New Evidence-Based Treatment Approach in Behçet's Disease

Behçet's disease (BD) is a chronic, relapsing, and debilitating systemic vasculitis of unknown aetiology with the clinical features of mucocutaneous lesions, ocular, vascular, articular, neurologic, gastrointestinal, urogenital, and pulmonary involvement. The disease is much more frequent along the ancient “Silk Route” extending from Eastern Asia to the Mediterranean basin, compared with Western countries. The disease usually starts around the third or fourth decade of life. Male sex and a younger age of onset are associated with more severe disease. Although the treatment has become much more effective in recent years, BD is still associated with severe morbidity and considerable mortality. The main aim of the treatment should be the prevention of irreversible organ damage. Therefore, close monitoring, early, and appropriate treatment is mandatory to reduce morbidity and mortality. The treatment is mainly based on the suppression of inflammatory attacks of the disease using immunomodulatory and immunosuppressive agents. In this paper, current state of knowledge regarding the therapeutic approaches is outlined. To provide a rational framework for selecting the appropriate therapy along the various treatment choices, a stepwise, symptom-based, evidence-based algorithmic approach was developed

Behçet’s Disease: An Overview of Etiopathogenesis

Behçet's disease (BD) is a systemic inflammatory disease with a chronic, relapsing-remitting course of unknown etiology hallmarked predominantly by mucocutaneous lesions and ocular involvement. BD shares some common features with autoimmune and autoinflammatory diseases and spondyloarthropathies (MHC-I-opathies). It is related to more than one pathogenic pathway triggered by environmental factors such as infectious agents in genetically predisposed subjects. The interplay between genetic background and immune system is linked to the BD presentation. Genetic factors have been investigated extensively, and several recent genome-wide association studies have confirmed HLA-B*51 to be the strongest genetic susceptibility factor. However, new non-HLA susceptibility genes have been identified. Genetic variations in the genes encoding the cytokines could affect their function and be associated with disease susceptibility. Infectious agents such as Streptococcus sanguinis or the differences in salivary or gut microbiome composition can be considered to trigger the innate-derived inflammation, which is, subsequently, sustained by adaptive immune responses. Altered trimming of microbial and/or endogenous peptides by endoplasmic reticulum aminopeptidase 1 (ERAP1), presented by HLA-B*51, may play a key role in BD pathogenesis causing an alteration in T cell balance with downregulation of Tregs and expansion of Th1 and Th17. The activity of neutrophils is increased and there is an intense neutrophil infiltration in the early stage of inflammation in organs affected by the disease. Association with HLA-B*51 and increased IL-17 response seems to have an important role in neutrophil activity. In this paper, we provide an overview of the most recent advances on BD etiopathogenesis

Mnogie naczyniaki jamiste rdzenia kręgowego w zespole Klippla-Trenaunaya-Webera

Klippel-Trenaunay-Weber syndrome (KTWS) is a rare, congenital vascular disorder characterized by cutaneous haemangiomas, venous varicosities, and hypertrophy of the osseous and soft tissue. Various vascular anomalies of the central nervous system have been described in this syndrome. Two previous associations between KTWS and spinal cord cavernous malformations have been reported in the English literature. In this report, we present a patient in whom multiple cavernous malformations located in the conus medullaris region and cauda equina were associated with KTWS. General physical examination as well as neuroradiological and operative findings are described.Zespół Klippla-Trenaunaya-Webera (ZKTW) to rzadkie, wrodzone schorzenie naczyniowe, w którym stwierdza się naczyniaki skóry, żylaki oraz przerost kości i tkanek miękkich. W przebiegu zespołu obserwowano różnorodne nieprawidłowości naczyniowe ośrodkowego układu nerwowego. W piśmiennictwie anglojęzycznym opisano wcześniej dwukrotnie związek ZKTW z obecnością naczyniaków jamistych rdzenia kręgowego. W niniejszej pracy przedstawiono przypadek pacjenta, u którego w przebiegu ZKTW występowały mnogie naczyniaki jamiste okolicy stożka rdzeniowego i ogona końskiego. Omówiono wyniki badania klinicznego, badań obrazowych i nieprawidłowości stwierdzone w czasie leczenia chirurgicznego

Hidradenitis suppurativa: chronology of the onset of the disease symptoms and their gender differences: a singlecenter case series of 100 patients

Background and Design: The onset chronology of disease symptoms in patients with hidradenitis suppurativa (HS) and their gender differences have not yet been fully elucidated. We aimed to define the onset chronology of the disease symptoms and the socio-demographic and clinical characteristics. Materials and Methods: This single-center case series study included 100 consecutive patients. The disease symptoms for each patient were recorded in the time order of manifestations. Results: HS was more common in males (72%); 70% of the patients were overweight or obese. Smoking and alcohol consumption was significantly higher in males. The axilla was the most common onset area, followed by the inguinal and gluteal regions. The incidence of disease onset in the axilla in male and disease onset in the gluteus in female patients was significantly higher. Also, involvement of the pubis, perianal region, neck, back, and behind the ear was more common in males. The disease followed a more severe course in patients with the involvement of axilla, perianal, and inframammary areas (p<0.05). Conclusion: Besides being the most commonly involved site, axilla was the most common disease onset area in both genders; however, the incidence of disease onset in the gluteus is higher in females and the axilla in males. The male dominance observed in our cohort followed previous results reported from Türkiye, although differing from other countries. This suggests each society's unique genetic and environmental characteristics may influence the course and evolution of the disease

Clinicopathological analysis of patients diagnosed with DRESS

Background and Design: Drug reaction with eosinophilia and systemic symptoms (DRESS) is an uncommon, but potentially fatal, adverse drug reaction. Despite the alarming statistics regarding morbidity, mortality, and hospitalizations, epidemiological data on DRESS are insufficient. In this investigation, we sought to determine the etiology, clinicopathological characteristics, and prognosis of DRESS cases at our institution. Materials and Methods: In this retrospective, single-center study, 23 patients with DRESS examined between January 2014 and September 2020 were included according to the European Registry of Severe Cutaneous Adverse Reactions (RegiSCAR) scoring system. Patients were examined between January 2014 and September 2020. Descriptive statistics, Shapiro-Wilk test, Kolmogorov-Smirnov test, Mann-Whitney U test, Pearson chi-square test, and Fisher's exact test were performed. Results: The most frequently detected culprit drug category was anticonvulsants. Maculopapular eruption (100%) and elevated liver function tests (82%) were the most prevalent cutaneous and laboratory findings, respectively. Patients with elevated liver enzymes were more likely to exhibit facial erythema/edema and lymph node enlargement than those without (p=0.021 and p=0.103, respectively). The predominant pathological features were sparse vacuolization of the dermal-epidermal junction and superficial perivascular lymphohistiocytic inflammation with eosinophils. Two patients died during the period of follow-up, three patients were lost to follow-up, and eighteen patients recovered completely. Conclusion: Our research demonstrated that facial erythema/edema and lymph node enlargement are more prevalent in patients with elevated liver enzymes. Cyclosporine may be a treatment option in the fragile age group to prevent systemic corticosteroid complications. Early diagnosis and treatment that balances benefits and risks remain the most important determinants of prognosi

Mucocutaneous Lesions of Behçet's Disease

Behçet's disease is particularly prevalent in "Silk Route" populations, but it has a global distribution. The diagnosis of the disease is based on clinical criteria as there is as yet no pathognomonic test, and mucocutaneous lesions, which figure prominently in the presentation and diagnosis, may be considered the diagnostic hallmarks. Among the internationally accepted criteria, painful oral and genital ulcers, cutaneous vasculitic lesions and reactivity of the skin to needle prick or injection (the pathergy reaction) are considered hallmarks of Behçet's disease, and often precede other manifestations. Their recognition may permit earlier diagnosis and treatment, with salutary results. This paper describes the various lesions that constitute the syndrome and focuses on those that may be considered characteristic

Treatment of acne with intermittent and conventional isotretinoin: a randomized, controlled multicenter study

Oral isotretinoin is the most effective choice in the treatment of severe acne. Application of isotretionin to acne has been expanded to treat those patients with less severe but scarring acne who are responding unsatisfactorily to conventional therapies. However, its use is associated with many side effects, some of which can result in very disastrous consequences. Data related with intermittent isotretinoin therapy is still limited. Our aim was to asses the efficacy and tolerability of two different intermittent isotretinoin courses and compare them with conventional isotretinoin treatment. In this multicenter and controlled study, 66 patients with moderate to severe cases were randomized to receive either isotretionin for the first 10 days of each month for 6 months (group 1), or each day in the first month, afterwards the first 10 days of each month for 5 months (group 2) or daily for 6 months (group 3). The drug dosage was 0.5 mg/kg/day in all groups. Patients were followed-up for 12 months. Efficacy values were evaluable for 22 patients in group 1, 19 patients in group 2, and 19 patients in group 3. Acne scores in each group were significantly lower at the end of treatment and follow-up periods (P < 0.001). When patients were evaluated separately as moderate (n = 31) and severe (n = 29), no statistically significant differences were obtained among the treatment protocols in patients with moderate acne. However, there was a significant difference between groups 1 and 3 to the response of the treatments in severe acne patients at the end of follow-up period (P = 0.013). The frequency and severity of isotretionin-related side effects were found to be lower in groups 1 and 2 compared with group 3. Intermittent isotretinoin may represent an effective alternative treatment, especially in moderate acne with a low incidence and severity of side effects. The intermittent isotretinoin can be recommended in those patients not tolerating the classical dosage

Patient use of complementary and alternative medicine for psoriasis vulgaris and factors believed to trigger the disease: A multicenter cross-sectional study with 1621 patients

Introduction: Due to the chronic recurrent nature of psoriasis vulgaris (PV) and lack of definitive treatment for the disease, patients often resort to alternative treatments. Physicians seem to have low awareness of this issue. Objectives: To elicit the perceptions of 1,621 PV patients on complementary and alternative medicine (CAM) and examine factors reported to worsen PV. Methods: The patients sociodemographic characteristics, Psoriasis Area Severity Index (PASI), Dermatology Life Quality Index (DLQI), disease duration, and severity were recorded, and the patients CAM use was questioned in detail. The patients were also asked about factors that worsened PV and their experiences with a gluten-free diet. Results: Of the patients, 56.51% had used CAM. The mean age, illness duration, PASI scores and DLQI of those using CAM were significantly higher. CAM use was significantly higher in those with facial, genital involvement, and arthralgia/arthritis. The patients mostly referred to CAM when PV became severe (46.4%). Of the CAM users, 45.52% used herbal topicals. The physicians of 67.03% did not inquire whether they used CAM. Of the participants, 37.73% considered that stress worsened their disease. Gluten-free diet did not affect PV symptoms in 52.22%. Conclusions: Patients CAM use is often overlooked by dermatologists. Our results showed that more than half the patients used CAM and did not share this information with their physicians. Therefore, the awareness of physicians should be increased and patients should be asked about the use of CAM and directed to the appropriate medical treatment options by physicians

Habits of using social media and the internet in psoriasis patients

Introduction: Psoriasis significantly affects the patients quality of life, which often leads patients to seek online information about this disease. Objectives: To explore the habits of patients with psoriasis related to their use of social media (SM) and the internet to obtain information about their disease. Methods: 1,520 patients completed the survey and the Dermatology Life Quality Index (DLQI) questionnaire. The Psoriasis Area Severity Index scores (PASI) and clinical data of the patients were recorded by their physicians. Results: Of the 1,114 patients that reported using SM and internet, 48.38% regularly and 31.14% sometimes resorted to obtain information about psoriasis. The use of SM and internet for psoriasis was statistically significantly higher among young people (P = 0.000), those with university or higher education (P = 0.009), higher DLQI (P = 0.000) and PASI (P = 0.011) scores, facial (P = 0.050), scalp (P = 0.032), hand (P = 0.048), genital (P = 0.001) and inverse (P = 0.000) involvement, and arthralgia/arthritis (P = 0.006). The participants mostly used the Google (86%) and Facebook (41%). More than half of the participants (62.8%) expected dermatologists to inform society that psoriasis is not contagious. Conclusions: Internet and SM being widely available and offering substantial information to be easily accessed make it very attractive for patients to use these platforms to investigate diseases, including psoriasis. If what is presented on SM conflicts with what the physician says, patients mostly trust the latter, but at the same time, they tend not to share the results of their online inquiries with their physicians

Low frequency of the TIRAP S180L polymorphism in Africa, and its potential role in malaria, sepsis, and leprosy

<p>Abstract</p> <p>Background</p> <p>The Toll-like receptors (TLRs) mediate innate immunity to various pathogens. A mutation (S180L) in the TLR downstream signal transducer <it>TIRAP </it>has recently been reported to be common in Europeans and Africans and to roughly half the risks of heterogeneous infectious diseases including malaria, tuberculosis, bacteremia, and invasive pneumococal disease in heterozygous mutation carriers.</p> <p>Methods</p> <p>We assessed the <it>TIRAP </it>S180L variant by melting curve and RFLP analysis in 1095 delivering women from malaria-endemic Ghana, as well as in a further 1114 individuals participating in case control studies on sepsis and leprosy in Germany, Turkey and Bangladesh.</p> <p>Results</p> <p>In Ghana, the <it>TIRAP </it>S180L polymorphism was virtually absent. In contrast, the mutation was observed among 26.6%, 32.9% and 12% of German, Bangladesh and Turkish controls, respectively. No significant association of the heterozygous genotype with sepsis or leprosy was observed. Remarkably, homozygous <it>TIRAP </it>180L tend to increase the risk of sepsis in the German study (<it>P </it>= 0.04).</p> <p>Conclusion</p> <p>A broad protective effect of <it>TIRAP </it>S180L against infectious diseases <it>per se </it>is not discernible.</p