Enjolras Odile, Soupre Véronique, Picard Arnaud
Service de chirurgie maxillofaciale et chirurgie plastique, centre de référence des pathologies rares neurovasculaires malformatives de l'enfant, site Trousseau, hôpital d'Enfants-Armand-Trousseau, AP-HP, 75012 Paris, France.
Presse Med. 2010 Apr;39(4):457-64. doi: 10.1016/j.lpm.2009.07.029. Epub 2010 Mar 4.
All superficial vascular abnormalities are not angiomas even though this term continues - incorrectly - to be used. Because the suffix "oma" implies a tumor, it is necessary to differentiate true vascular tumors, such as infantile hemangioma, from vascular malformations. From a hemodynamic perspective, there are two types of vascular malformations: slow- and fast-flow. In addition to the functioning of the impaired or severely damaged vessels, we discuss slow-flow capillary, venous, or lymphatic malformations and rapid flow arterial and arteriovenous malformations. All combinations are possible. There are several types of childhood vascular tumors with different courses and different prognoses. Infantile hemangioma is by far the most frequent (8 to 10 children/100). The diverse other vascular tumors in children are sufficiently rare that they are described as orphan diseases. Since the end of the last century, a simple endothelial marker, GLUT-1, is available. This immunophenotype is present in all cases of infantile hemangioma at every stage and is negative in other tumors. Kasabach-Merritt syndrome and its accompanying severe thrombocytopenia never complicate childhood hemangioma, contrary to what has been said for nearly 60 years. When it is present, the tumor is either a tufted angioma or kaposiform hemangioendothelioma, and the GLUT1 marker can distinguish them from infantile hemangioma if the histologic diagnosis is uncertain (GLUT 1 is negative in both the latter cases). There are a wide variety of rare vascular tumors; many of them are benign, isolated, or limited; some are locally aggressive and recur after excision. A small number are low-grade malignant lesions with a risk of multivessel expansion, metastasis, and sometimes a fatal outcome. Major progress has been made in the imaging of these vascular abnormalities. Magnetic resonance imaging (MRI) in particular has revolutionized the non-invasive and especially the non-irradiating exploration of many of them. It provides information about the extent of the lesion and allows an etiological approach in many cases. Moreover, neuroradiologic evaluation of vascular cerebromeningeal lesions benefits not only from the now-standard diagnostic neurologic imaging methods of CT and MRI, but also from various advances in the techniques of functional imaging. Accordingly, for Sturge-Weber syndrome, functional imaging provides hope for an early prognosis, in particular cognitive, when these techniques are more widely used (SPECT, PET, especially the new advanced sequences of perfusion in MRI-DTI). Chronic - indeed lifelong - coagulation abnormalities, with phases of aggravation, occur in approximately half of the patients with venous malformations of the trunk and limbs, and more rarely in neck and face sites. This is not without consequences, but also not without therapeutic solutions: screening for it is therefore essential (measurement of dimer and fibrinogen levels). The discovery of gene mutations at the origin of some familial vascular malformations provides complementary data for the current classification of vascular abnormalities. It suggests that targeted therapy may be possible but probably not for quite a bit longer.
尽管“血管瘤”这个术语仍在被错误地使用,但并非所有浅表血管异常都是血管瘤。因为后缀“oma”意味着肿瘤,所以有必要将真正的血管肿瘤,如婴儿血管瘤,与血管畸形区分开来。从血液动力学角度来看,血管畸形有两种类型:慢血流型和快血流型。除了受损或严重受损血管的功能外,我们还讨论慢血流型的毛细血管、静脉或淋巴管畸形以及快血流型的动脉和动静脉畸形。所有类型的组合都是可能的。儿童期有几种不同病程和预后的血管肿瘤。婴儿血管瘤是迄今为止最常见的(每100名儿童中有8至10例)。儿童期其他各种血管肿瘤非常罕见,被描述为罕见病。自上世纪末以来,一种简单的内皮标志物——葡萄糖转运蛋白1(GLUT-1)已可供使用。这种免疫表型在婴儿血管瘤的各个阶段均存在,而在其他肿瘤中为阴性。卡萨巴赫-梅里特综合征及其伴随的严重血小板减少症绝不会使儿童期血管瘤复杂化,这与近60年来的说法相反。当出现这种情况时,肿瘤要么是丛状血管瘤,要么是卡波西样血管内皮瘤,如果组织学诊断不确定,GLUT1标志物可将它们与婴儿血管瘤区分开来(后两种情况中GLUT1均为阴性)。有各种各样罕见的血管肿瘤;其中许多是良性的、孤立的或局限性的;有些具有局部侵袭性,切除后会复发。少数是低级别恶性病变,有多血管扩张、转移的风险,有时会导致致命后果。在这些血管异常的影像学检查方面已经取得了重大进展。尤其是磁共振成像(MRI)彻底改变了对其中许多疾病的无创,特别是无辐射检查。它提供了有关病变范围的信息,并在许多情况下允许采用病因学方法。此外,对脑血管脑膜血管病变的神经放射学评估不仅受益于目前标准的CT和MRI诊断神经影像学方法,还受益于功能成像技术的各种进展。因此,对于斯特奇-韦伯综合征,当这些技术更广泛应用时(单光子发射计算机断层扫描、正电子发射断层扫描,尤其是MRI-DTI中的新的先进灌注序列),功能成像为早期预后,特别是认知预后带来了希望。躯干和四肢静脉畸形的患者中约有一半会出现慢性(实际上是终身性)凝血异常,并伴有加重期,颈部和面部部位较少见。这并非没有后果,但也并非没有治疗方法:因此进行筛查至关重要(检测二聚体和纤维蛋白原水平)。一些家族性血管畸形起源的基因突变的发现为当前血管异常的分类提供了补充数据。这表明靶向治疗可能可行,但可能还需要很长时间。