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.     

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.     

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.     

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%).     

Understanding vascular anomalies: a common language for doctors

Vascular anomalies are benign vascular lesions of childhood and complex lesions should be managed within a specialized multidisciplinary team. They have been poorly understood owing to a lack of a common nomenclature among the various medical specialities as the subject remains neglected in undergraduate and postgraduate courses. The seminal work of Mulliken and Glowacki in 1982 established the foundations of the understanding of vascular anomalies by classifying them according to their histopathological and clinical features. Based on these findings, in 1996 the International Society for the Study of Vascular Anomalies classified vascular anomalies into vascular tumours (haemangiomas and others) and vascular malformations (capillary, lymphatic, venous, arteriovenous or a combination). Their characteristics and management differ greatly. Haemangiomas are the most frequent tumours of infancy. They are benign, transitory and self-limiting vascular lesions that exhibit cellular proliferation. Usually not present at birth, haemangiomas undergo transformation through a cycle of rapid proliferation over 6 months, to a variable period of involution and spontaneous regression over years. Their management is usually conservative, with active treatment reserved for the presence of functional or cosmetic complications (ulceration, obstruction and distortion of vital structures). Vascular malformations are structural anomalies of vascular morphogenesis without cellular proliferation. They present at birth, do not regress spontaneously and are subclassified as low-flow (capillary, lymphatic and venous) and high-flow (arteriovenous) lesions. Their effects may be those of a space-occupying lesion: infection, bleeding, pain or coagulopathy. Treatment options include dye laser (capillary), percutaneous sclerotherapy and surgery (venous and lymphatic) and embolization and surgery (arteriovenous).     

In vitro characteristics of endothelium from hemangiomas and vascular malformations

Hemangiomas are vascular tumors characterized by rapid growth, increased endothelial turnover, and increased numbers of mast cells. Vascular malformations grow commensurately with the patient or expand secondary to hemodynamic alteration and are characterized by a normal endothelial cell cycle and normal numbers of mast cells. Operative specimens of vascular birthmarks were categorized as hemangiomas or malformations based on clinical history, light microscopic examination, and mast cell quantitation. The specimens were cultured in tumor-conditioned medium and plasma clot culture. Capillary endothelium derived from hemangioma specimens formed capillary tubes in tissue culture--"angiogenesis in vitro." Capillary endothelium from malformations was difficult to culture and was not observed to form tubules. Hemangioma specimens demonstrated rapid outgrowth of tubular structures from plasma clot cultures, whereas malformation tissue did not produce such outgrowth. These results indicate that hemangioma endothelium grows preferentially in culture in comparison with endothelium from vascular malformations. It suggests a biologic difference, which correlates with our previously proposed classification.     

体表静脉畸形的诊断与治疗进展

体表静脉畸形(Peripheral venous malformations)是指位于头颈部、躯干或四肢的蓝紫色血管发育异常病灶,多见于皮肤和皮下组织,亦可见于黏膜或肌肉。尽管体表静脉畸形属于良性的血管畸形病变,但其生长与身体发育同步,不会自行消退,容易造成容貌缺陷和功能障碍,应积极进行诊断与治疗。本文就体表静脉畸形的临床诊断及常见治疗方法进行综述。     

Nerve distribution in hemangiomas depends on the proliferative state of the microvasculature

Hemangiomas appear at birth and undergo gradual regression within several years. Recent published studies have documented increased nerve numbers in port-wine stains and intramuscular vascular tumors. The aim of this study was to establish a relationship between angiogenesis and nerve growth in lesions that undergo neovascular proliferation followed by vessel involution. Twenty-two hemangiomas and arteriovenous malformations were studied using indirect immunocytochemistry with antibodies against the nerve markers protein gene product 9.5 (PGP 9.5) and calcitonin gene-related peptide (CGRP). Nerves and vessels were counted and compared. Our results indicate that PGP 9.5(+) and CGRP(+) nerves were most numerous in growing hemangiomas and numbers were reduced in involuting hemangiomas and vascular malformations. The percentage of CGRP(+) sensory nerves was markedly increased in growing hemangiomas (45.3%) compared with involuting hemangiomas (21.2). These data indicate that hemangiomas with increasing neovascularization have increased sensory nerve growth. Sensory nerve-derived neuropeptides are known to act as endothelial cell mitogens and may contribute to the angiogenesis in these vascular tumors. Conversely, angiogenic endothelial cells may secrete mediators that promote nerve fiber growth. These results suggest that endothelial cell proliferation and sensory nerve fiber growth may be closely related.     

Arteriovenous malformations: clinical aspects and evolution

Arteriovenous malformations are rare high-flow malformations. As other malformations, they are present at birth but may remain quiescent for many years; their flow may speed up quickly consequently on an infection, traumatism or modification of the hormonal climate. A "nidus" appears in the heart of the malformation which acts as a real "turbo" on the blood flow; vascular shunts appear creating ulcerations (vascular steal phenomenon); cardiac failure may be observed. Among all vascular anomalies, arteriovenous malformation is the most dangerous in its evolution which may be fatal. Its control requires prudence and skill.     

A huge lymphovenous malformation in the retroperitoneum

Vascular malformations are localized or diffuse errors of embryonic development resulting in collections of abnormal vessels with normal endothelium. Many authors have pointed out the confusing terminology of vascular anomalies that has led to improper diagnosis and therapy. This still remains confused in clinical practice, especially in cases occurring at rare regions or presenting atypical radiologic findings. We present a huge retroperitoneal lymphovenous malformation, which exhibited unusual radiologic findings and was difficult to confirm the diagnosis that occurred in a 12-year-old male.     

Vascular anomalies of the maxillofacial region

A biologic classification based on clinical behavior and endothelial cell characteristics is used to divide vascular birthmarks into two groups: hemangiomas and vascular malformations. This system is applied to vascular anomalies of the maxillofacial region and is demonstrated with illustrative cases. The distinction between hemangioma and vascular malformation is important for maxillofacial surgeons because hemangiomas rarely affect bone, whereas malformations affect bone in 35% of cases.     

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.     

Acute exacerbation of macroglossia leading to necrosis of the anterior third of the tongue.

Macroglossia is defined as an enlarged tongue that protrudes beyond the teeth or the alveolar ridge in the resting position. Macroglossia may be classified into generalised and localised based on the extent of tongue involvement. Each of these groups can be subdivided into congenital, inflammatory, traumatic, metabolic and neoplastic lesions [Myer III CM, Hotaling AJ, Reilly JS. The diagnosis and treatment of macroglossia in children. Ear Nose Throat J 1986;65:444-8]. The congenital causes are vascular anomalies such as haemangioma and lymphovenous malformations. We report the case of a large lymphovenous malformation of the tongue in a 17 month old child who developed an acute exacerbation of macroglossia following trauma. This eventually led to necrosis of the anterior third of his tongue requiring a partial glossectomy.     

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.     

Vascular malformations of the small intestine manifesting as chronic anemia: Two pediatric cases managed by single-site umbilical laparoscopic surgery

IntroductionVascular malformations affecting abdominal viscera, especially the gastrointestinal tract, are less common than that in other body segments. Nonetheless, it seems to be one of the important causes of gastrointestinal bleeding in not only adults but also children as well. It occurs during the development stage of vascular system, and may increase in severity as the child grows.Presentation of caseWe present here two cases of lesions developed at the small intestine in an 8-year-old girl and 3-year-old girl, which were identified during the management for chronic anemia. Although there were some limitations associated with diagnosis, a histology confirmed the presence of arteriovenous malformations in both cases, they were successfully treated with surgical resection, especially minimal invasive procedure.DiscussionVascular malformations of abdominal viscera, especially the small intestine, are rare clinical manifestations in pediatric patients but are among the important causes of acute massive or chronic obscure LGI bleeding. Unless there is significant GI bleeding, patients are usually treated for anemia with obscure LGI bleeding. In the present study, selective angiography was useful in one case and CT enterogram with angiography was useful in the other case.ConclusionConsidering the rarity and possibility of gastrointestinal bleeding due to vascular malformations, it is necessary to be regarded as one of differential diagnosis when managing a lower gastrointestinal bleeding in pediatric patients. Besides, a minimal invasive procedure could be suggested as a good surgical option when necessary.     

增殖细胞核抗原在血管瘤及血管畸形组织中的表达

目的了解血管瘤的不同形态学类型和同一类型不同时期的内皮细胞增殖情况。方法采用免疫组织化学方法对41例不同形态学类型的血管瘤标本进行了增殖细咆核抗原(PCNA)的检测和比较,其中包括婴幼儿期血管瘤标本29例及成人期际本12例。结果增生期草霉状血管瘤、增生期混合血管瘤以及部分婴幼儿海绵状血管瘤检测结果为阳性,提示其内皮细胞处于增殖状态,其余均为阴性,经统计学处理,不同类型的婴幼儿增生期血管瘤间的 PCNA 标记指数无显著差异,与消退期婴幼儿血管瘤及各类成人血管瘤有显著差别。结论 PCNA 的表达对血管瘤的分类、诊断及治疗选择都有意义。     

The Pathogenesis of Congenital Vertebral Malformations: A Study Based on Observations made in 11 Human Embryos and Fetuses

The pathogenesis of congenital vertebral malformations was investigated histologically in 266 human embryos and fetuses. Malformations were found in 11 specimens, and were grouped according to a detailed classification. All the malformations were observed as abnormalities of the cartilaginous anlage of the vertebral body, and permitted some conclusions as to their pathogenesis. A hemivertebra or other defect of formation of the vertebral body is considered to be caused by abnormal differential growth of the loose-celled area. Defects of segmentation are due to complete chondrification of the dense-celled area or to an absence of the dense-celled area. The notochord does not seem to be responsible for malformations. Compensatory growth of other vertebral bodies resulting from a partial defect or a peculiar shape of the body is already present in this very early stage of development. Some specimens show a relationship between the abnormal distribution of the intersegmental arteries and the abnormality of the vertebral segments. Considering the importance of the intersegmental artery in the formation of the definitive vertebral body anlage, as mentioned in a previous paper, it may be concluded that congenital vertebral malformations are likely to occur during the stage of resegmentation and to be related to the abnormal distribution of the intersegmental arteries.     

Vascular anomalies in pediatrics

Vascular tumors consist of lesions secondary to endothelial hyperplasia, incorporating both hemangiomas and less common pediatric vascular tumors. Vascular malformations arise by dysmorphogenesis and exhibit normal endothelial cell turnover. Some anomalies may incorporate multiple areas of the vascular tree. Use of this division has provided a clinically useful method of diagnosis and prognosis, as well as a guide to therapy. It is hoped that with continued investigation into the biology and pathogenesis of these lesions, a more comprehensive molecular classification will soon be developed.     

Congenital vascular malformations: when and how to treat them

Congenital vascular malformations may involve arterial, venous, and lymphatic structures, can present in a variety of forms, and present many diagnostic and therapeutic challenges. Two-thirds of all congenital vascular malformations are predominantly venous, and their management will be emphasized in this article, because of the focus of this issue. The majority of the venous malformations are asymptomatic and should be treated conservatively. However, the clinical presentation of venous malformations associated with lymphatic anomalies is variable, and management may be more challenging. The diagnosis and management of arteriovenous malformations is straightforward. Selective catheter-directed embolization of the feeding arteries, occasionally followed by tumor excision, is the treatment of choice. Hemangiomas often will grow rapidly and then begin to regress. When they produce troublesome symptoms and are well localized, they should be excised. Deeply seated or diffuse malformations require a complete diagnostic evaluation to select the most appropriate time and type of intervention. Both our own experience and that of others can provided some basis for therapeutic recommendations in treating the different vascular malformations.     

皮肤血管瘤和血管畸形细胞增殖与凋亡的对比研究

目的：探讨皮肤血管瘤和血管畸形的细胞凋亡与增殖的平衡关系及与临床生物学行为的可能关系。方法：采用流式细胞术检测皮肤血管瘤和血管畸形组织中凋亡细胞比率及细胞周期分布,分析细胞凋亡/增殖水平。结果：血管瘤增生期和消退期凋亡/增殖水平出现下调和上调（P〈0.05）,而血管畸形细胞凋亡/增殖水平与正常皮肤相比无显著性差异（P〉0.05）。结论：细胞凋亡/增殖水平在皮肤血管瘤和血管畸形之间存在差异且可能与二者的病理演变过程密切相关。