Behcet\'s disease (BD) is one of the most vision-threatening clinical entities of uveitis. Although the etiopathogenesis of BD remains obscure, accumulating evidence has demonstrated that both genetic and environmental factors may contribute to the development of BD. Genome-wide association studies (GWAS) and candidate association studies have identified several genetic variants strongly associated with BD, including variants in human leukocyte antigen (HLA) -A02, -A03, -A24, -A26, -A31, -B15, -B27, -B35, -B49, -B51, -B57, -B58, -C0704, CIITA, ERAP1, MICA, IL1A-IL1B, IL10, IL12, IL23R, IL-23R/IL-12RB2, IL1RL1-IL18R1, STAT4, TFCP2L1, TRAF5, TNFAIP3, CCR1/CCR3, RIPK2, ADO-ZNF365-EGR2, KLRC4, LACC1, MEFV, IRF8, FUT2, CEBPB-PTPN1, ZMIZ1, RPS6KA4, IL10RA, SIPA1-FIBP-FOSL1, VAMP1, JRKL/CTCN5, IFNGR1 and miRNA-146a. Epigenetic modifications are also reported to play essential roles in the development of BD, including DNA methylation and histone modification. We review here the recent advances in the genetic and epigenetic factors associated with the BD pathogenesis.

BACKGROUND: We present a rare case of NeuroBehcet\'s-related intracranial hypertension without cerebral venous thrombosis (NBrIHwCVT), occurring as the first presentation of NeuroBehcet\'s. In addition, we describe the novel use of subcutaneous tocilizumab for this indication. This is followed by a review of the literature on this topic.
METHODS: The patient was a 28-year-old lady of Southern Chinese origin with a known history of Behcet\'s disease with oral ulcers and ocular findings for which she was on mycophenolate mofetil and adalimumab. She presented with a headache and bilateral disc swelling associated with an intracranial pressure (ICP) of > 40cmH20. There were no structural lesions or cerebral venous thrombosis (CVT) on imaging. Initial lumbar puncture had raised leucocytes and protein. We discuss diagnostic challenges given persistently elevated ICP despite subsequent non-inflammatory cerebrospinal fluid (CSF) profiles and non-response to acetazolamide. She eventually showed a response to immunosuppressant therapy in the form of pulsed methylprednisolone, cyclophosphamide and subsequently subcutaneous tocilizumab, supporting the diagnosis of NBrIHwCVT. Complete normalization of ICP remains challenging. Her disease course was severe, unusual for her ethnicity.
METHODS: We identified 34 patients (including ours) from 14 publications. We found that the majority of NBrIHwCVT patients were young (average age of 34 years), with a slight female preponderance. Of the 17 cases in the literature with available data on CSF profile, none had raised leucocytes whilst one patient had elevated protein. Patients were generally treated with steroids and occasionally azathioprine, in line with the suspected autoimmune pathophysiology. Of 22 patients with data on outcome, six (27%) were noted to have recurrence of symptoms generally occurring a few months later.
CONCLUSIONS: As demonstrated by this case, NBrIHwCVT can present with BD with raised ICP even if there is no prior history of NB, central Asian ethnicity, cerebral venous thrombosis or features of inflammation on the CSF. We demonstrated how novel use of Tocilizumab may have a role in the management of NBrIHwCVT. Based on our literature review, patients were more likely to be young, female, display a non-inflammatory CSF picture, be treated with steroids and harbour a possibility of recurrence.

Behcet\'s disease (BD) is a rare but globally distributed vasculitis that primarily affects populations in the Mediterranean and Asian regions. Behcet\'s uveitis (BU) is a common manifestation of BD, occurring in over two-thirds of the patients. BU is characterized by bilateral, chronic, recurrent, non-granulomatous uveitis in association with complications such as retinal ischemia and atrophy, optic atrophy, macular ischemia, macular edema, and further neovascular complications (vitreous hemorrhage, neovascular glaucoma). Although the etiology and pathogenesis of BU remain unclear, numerous studies reveal that genetic factors (such as HLA-B51), dysregulated immune responses of both the innate and adaptive immune systems, infections (such as streptococcus), and environmental factors (such as GDP) are all involved in its development. Innate immunity, including hyperactivity of neutrophils and γδT cells and elevated NK1/NK2 ratios, has been shown to play an essential role in this disease. Adaptive immune system disturbance, including homeostatic perturbations, Th1, Th17 overaction, and Treg cell dysfunction, is thought to be involved in BU pathogenesis. Treatment of BU requires a tailored approach based on the location, severity of inflammation, and systemic manifestations. The therapy aims to achieve rapid inflammation suppression, preservation of vision, and prevention of recurrence. Systemic corticosteroids combined with other immunosuppressive agents have been widely used to treat BU, and beneficial effects are observed in most patients. Recently, biologics have been shown to be effective in treating refractory BU cases. Novel therapeutic targets for treating BU include the LCK gene, Th17/Treg balance, JAK pathway inhibition, and cytokines such as IL-17 and RORγt. This article summarizes the recent studies on BU, especially in terms of pathogenesis, diagnostic criteria and classification, auxiliary examination, and treatment options. A better understanding of the significance of microbiome composition, genetic basis, and persistent immune mechanisms, as well as advancements in identifying new biomarkers and implementing objective quantitative detection of BU, may greatly contribute to improving the adequate management of BU patients.

Acute genital ulcers can affect females of all ages. In children, they often appear as an emergency and remain a diagnostic challenge for pediatricians, gynecologists and dermatologists. Prompt diagnosis and identification of disease- related factors help to implement appropriate treatment. Firstly, it is crucial to properly compile the past medical history of the patient. Past infectious, autoimmune, malignant or traumatic conditions, as well as vaccinations may contribute to the occurrence of acute genital ulcers. Moreover, new infectious agents, such as severe acute respiratory syndrome coronavirus 2 and vaccinations against Coronavirus disease of 2019, may play a significant role in the development of atypical clinical symptoms. Here we present a case of a 12-year-old girl with acute genital ulcers. Additional symptoms accompanying the ulcer included: abdominal pain, nausea, vomiting, dysuria, vulvar pain and fever. Blood test showed leukocytosis, especially neutrophilia and monocytosis and increased levels of c-reactive protein and procalcitonin. Serological tests for the most common infections were negative. Moreover, the patient had a history of autoimmune diseases. She had periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome, and IgA vasculitis, also known as Henoch-Schönlein purpura in her past medical history. Additionally, she was vaccinated against SARS-CoV-2 shortly before the lesions appeared.

UNASSIGNED: Behcet\'s disease (BD) is characterized by systemic vasculitis with inflammation that can affect various body organs. In BD, vasculitis primarily manifests with venous involvement, distinguishing it from other forms of systemic vasculitis.
UNASSIGNED: We retrospectively analyzed the demographic and clinical characteristics of 147 patients diagnosed with vascular BD in our center.
UNASSIGNED: Vascular BD cases accounted for 25.0% (147 out of 589) of all BD patients. A statistically significant correlation was found between gender and vascular involvement that was seen predominantly in males (76.9%). In 71 patients, a vascular event developed during follow-up for BD, while in 76 patients the disease was diagnosed after the occurrence of a vascular event (51.7%). The most common vascular event was deep vein thrombosis in the lower extremities (69.4%). Arterial involvement was primarily observed in the pulmonary arteries (12.9%). Patients with lower extremity deep vein thrombosis tended to be younger, while those with pulmonary artery involvement were typically older. Overall, veins were affected 4.5 times more frequently than arteries.
UNASSIGNED: The prevalent type of venous involvement was deep vein thrombosis in the lower extremities. Thrombotic events in BD cannot be solely attributed to abnormalities in thrombotic factors. The treatment of thrombotic events in BD remains contentious, with anticoagulant efficacy being debated and immunosuppressive therapy representing the primary treatment approach. Behcet\'s disease should be considered when a young male patient presents with an arterial or venous vascular event, especially if it is recurrent.

Few case reports have mentioned the aortic sinus aneurysm invading ventricular septum and dissection caused by Behcet\'s disease. Here, we reported a 36-year-old male patient with an aortic sinus aneurysm invading the ventricular septum and dissection caused by Behcet\'s disease, who manifested as recurrent chest tightness and shortness of breath. Cardiac ultrasound showed the rupture of the right aortic sinus and the formation of ventricular septal dissection. Ascending aortic valve prosthesis replacement, mitral valvuloplasty with ring implantation and tricuspid valvuloplasty were performed. Postoperatively, he was treated with hormones, hydroxychloroquine sulfate, mycophenolate mofetil tablets, thalidomide and warfarin, and his symptoms were relieved. This is a rare case easily being misdiagnosed and missed, early diagnosis and in-time treatment are crucial to avoid surgical complications. The diagnostic and therapeutic approaches of this patient were reported and related literature was reviewed in this case report.

Behçet\'s Disease (BD) is an intractable systemic vasculitis. When accompanied by intestinal symptoms, the prognosis is usually poor. 5-Aminosalicylic acid (5-ASA), corticosteroids, immunosuppressive drugs, and anti-tumor necrosis factor-α (anti-TNF-α) biologics are standard therapies to induce or maintain remission for intestinal BD. However, they might not be effective in refractory cases. Safety should also be considered when patients have an oncology history. Regarding the pathogenesis of intestinal BD and the specific targeting effect of vedolizumab (VDZ) on the inflammation of the ileum tract, previous case reports suggested that VDZ might be a potential treatment for refractory intestinal BD.
We report a 50-year-old woman patient with intestinal BD who had oral and genital ulcers, joint pain, and intestinal involvement for about 20 years. The patient responds well to anti-TNF-α biologics but not to conventional drugs. However, biologics treatment was discontinued due to the occurrence of colon cancer.
VDZ was intravenously administered at a dose of 300 mg at 0, 2, and 6 weeks and then every eight weeks. At the 6-month follow-up, the patient reported significant improvement in abdominal pain and arthralgia. We observed complete healing of intestinal mucosal ulcers under endoscopy. However, her oral and vulvar ulcers remained unresolved, which disappeared after adding thalidomide.
VDZ may be a safe and effective option for refractory intestinal BD patients who do not respond well to conventional treatments, especially those with an oncology history.

OBJECTIVE: To report a case of combined central retinal vein occlusion (CRVO) with cilioretinal artery occlusion (CLRAO) that heralded the development of frosted branch angiitis (FBA).
METHODS: A 25-year-old healthy male presented with sudden painless visual loss in his left eye with a visual acuity (VA) of 20/300. Fundus exam and fluorescein angiography showed signs of combined CRVO and CLRAO. Without treatment, his vision gradually improved until it reached 20/30 within four months. Five months after initial presentation, he returned with severe visual loss (20/400) in the same eye and a clinical picture of severe occlusive periphlebitis resembling a frosted branch angiitis pattern associated with severe macular edema. This was promptly and successfully treated with systemic steroids and immunosuppressive medications.
CONCLUSIONS: CRVO in young population can have an unusual course and one should carefully rule out underlying uveitic etiologies in each visit. Clinical suspicion and close follow‑up are required for early detection and timely management of FBA.

Behçet\'s disease (BD) is a rare, chronic multisystem disease of unknown aetiology. Clinically, it presents with ulceration located on the oral and genital mucosa, skin, uveitis, arthritis and neurological disorders. Most commonly, the disease affects men in the second and third decades of life and occurs endemically. The vast majority of cases have been reported in Asia and the Mediterranean area. The diagnosis of this disease is difficult, especially because of its rare occurrence in Central Europe. In this report, we present the case of BD in a 56-year-old man with primary sclerosing cholangitis, followed by a literature review covering current insights into BD aetiology, diagnostics and treatment.

Behcet\'s disease (BD) is a chronic systemic inflammatory disorder characterized by underlying chronic vasculitis of both large- and small-caliber vessels. Thoracic involvement in BD can occur with various types of manifestations, which can be detected with contrast-enhanced MSCT scanning. In addition, MR can be useful in diagnosis. Characteristic features are aneurysms of the pulmonary arteries that can cause severe hemoptysis and SVC thrombosis that manifests as SVC syndrome. Other manifestations are aortic and bronchial artery aneurysms, alveolar hemorrhage, pulmonary infarction, and rarely pleural effusion. Achieving the right diagnosis of these manifestations is important for setting the correct therapy and improving the patient\'s outcome.