Acta dermatovenerologica Croatica : ADC最新文献

Netherton syndrome (NS) is a rare autosomal recessive disorder caused by SPINK5 mutations, leading to LEKTI deficiency and skin barrier dysfunction. It manifests as ichthyosis, trichorrhexis invaginata (bamboo hair), and atopic diathesis, including food allergies, asthma, and elevated IgE levels. Early genetic testing is key for accurate diagnosis and treatment. We report a case of a two-year-old girl initially diagnosed with atopic dermatitis, presenting with severe, persistent skin issues from infancy. The symptoms included dry, scaly, and inflamed skin, along with elevated IgE levels and polysensitization to food allergens. Trichorrhexis invaginata was identified, and genetic testing confirmed NS. Despite treatments with corticosteroids and emollients, the patient continued to experience flare-ups, leading to the use of biological therapy, specifically secukinumab, due to persistent skin barrier dysfunction. NS is often misdiagnosed due to its overlap with atopic dermatitis, especially in early stages. Mutations in SPINK5 vary in severity, influencing treatment outcomes. Current therapies, including corticosteroids, emollients, and immunomodulators, provide limited relief. New treatments like IVIG, retinoids, and biologics (e.g., secukinumab, dupilumab) show promise in managing inflammation and restoring the skin barrier, with secukinumab targeting IL-17A showing significant improvements. The psychosocial impact of NS affects the patient's quality of life, causing anxiety, social withdrawal, and family stress. Early genetic testing, targeted therapies, and psychosocial support are crucial for managing NS. Future research should focus on improving genetic testing accessibility, optimizing combination therapies, and addressing psychosocial challenges.

Alopecia areata (AA) is an autoimmune disorder characterized by non-scarring hair loss, often accompanied by systemic manifestations, suggesting a potential link to systemic inflammation. While previous studies have explored the association between AA and cardiovascular risk (CVR), findings remain inconsistent. The main objectives of the study were to analyze cardiovascular risk (CVR) and systemic inflammatory activity in patients with AA compared with healthy controls. Additionally, the study aimed to investigate associations between systemic inflammation/CVR and baseline clinical variables in patients with AA. The study used a case-control design with patients matched for age, sex, and anthropometric characteristics. Measurements of blood pressure, pulse wave velocity, lipid and carbohydrate metabolism parameters, systemic inflammatory markers, and vitamin D levels were conducted. Seventy-two participants were included in the study (36 patients with AA, 36 healthy controls), of whom 72.2% were women (52/72), with a mean age of 39 years (±2.6). The baseline Severity of Alopecia Tool (SALT) values in patients with AA was 42% (±6). Patients with AA had higher systolic blood pressure than controls, with no differences in diastolic blood pressure, pulse wave velocity, or metabolic profile. Patients with AA showed higher systemic inflammation parameters and lower vitamin D levels. No association was observed between CVR and systemic inflammation; these factors were not associated with disease severity, duration, or type of treatment. Despite presenting similar cardiovascular risk profiles to healthy controls, patients with AA demonstrated elevated systemic inflammatory activity. However, these factors did not appear to be interrelated, and were not associated with disease severity. risk profiles to healthy controls, they had elevated systemic inflammatory activity and lower vitamin D levels.

The effectiveness of ixekizumab in controlling moderate to severe psoriasis has been established by clinical trials. Nevertheless, further research from real-world scenarios is still required. We aimed to assess the long-term efficacy, drug survival, and safety of ixekizumab in the treatment of psoriasis and to determine the factors that could potentially impact the efficacy and drug survival. Patients with psoriasis who initiated ixekizumab treatment underwent follow-up for up to 156 weeks. The effectiveness of the treatment was determined using the Psoriasis Area Severity Index (PASI). The study employed Kaplan-Meier analysis to assess drug survival and utilized Cox regression analysis to analyze predictive factors. The data of 496 patients with moderate-to-severe psoriasis were included in this study. PASI 75/ 90 and 100 rates for the 156th week were found to be 98.1%, 96.2%, and 30.7%, respectively. Palmoplantar involvement was the only factor associated with PASI 100 achievement at the 16th week (OR 3.848, %95 CI: 1.341-11.043, p: 0.012). At 12 months, 24 months, and 36 months, the cumulative drug survival probability rates were 91.6%, 86.8%, and 85.7%, respectively. PASI 90 achievement at the 16th week was associated with a lower rate of discontinuation (HR 4.634, 95% CI (2.073-10.358), P<0.001) while female sex was associated with high rate of discontinuation (HR 2.270, 95% CI (1.081-4.770), P=0.030). Our study indicates rapid, sustainable effectiveness of ixekizumab in psoriasis treatment. Achieving PASI 100 may be challenging for patients with palmoplantar involvement. Achieving PASI 90 by the 16th week is a predictor of longer drug survival.

The aim of this case report is to present a patient with Lyme carditis and erythema migrans complicated with third-degree atrioventricular (AV) block and the need for pacemaker implantation. A 20-year-old patient comes to the hospital because of syncope. A few days earlier, he had chest pains with an irregular heartbeat. Upon arrival, the heart rate is 30 beats per minute. The electrocardiogram (ECG) shows AV block of the third degree with asystolic pauses. In laboratory findings, leukocytosis (20x109) and C-reactive protein (10.8 mg/L). A transcutaneous temporary external pacemaker was placed. Anamnestic information is obtained about a tick bite and migrating erythema at the site of the bite one month before arrival at the hospital. Enzyme immunoassay was positive for Borrelia burgdorferi. Ceftriaxone is introduced into the treatment. Despite therapy, the patient has persistent symptomatic AV block of the third degree with presyncope and syncope, which is why a permanent two-chamber pacemaker is implanted. He was discharged from the hospital in a cardiac stable condition. At the follow-up after one year, he was symptom-free, there was no AV block in the ECG, and 0.1% ventricular stimulation was recorded in the pacemaker's memory. We conclude that third-degree AV block caused by a tick bite, complicated by Borrelia burgdorferi infection with erythema migrans and carditis, although in most cases it passes spontaneously, sometimes, if presyncope and syncope are present, along with temporary electrostimulation of the heart, it requires permanent electrostimulation of the heart.

Fluoroscopy-induced radiodermatitis, whether acute or chronic, is a complication of fluoroscopy-guided cardiac diagnostic and interventional procedures. Repeated cardiac catheterization and coronary angioplasty procedures, prolonged exposure time and, radiation doses greater than 10-12 Gy are the culprits in the development of skin inflammation. Acute radiodermatitis usually develops within two weeks after the procedure and is easily recognized clinically, whereas the chronic form can have a long latent period of almost ten years. Clinical symptoms of chronic disease caused by excessive irradiation include atrophy, sclerosis, telangiectasia, pigmentary changes, ulceration, and even the development of malignant neoplasms. We describe a patient with a history of psoriasis in whom chronic radiodermatitis developed after six fluoroscopic cardiac procedures, and the diagnosis established approximately four years after the last catheterization.

Cutaneous lymphoid hyperplasia (CLH) is a benign skin disorder that clinically and histopathologically mimics cutaneous lymphoma, making it a diagnostic challenge. CLH can exhibit a predominance of B cells, T cells, or a combination of both. This report illustrates a case of a 27-year-old male patient with an erythematous plaque on his cheek, initially histopathologically described as lymphoid hyperplasia of B-immunophenotype. The lesion recurred years later, necessitating a thorough diagnostic investigation. Clonality analysis coupled with imaging led to the exclusion of cutaneous lymphoma, therefore confirming B-cell CLH as the final diagnosis. Treatment options were limited by the esthetic demands of the facial region, as well as the patient's age, considering the risks of radiotherapy in younger patients. Furthermore, the possibility of progression to cutaneous lymphoma was considered, highlighting the importance of long-term patient follow-up.

Linear IgA Bullous Dermatosis (LABD) is a rare autoimmune blistering disease (AIBD) characterized by linear depositions of IGA antibodies at the dermo-epidermal junction, resulting in subepithelial vesiculobullous lesions that affect the skin and mucous membranes. Despite advancements in the study of AIBDs, significant gaps persist in LABD's clinical presentation, treatment, and outcome measures due to the absence of validated, disease-specific scoring systems. The purpose of this paper is to identify any differences in disease distribution between adults and children, and to review and evaluate existing scoring tool for AIBDs. A literature search was performed using Embase and PubMed to identify relevant studies and case reports. According to the literature, adults and children had different cutaneous distributions of disease, with lesions on the perineum, hands and feet, and face more frequently reported in children. However, there was inconsistent data on whether mucous membrane lesions were more frequent in adults or children. Current scoring systems for AIBDs were also identified, with several systemic scoring systems existing in the literature that are validated in scoring AIBD severity. There is currently no literature on scoring systems specific to LABD, underscoring the need to develop and validate LABD specific tools to facilitate the development of standardized treatment guidelines and advance the understanding and management of LABD.