Yazici Hasan, Fresko Izzet, Yurdakul Sebahattin
Department of Medicine and the Division of Rheumatology, Cerrahpasa Medical Faculty, University of Istanbul, Turkey.
Nat Clin Pract Rheumatol. 2007 Mar;3(3):148-55. doi: 10.1038/ncprheum0436.
The acne lesions characteristic of Behçet's syndrome are not sterile and are commonly observed in combination with arthritis. The two main nodular skin lesions--superficial thrombophlebitis and erythema nodosum--are equally frequent, and rather difficult to distinguish. Superficial thrombophlebitis is usually observed in combination with thrombosis in large veins, and thrombosis of the large veins usually clusters with dural sinus thrombi, which make up approximately 20% of all central nervous system (CNS) lesions of Behçet's syndrome. The remaining CNS lesions are parenchymal, mainly located in the brainstem, and associated with a graver prognosis than dural sinus thrombi. The presence of clinical clusters indicates that there are at least two pathogenetic pathways in Behçet's syndrome: a reactive arthritis pathway and a thrombophilia pathway. Research into the pathogenesis of Behçet's syndrome has shown that the most consistent genetic marker of Behçet's syndrome is HLA-B51; however, the genetic association of this true-to-form 'complex' disorder with HLA-B51 is only 20%, and a whole-genome study showed associations with 16 different loci. The severity of Behçet's syndrome and the mortality associated with it tend to decrease with time, and there is no associated increase in incidence of atherosclerosis. Although treatment of skin-mucosa manifestations, eye disease and pulmonary artery aneurysms has improved significantly in the past decades, the treatment of CNS lesions and thrombophilia are still problematic.
白塞病的痤疮样皮损并非无菌性，且常与关节炎并发。两种主要的结节性皮肤病变——浅表性血栓性静脉炎和结节性红斑——出现频率相当，且较难区分。浅表性血栓性静脉炎通常与大静脉血栓形成并发，而大静脉血栓形成常与硬脑膜窦血栓聚集，后者约占白塞病所有中枢神经系统（CNS）病变的20%。其余的CNS病变为实质性病变，主要位于脑干，其预后比硬脑膜窦血栓更严重。临床聚集现象的存在表明，白塞病至少有两条发病途径：反应性关节炎途径和易栓症途径。对白塞病发病机制的研究表明，白塞病最一致的遗传标志物是HLA - B51；然而，这种典型的“复杂”疾病与HLA - B51的遗传关联度仅为20%，一项全基因组研究显示其与16个不同基因座有关联。白塞病的严重程度及其相关死亡率往往会随时间降低，且动脉粥样硬化的发病率没有相应增加。尽管在过去几十年中，皮肤黏膜表现、眼部疾病和肺动脉瘤的治疗有了显著改善，但CNS病变和易栓症的治疗仍然存在问题。
