceration, or obstruction and distortion of vital structures). Oral propranolol is useful for troublesome lesions.Vascular malformations are structural anomalies of vascular morphogenesis present at birth without cellular proliferation that, in general, grow with the patient. They are sub-classified by vessel type as ‘low flow’ (capillary, lymphatic and venous) and ‘high flow’ (arteriovenous) or lesions with a combination of vessel type. They become problematic under certain circumstances, usually puberty and also pregnancy. The most troublesome are extensive lesions, especially venous and arteriovenous. Their effects may be cosmetic, those of a space-occupying lesion, infection, bleeding, pain or coagulopathy. Venous lesions cause consumptive coagulopathy, sometimes with life-threatening risks. Treatment options include medication and symptom control with antibiotics, analgesia, control of menses, compression garments and intervention with laser (capillary type), sclerotherapy, embolization and/or surgical excision. Patients with complex lesions, are best managed by a multidisciplinary team and all surgical sub-specialties may be involved.     

Vascular anomalies

Vascular anomalies are vascular lesions, present from childhood. They are classified into tumours or malformations based on clinical and histological features. Benign infantile haemangiomas are the most common vascular tumour and have a predictable self-limiting course. Management is conservative, with active treatment reserved for the presence of functional or cosmetic complications (ulceration, obstruction and distortion of vital structures). Oral propranolol is useful for troublesome lesions. Rarer tumours may cause platelet consumption. Vascular malformations are structural anomalies of vascular morphogenesis, present at birth, without cellular proliferation that, in general, grow with the patient. They are subclassified by vessel type as low flow (capillary, lymphatic and venous) and high flow (arteriovenous), or lesions with combinations of vessel types. They may become problematic at puberty or during pregnancy. Extensive venous and arteriovenous lesions are the most troublesome. Their effects may be cosmetic, or those of a space-occupying lesion: infection, bleeding, pain or coagulopathy. Venous lesions cause consumptive coagulopathy, sometimes with life threatening risks. Treatment options include medication and symptomatic control with antibiotics, analgesia, control of menses, compression garments, laser intervention, interventional radiology (sclerotherapy and embolization) and surgery. Patients with complex lesions, are best managed by a multidisciplinary team.     

Congenital vascular anomalies of the head and neck: interventional management in children

Congenital vascular anomalies are common lesions with variable natural history, clinical problems and management. This study analysed the data from 166 patients with congenital vascular anomalies (haemangiomas, capillary vascular malformations, lymphatic malformations, venous malformations, and arteriovenous malformations). The lesions were most commonly located on the cheek and eyelids. The main indication for intervention was appearance (60.8%). Interventional radiology, steroid and laser treatment and surgery were assessed. The results, complications and outcome are discussed.     

Vascular anomalies of the children's hand

Vascular anomalies are common on the hand of children. There are two types of vascular anomalies: the vascular tumours and the vascular malformations. The most frequent vascular tumour is infantile haemangioma. The vascular malformations could be predominantly venous, lymphatic, capillary or arteriovenous. Combined vascular malformations, often syndromic, must be searched for. Diagnosis is sometimes difficult. It is based on clinical history, aspect, evolution and radiological examinations (color-Doppler ultrasound and MRI). Treatment is often a combination of medical and surgical approaches performed by a multidisciplinary team.     

Les anomalies vasculaires de la main de l’enfant

Vascular anomalies are common on the hand of children. There are two types of vascular anomalies: the vascular tumours and the vascular malformations. The most frequent vascular tumour is infantile haemangioma. The vascular malformations could be predominantly venous, lymphatic, capillary or arteriovenous. Combined vascular malformations, often syndromic, must be searched for. Diagnosis is sometimes difficult. It is based on clinical history, aspect, evolution and radiological examinations (color-Doppler ultrasound and MRI). Treatment is often a combination of medical and surgical approaches performed by a multidisciplinary team.     

Vascular tumours and malformations, classification, pathology and imaging

The understanding of vascular anomalies (vascular tumours and vascular malformations) was obscured, for a long time, by confusion and uncertainties in nosology and terminology. The International Society for the Study of Vascular Anomalies (ISSVA) recently adopted a classification scheme, clearly separating vascular tumours (hemangiomas of different types) which result from active cell proliferation, from vascular malformations, which are inborn defects in vascular morphogenesis. These two types of lesions have different clinical behaviour and require different diagnostic and therapeutic strategies. The most frequent vascular tumour is infantile hemangioma. Its clinical aspects and evolution are well-known. New data have been recently obtained concerning the phenotype of tumour cells and its histogenesis. Of the numerous new vascular tumours, which have been recently described, only the congenital hemangiomas, the vascular tumours associated with the Maffucci syndrome and the tumours that may be complicated by a profound thrombocytopenia (Kasabach and Merritt phenomenon) will be considered. Vascular malformations can be classified according to the vessel(s) types they are composed of. A classification table is presented, separating the malformations of vascular trunks from tissular malformations which are more intimately embedded in the surrounding tissues. The different syndromes associated with vascular anomalies take also place in this table. The clinical, imaging and histological aspects of the most frequent malformations (capillary, venous, lymphatic and arteriovenous) are presented. This classification intend to clarify the nosology and terminology of the complex field of vascular tumours and malformation and to offer a common language to the different physicians and specialists contributing, preferably with a interdisciplinary approach, to the diagnosis and treatment of these difficult lesions.     

Instillation of Alcohol into Venous Malformations of the Head and Neck

Vascular malformations are errors of vascular morphogenesis, and must be differentiated from vascular tumours such as haemangiomas, because the natural history and treatment are different. Vascular malformations may be arterio-venous with high blood flow, or venous with low blood flow. Venous vascular malformations grow among soft tissues and are difficult to delineate at operation. Direct puncture under fluoroscopy with injection of contrast medium is one method of visualising the cavities of a venous malformation. Instillation of concentrated alcohol directly into such cavities is a possible treatment. Forty-four patients with venous malformations of the head or neck have been treated since 1984, of whom 31 responded to a follow up questionnaire. Twenty-three responded to injection of ethanol alone, and eight also required reconstructive surgery; 26 of the 31 described the result as “good” or “excellent” (84%).     

GLUT-1: an extra diagnostic tool to differentiate between haemangiomas and vascular malformations.

The differential diagnosis between juvenile haemangiomas, vascular malformations, pyogenic granulomas and normally proliferative endothelium (granulation tissue) on the basis of histology alone is sometimes difficult. This is important because haemangiomas, are self-limiting and vascular malformations are not. We report our experience of using the immunohistochemical marker GLUT-1 to distinguish haemangiomas from vascular malformations following the initial report by North and Colleagues (1998). We studied a total of 50 specimens from patients with vascular anomalies, and found that GLUT-1 reactivity was positive in 18 out of 19 juvenile haemangiomas, negative in two out of two noninvoluting congenital haemangiomas (NICH) and negative in 29 out of 29 vascular malformations, that included capillary malformations, lymphatic malformations, venous malformations and arteriovenous malformations (95% sensitivity, 100% specificity). Pyogenic granulomas (n = 4) and granulation tissue samples (n = 4) were used as negative controls. Placenta tissue was used as positive control. GLUT-1 accurately distinguishes haemangiomas from vascular malformations, and as a result from this work, we use this technique in routine histopathological differentiation of vascular anomalies.     

Classification, diagnosis, and interventional radiologic management of vascular malformations

Vascular anomalies are comprised of either hemangiomas or vascular malformations.Low-flow vascular malformations can be divided into capillary, venous, and lymphatic types and are usually present at birth, undergo pari passu growth, and produce symptoms related to mass effect or stasis. High-flow malformations are comprised pre-dominantly of arteriovenous malformations that follow a more aggressive clinical course of hyperemia, adjacent mass effect, steal phenomenon, tissue destruction, and ultimately high output failure. Ultrasound, CT, nuclear medicine, angiography, and particularly MRI have greatly enhanced diagnostic accuracy and provide detailed information for percutaneous and surgical treatment planning and an objective means of following therapeutic efficacy. Interventional radiologic percutaneous sclerotherapy for low-flow lesions and embolosclerotherapy for high-flow lesions with or without adjunctive surgical intervention have become the mainstay of therapy.     

Intramuscular cavernous haemangioma of the triceps

Haemangiomas are one of the most common soft tissue tumours comprising 7% of all benign tumours. Vascular malformations are often confused with haemangiomas. The etiology is unknown. They are common in infancy and childhood and females are more commonly affected. These tumours may be superficial or deep, and deeply seated lesions, are difficult to diagnose clinically and hence require radiographic assessment. Deep-seated haemangiomas are usually intramuscular, although intra-articular synovial haemangiomas also occur. The commonest anatomic site is the lower limb.Despite their vascular origin, haemangiomas do not metastasize or undergo malignant transformation. Many treatment modalities for the symptomatic haemangioma are available but surgical excision is the preferred treatment. We present an unusual case of a dumb-bell intramuscular haemangioma involving the triceps and extending into the cubital tunnel of the elbow, distinguish between haemangiomas and vascular malformations and emphasize the importance of surgical technique in ensuring ulnar nerve safety.     

Bildgebung vaskulärer Malformationen mit Magnetresonanztomographie

Vascular malformations are lesions with variable characteristics. Finding the correct diagnosis and therapy can be challenging. In this context it is fundamental to use the correct nomenclature. Magnetic resonance imaging (MRI) is the most suitable modality to correctly classify a vascular malformation as MRI accurately demonstrates both the extent of the lesion and its anatomical relationship to adjacent structures and tissues. Furthermore, MRI facilitates functional and hemodynamic vessel analysis including dynamic time-resolved gadolinium contrast material-enhanced three dimensional MR angiography. This is essential to differentiate vascular malformations with low flow, e.g. venous, lymphatic, capillary, or mixed lesions, from lesions with high flow, e.g. arteriovenous malformations (AVM) or arteriovenous fistulas (AVF). The MRI technique forms a solid foundation for both diagnostic imaging and therapy planning of vascular malformations.     

Vascular malformations of the central nervous system: A morphological overview

Summary Vascular malformations of the central nervous system (C.N.S.) are classified by size, location, and morphologic type, distinguishing a) capillary telangiectasias, b) cavernous malformations, c) venous angiomas, d) arteriovenous malformations (AVMs) including varix of the great vein of Galen, and other vascular malformations (e.g. Sturge-Weber syndrome). The morphology and predominant location pattern of the different types of vascular malformations in the brain and spinal cord, and their embryology are reviewed. In the brain and its coverings, all types mainly AVMs and venous angiomas do occur, representing 5–9% of all intracranial space-occupying lesions and 20–40% of the sources of surgically treated intracranial hemorrhages. 50–80% of the angiomas are located in the cerebral hemispheres, 10–18% in central brain areas (basal ganglia, internal capsule, choroid plexus), and 10–30% in the posterior fossa. The major types of cerebral vascular malformations are described with reference to their anatomical features, location, chief arterial and venous supply, and prominent complications. Spinal vascular malformations, accounting for 3 to 12% of spinal space-occupying lesions, include vertebral, extradural, dural, subpial and intramedullary angiomas which occur as isolated or complex vascular anomalies and may involve various covering layers at the same level. The preferential occurrence of angiomas on the dorsal surface of the cord and in the caudal regions is related to the embryologic development of spinal vasculature. Frequent association of spinal angiomas (20–25%) with other vascular anomalies and dysplasias emphasizes their hamartomatous nature and developmental origin. Spinal angiomas include a) capillary telangiectasias with extra- or intradural and, rarely, intramedullary location, b) cavernomas, mainly arising in vertebral bodies, c) venous angiomas, mainly located in vertebral bodies and in the extradural space, and c) AVMs constituting the commonest type, that may affect both the pial and radicular vessels and can penetrate into the cord. They present as simple AV fistulas, cirsoid angiomas with localized vascular plexuses and large complex convolutions (juvenile type). The complications of spinal angiomas include subarachnoid hemorrhage, rare epidural hematoma, hematomyelia, compression lesions of the cord and roots, and ischemic changes causing chronic progressive radiculomyelopathy, previously referred to as Foix-Alajouanine syndrome. Chronic damage to the cord and spinal roots results from pressure effects, thrombosis of the abnormal vessels, disorders of venous drainage, and steal phenomena related to the vascular anomalies.     

Hereditary vascular malformations: classification, symptoms, diagnostics and prognosis

The understanding of hereditary vascular anomalies was hampered for a long time by unclear und unspecific terminology. Today, the classification of the International Society for the Study of Vascular Anomalies (ISSVA) differentiates between vascular tumours (mostly infantile haemangioma) with active endothelial proliferation and regression and vascular malformations (VM), which are defects of the vascular morphogenesis and are distinguished in predominantly venous, arterial, capillary, lymphatic, arteriovenous or combined VM. Symptoms are pain, swelling and restricted movement, accompanied by skin signs like dys-plastic veins and capillary VM (naevus flammeus). Thrombophlebitis and chronic venous insufficiency are related to venous VM. Arteriovenous VM are progressive and can cause ischaemic necroses, in rare cases even a high-output cardiac fail-ure. Lymphatic VM lead to localised swelling, in the long run often to recurrent erysipelas and lymphorroea. Primary imaging is provided by -ul-trasound including flow measurements. Mor-phol-ogy and organ involvement is best delineated by magnetic resonance imaging. Phlebography is used to image deep venous system anomalies and is always accompanied by varicography of the dysplastic parts of the venous VM. Digital subtraction angiography is performed to demon-strate the flow pattern in feeding arteries, the nidus and the drainage veins of arteriovenous VM. Besides size and localisation the prognosis of the patients is determined by the pressure (the high-er the pressure, the poorer the prognosis) and the flow rate (the higher the flow rate, the poorer the prognosis) in the VM. Diagnosis and treatment of these rare diseases are best performed in special-ised, interdisciplinary centres.     

Vaskuläre Malformationen

Vascular malformations are localized defects of vascular morphogenesis. Contrary to infantile hemangiomas, which are vascular tumors and go through a phase of proliferation followed by regression, they never regress. They grow commensurately with the patient and may become symptomatic at adolescence or in young adults. Trigger effects, such as trauma or hormonal influences may stimulate growth and symptoms. Clinical indications for vascular malformations at the time of birth are bluish discolorations of the skin (e.g. venous malformations) or cherry-red spots (e.g. capillary malformations or combined malformations). Children may show signs of asymmetric increased growth of extremities or increased girth on the affected side, or pain resulting from coagulation effects in truncular (thrombosis of the pelvic veins in atresia of caval veins) or extratruncular (thrombophlebitis in venous malformations) malformations. A buzzing sensation during light contact in combination with brownish skin discolorations (Stewart-Bluefarb syndrome), localized enhanced skin temperature and dilated subcutaneous draining veins are signs of a high-flow arteriovenous malformation (AVM). Large AVMs may lead to high-output cardiac failure in children and young adults. Large VMs may show localized intravascular coagulation with high D-dimer levels and low platelet counts. After surgery, pregnancy or trauma this condition may deteriorate to disseminated intravascular coagulation. Typical consequences of enduring VMs are venous insufficiency or severe arthrosis (e.g. due to hemarthrosis) and recurrent erysipelas with lymphatic malformations (LM), which can severely reduce the quality of life.     

Arteriovenous malformations of the orofacial area

Vascular lesions are pathological residues of the embryonic vascular system and can be divided into two main groups. The first group comprises haemangiomas, which are typical of childhood and involute spontaneously. The second group is formed by lesions without active proliferation, which include, among others, arteriovenous malformations that are congenital and grow proportionately with the subject. The authors present two cases of arteriovenous malformations of the orofacial area and discuss possibilities for modern diagnosis and treatment. Precise diagnosis and effective treatment of vascular lesions should be ensured by a diagnostic and therapeutic team of specialists from several disciplines (maxillofacial, ENT, plastic and general surgeon, paediatrician, haematologist, anaesthesiologist and possibly a neurosurgeon), headed by an intervention radiologist.     

Endovascular treatment of arteriovenous malformation

Vascular anomalies are common congenital or neonatal abnormalities. According to the approved classification of vascular lesions by Glowacki and Mulliken, hemangiomas and vascular malformations are distinguishable. Hemangiomas usually appear during the first days or weeks after birth and grow faster than the whole body of the infant. They are proliferating benign tumors that often involute. The opposite of hemangiomas, vascular malformations are present at birth, grow commensurately with the patient, demonstrate normal endothelial turnover, and never involute. The case of a young woman with an arteriovenous malformation (AVM) located on the left side of her face beneath the lower lip is described. The patient did not have any specific complaints except the cosmetic effect, which was a reddish and bluish discoloration of the skin over the lesion. The AVM was embolized with polyvinyl alcohol, and no subsequent surgery was performed. Follow-up ultrasound examination after a 12-month period showed no flow within the lesion area.     

The lymphatic malformations: clinical aspects and evolution

Lymphatic malformations (LM) are the most frequent vascular malformations. There are three types of lesions involving lymphatic development that must be included in LM: vascular anomalies and knots (truncal malformations [TLM]); cystic anomalies, superficial or deep, uni- or multicystic (extratruncal malformations [ETLM]) and hemolymphatic anomalies which combine venous, arterial, or capillary malformations with LM. ETLM can be ubiquitously distributed but most are located in the cervical or axillary regions. Most ETLM are diagnosed at birth and in 80-90% of the cases before the age of 2. The clinical aspects are extremely variable: superficial ETLM (vesicular) and deep ETLM, localised or diffuse, mono- or multicystic. TLM are generally located on a lower limb with neonatal lymphatic oedema (often in a polymalformation context). All forms of the hemolymphatic combination can be identified. They are generally located on the limbs and are often unilateral. They are usually sporadic but can also be can be found in polymalformation syndromes (Klippel-Trénaunay, Parkes-Weber, Protée, Maffucci). ETLM generally tend to increase in volume and spread with age with stabilisation at puberty. They do not tend to spontaneously regress. Specific local complications can have serious consequences. They are linked to haemorrhaging, infections and compression phenomena. There can also be complications such as skeletal and soft tissue hypertrophy.     

Developmental venous anomaly, cavernous malformation, and capillary telangiectasia: spectrum of a single disease

Summary Developmental venous anomalies (DVAs), cavernous malformations, and capillary telangiectasias are related vascular malformations of the central nervous system. Mixed lesions of the central nervous system vasculature have been reported in a host of combinations, including many possible concomitant combinations of cavernous malformations, venous anomalies, capillary telangiectasias, and arteriovenous malformations (AVMs). We describe the natural history of disease in a female with developmental venous anomaly, cavernous malformation, and capillary telangiectasias appearing in sequence. Correspondence: Robert F. Spetzler MD, C/o Neuroscience Publications, Barrow Neurological Institute, 350 W. Thomas Rd., Phoenix, 85013 AZ, USA.     

Vascular anomalies of the upper limb

Vascular anomalies of the upper extremity are a surgical challenge to the hand surgeons. The treatment modality varies with respect to the presentation, extent of the lesion, progression and their complications. Based on our experience in treating patients with vascular malformations, a protocol has been formulated for their management, which we have found to be very useful and successful. With the use of the tumescent technique and good planning, haemangiomas are best excised in infancy or early childhood. Investigations like contrast computed tomography and magnetic resonance imaging have been found to be a useful tool in the diagnosis and planning of surgery for venous malformations. Embolisation seems to be a safe option in arteriovenous malformations.KEY WORDS: Haemangioma, vascular malformations, vascular birthmarks     

Vascular anomalies in 5,621 patients: guidelines for referral

Objective

To characterize referrals to a vascular anomalies center to determine which lesions should be treated by specialists.

Study Design

Patients sent to our center between 1999 and 2010 were reviewed. Type of anomaly, anatomical location, sex, accuracy of referral diagnosis, and the geographic origin of the referred patient were analyzed.

Results

Five thousand six hundred twenty-one patients had a confirmed diagnosis: 35.2% had a tumor and 64.8% had a malformation. Types of tumors included infantile hemangioma (85.9%), hemangioendothelioma (7.8%), congenital hemangioma (5.4%), and pyogenic granuloma (0.9%). Malformations consisted of venous (36.8%), lymphatic (28.3%), arteriovenous (14.3%), capillary (11.0%), and combined slow-flow (9.6%) lesions. Forty-three percent of the cohort resided outside of our region; these patients were most likely to have a malformation (51.9%) or rare vascular tumor (74.5%). Only 53.0% of patients had a correct referral diagnosis: 77.8% for infantile hemangioma and pyogenic granuloma, compared with 45.6% and 34.7% for malformations and rare tumors, respectively.

Conclusions

Two thirds of lesions sent to a vascular anomalies center are vascular malformations. Malformations and rare tumors are most likely to be misdiagnosed and referred from outside of the region. Vascular malformations (except for simple capillary lesions), rare tumors, and problematic infantile hemangiomas should be managed by specialists in this field.