Acta dermatovenerologica Croatica : ADC最新文献

筛选
英文 中文
A Case of Idiopathic Follicular Mucinosis Treated Successfully with Cyclosporine. 环孢素治疗特发性滤泡性黏液病1例。
Hayato Mizuno, Tetsuji Yanase, Yuri Yorita, Takanobu Kan, Akio Tanaka
{"title":"A Case of Idiopathic Follicular Mucinosis Treated Successfully with Cyclosporine.","authors":"Hayato Mizuno, Tetsuji Yanase, Yuri Yorita, Takanobu Kan, Akio Tanaka","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Follicular mucinosis (FM) is a disease histopathologically characterized by mucin deposition in the hair follicles; the main symptoms are papular erythema, papular pilaris, and hair loss in hairy areas (1). FM is classified as either idiopathic or secondary based on underlying diseases or complications. In recurrent or refractory cases, the disease can transform into mycosis fungoides. Treatment includes local or systemic corticosteroids, dapsone, indomethacin, interferon, hydroxychloroquine, and minocycline; however, some patients do not respond to these treatments (2). We report a case of a patient with idiopathic FM on the right cheek that was resistant to various treatments but responded well to cyclosporine. A 51-year-old Japanese woman presented with an erythematous plaque on her right cheek 2 months before the first visit to our clinic. Initial physical examination revealed cutaneous involvement only, and an infiltrative erythematous plaque with diffuse induration on the right cheek (Figure 1, a). Laboratory investigations revealed that complete blood count, antinuclear and anti-DNA antibody concentrations, and serum complement level were all within the normal range. A skin biopsy was performed, and hematoxylin and eosin staining revealed inflammatory cell infiltration in the shallow and middle layers of the dermis, mainly in the follicular and periadventitial areas, and mucus accumulation in those areas. There was no vacuolar degeneration of the epidermis. The infiltrating lymphocytes were not atypical (Figure 1, b). Alcian blue staining of the mucus revealed mucin deposition, and follicular mucin was also present (Figure 1, c). Immunohistochemical analysis revealed that the infiltrate expressed CD3, CD4, and CD8. The expression of CD8 was higher than that of CD4. We found no genetic reconstitution in the T-cell receptor β and γ chains, based on polymerase chain reaction. Idiopathic FM was diagnosed on the basis of these clinical and histopathological findings. Oral roxithromycin, topical hydrocortisone butyrate ointment, and oral indomethacin did not ameliorate the plaque. The addition of oral minocycline and dapsone also had no therapeutic effect. Treatment with 0.4 mg/kg of prednisolone per day led to improvement of the plaque; the dosage was tapered to 0.2 mg/kg per day over the course of a year; however, skin induration subsequently appeared on both cheeks, which was considered a relapse (Figure 1, d). Cyclosporine at a dose of 2.5 mg/kg per day was added to the regimen, and the symptoms did not recur even when the prednisolone dosage was reduced. Idiopathic FM may regress spontaneously, but this clinical course showed that cyclosporine was effective. Prednisolone treatment was discontinued after 3 years. Following the discontinuation of prednisolone therapy, no relapse was observed under treatment with cyclosporine alone; therefore, the plaque was considered to be controlled by cyclosporine. At present, the dosage of cyclospor","PeriodicalId":94367,"journal":{"name":"Acta dermatovenerologica Croatica : ADC","volume":"32 4","pages":"210-211"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628715","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Influence of Naphtalanotherapy (NT) Combined with Individually Tailored Physiotherapy in Patients with Psoriatic Disease: A Study Based on the Psoriatic Arthritis Cohort of the Special Hospital for Medical Rehabilitation - Naftalan, Croatia. 萘talantherapy (NT)联合个体化物理治疗对银屑病患者的影响:一项基于克罗地亚纳夫塔兰医学康复专科医院银屑病关节炎队列的研究
Sanda Špoljarić Carević, Pero Hrabač, Lara Vasari, Lucija Tomić Babić, Jakov Ivković, Gordana Krnjević-Pezić, Goran Maričić, Melita Bahlen Kramar, Vlatka Matić, Pero Vržogić, Maja Baotić, Porin Perić, Nadica Laktašić Žerjavić
{"title":"Influence of Naphtalanotherapy (NT) Combined with Individually Tailored Physiotherapy in Patients with Psoriatic Disease: A Study Based on the Psoriatic Arthritis Cohort of the Special Hospital for Medical Rehabilitation - Naftalan, Croatia.","authors":"Sanda Špoljarić Carević, Pero Hrabač, Lara Vasari, Lucija Tomić Babić, Jakov Ivković, Gordana Krnjević-Pezić, Goran Maričić, Melita Bahlen Kramar, Vlatka Matić, Pero Vržogić, Maja Baotić, Porin Perić, Nadica Laktašić Žerjavić","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A study conducted at \"Naftalan\" Special Hospital in Croatia evaluated the impact of naphtalanotherapy (NT) combined with individually tailored physiotherapy (ITP) on 119 patients with psoriatic arthritis and psoriasis. Patients underwent treatments for either two or three weeks. Results indicated that both treatment durations significantly improved pain, stiffness, swelling, disease activity, skin condition, and quality of life, with the three-week program proving more effective. The findings support the inclusion of NT and ITP in the management psoriatic disease and suggest that extended rehabilitation could have long-term benefits, potentially influencing health insurance policies.</p>","PeriodicalId":94367,"journal":{"name":"Acta dermatovenerologica Croatica : ADC","volume":"32 4","pages":"181-186"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Awareness, Attitudes, and Prejudices About Psoriasis. 对牛皮癣的认识、态度和偏见。
Eldina Malkic Salihbegovic, Nermina Kurtalic, Sadat Kurtalic, Ivana Topić, Azra Hađigrahić
{"title":"Awareness, Attitudes, and Prejudices About Psoriasis.","authors":"Eldina Malkic Salihbegovic, Nermina Kurtalic, Sadat Kurtalic, Ivana Topić, Azra Hađigrahić","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Psoriasis is a chronic, incurable disease. Chronic skin diseases, including psoriasis, are a significant issue. The general population often does not have enough information and knowledge about psoriasis. The goal of the present study was to examine the awareness, knowledge, attitudes, and prejudices about psoriasis among fourth-grade high school students and to determine whether there are gender differences in awareness, knowledge, attitudes, and prejudices about psoriasis. A prospective study was conducted in the period between March and December 2023, which included 333 male and female respondents, fourth graders in secondary schools, over eighteen years of age, of both sexes, in the area of the Tuzla Canton. Almost half of the participants (48.14%) did not know what psoriasis is, and three quarters of the respondents (79.62%) did not know anyone suffering from psoriasis. More than two thirds of respondents (68.82%) did not know the date of World Psoriasis Day. Almost half of the respondents (48.76%) would not shake hands with a person with psoriasis, and 11.41% believed that it is transmitted by touch; 14.50% of respondents believed that psoriasis is contagious, while 32.09% of respondents would not associate with a person with psoriasis. We also examined whether there were gender differences among respondents in awareness and knowledge on psoriasis (Hi-test significance = 0.99952), attitudes and prejudices about psoriasis (Hi-test significance = 0.753619), but the results were not statistically significant. Continuous education on psoriasis is needed, which will primarily inform the general public about psoriasis.</p>","PeriodicalId":94367,"journal":{"name":"Acta dermatovenerologica Croatica : ADC","volume":"32 4","pages":"194-198"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A comprehensive documentation on sociodemographic data of patients with oral lichen planus in a teaching hospital. 某教学医院口腔扁平苔藓患者的社会人口学资料分析。
Alaka Sahoo, Ajaya K Jena, Sudhir Kumar Paidesetty, Maitreyee Panda
{"title":"A comprehensive documentation on sociodemographic data of patients with oral lichen planus in a teaching hospital.","authors":"Alaka Sahoo, Ajaya K Jena, Sudhir Kumar Paidesetty, Maitreyee Panda","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Oral lichen planus (OLP) is a chronic inflammatory and autoimmune condition of the oral mucosa with significant variation in pathophysiology. Accordingly, the present study aims to evaluate the socio-demographic profile of OLP patients in an eastern Indian population, examining the interplay between socio-economic status (SES), lifestyle factors, and disease characteristics.</p><p><strong>Methods: </strong>This prospective study was conducted at a teaching hospital in eastern India from January 2019 to February 2022. Out of 1589 diagnosed OLP patients, 546 voluntarily agreed to participate in the study. We collected socio-demographic data, such as age, gender, education level, occupation, income, lifestyle habits, and comorbidity, through structured interviews and medical records. We performed statistical analyses using SPSS 20.0 software to identify significant associations between these variables and the clinical features of OLP.</p><p><strong>Results: </strong>Among the 546 participants, 54.02% were women and 45.97% were men, with the highest prevalence (40.10%) in the middle aged adult group (31-40 years). Furthermore, the majority of participants came from lower castes (64.64%), belonged to a lower socio-economic class (45.60%), and over 53% were involved in agricultural farming and daily labor. From a lifestyle perspective, 53.39% of participants were highly addicted to paan, gutka, cigarettes, and alcohol. Common comorbidities included hypertension (18.68%), diabetes (16.84%), thyroid disorders (10.62%), and past hepatitis C infection history (16.84%). Approximately 70.69% experienced stress, anxiety, and depression, while 21.79% frequently encountered chronic trauma post-OLP development.</p><p><strong>Conclusion: </strong>This study highlights OLP prevalence and severity in a teaching hospital, where lower socio-economic status and lifestyle factors, such as tobacco use, comorbidities, and hepatitis C infection, are significantly associated with OLP manifestations.</p>","PeriodicalId":94367,"journal":{"name":"Acta dermatovenerologica Croatica : ADC","volume":"32 4","pages":"173-180"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Vogt-Koyanagi-Harada Disease in which Poliosis and Alopecia Occurred after a Long Period of Time. Vogt-Koyanagi-Harada病是一种长期发生脊髓灰质炎和脱发的疾病。
Shiro Niiyama, Yuki Yokouchi, Hidetsugu Fukuda
{"title":"Vogt-Koyanagi-Harada Disease in which Poliosis and Alopecia Occurred after a Long Period of Time.","authors":"Shiro Niiyama, Yuki Yokouchi, Hidetsugu Fukuda","doi":"","DOIUrl":"","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Vogt-Koyanagi-Harada (VKH) disease is a multisystem autoimmune disorder affecting melanocyte-containing tissues such as the eyes, ears, central nervous system, and skin. A 55-year-old Japanese male presented with an 8-week history of increasing diffuse hair loss. A physical examination revealed diffuse alopecia of the scalp. He lost all body hair, including the eyebrows and eyelashes. All the remaining scalp hair was white, but no vitiligo was present. Laboratory examination found nearly normal values and the HLA profile was DR4. The patient was initially diagnosed with alopecia universalis and received 15 intradermal injections of 1 mg of triamcinolone acetonide to the same region. As a result, although no hair growth was observed, the patient's hair turned black in the area of the local injections (Figure 1, a). We therefore reviewed the patient's medical history again and found that he had developed bilateral uveitis at the age of 20 years and received high-dose intravenous corticosteroid therapy. He also consulted an ophthalmologist at the time, but there were no abnormal findings. Two biopsies were performed in both the white and black hair. Histopathologically, no melanin was detected in the white hair (Figure 1, b), whereas the black hair demonstrated melanin granules in the hair matrix (Figure 1, c). Treatment was started with oral prednisolone at a dose of 30 mg per day, with the dose gradually reduced by 5 mg every 2 weeks. When the treatment was discontinued, a considerable part of the hair had turned black (Figure 1, d). VKH disease typically has three phases. During the first phase, patients may experience headache, muscle weakness, and meningism. Recovery is usually complete, and is followed by the second phase days to weeks later, in which patients may develop uveitis, iridocyclitis, choroiditis, and dysacousia. The third phase begins weeks to months later as the uveitis improves. The third phase is the convalescent phase, and is characterized by alopecia, poliosis, and vitiligo; usually occurring in that order. These dermatologic manifestations have been reported in about 50% of patients by two months after disease onset (1). Poliosis is either patchy or diffuse and occurs in up to 90% of the patients (2). In our case, the amount of white hair began to increase 20 years after the onset of uveitis, and all the hair turned white over the course of a few years. Such a late onset of poliosis has not been reported so far, and steroid treatment resulted in repigmentation even approximately 15 years after all the hair turned white. Reversal of poliosis and vitiligo in the VKH setting has been reported in 6 of 22 (27%) patients (3). All patients with reversal of poliosis and vitiligo had no intraocular inflammation. The reversal may represent a good prognostic sign. Our patient also experienced no recurrence of ocular symptoms. Alopecia can be observed in 50%-70% of cases of VKH disease and occurs a few weeks to a few months after o","PeriodicalId":94367,"journal":{"name":"Acta dermatovenerologica Croatica : ADC","volume":"32 4","pages":"212-213"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Immunological Correlation in Different Cutaneous Clinical Types of Lupus Erythematosus in the Bulgarian Population. 保加利亚人群中不同皮肤临床类型红斑狼疮的免疫学相关性。
Dimitrina Guleva, Lyubka Miteva, Vessela Raykova, Lyubomir Dourmishev
{"title":"Immunological Correlation in Different Cutaneous Clinical Types of Lupus Erythematosus in the Bulgarian Population.","authors":"Dimitrina Guleva, Lyubka Miteva, Vessela Raykova, Lyubomir Dourmishev","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>Lupus erythematosus is an autoimmune disorder with various clinical manifestations. Depending on the clinical-immunological correlation different variants with a variable prognosis, multiple strategies for therapy and follow-up are described. Moreover, a regular immunological monitoring could help for a timely established aggravation of the disease from localized to systemic form. The aim of preset study was to analyze the antibody profile of patients with cutaneous manifestations in different subtypes of lupus erythematosus.</p><p><strong>Methods: </strong>Sixty-seven Bulgarian patients with different clinical variants of lupus erythematosus, admitted in the Department of Dermatology in Alexandrovska University Hospital in Sofia between October 2017 and May 2021 were investigated and their data were compared to those of 63 persons control group. Several immune-serological markers as ANA, anti-dsDNA, anti-Sm, anti-SM/RNP, anti-histone, anti-C1q, anti-SSA/Ro, anti-SSA/Ro52, anti-SSA/Ro60 and anti-SSB/La were used. Statistical analysis was performed using the parametric analysis with SPSS for Windows 21.0 (IBM, SPSS statistics) software and receiver operating characteristic (ROC) curve and the area under the curve (AUC) analysis by MedCalc for Windows, version 20.0.23 statistical software.</p><p><strong>Results: </strong>A statistical significance (p<0.05) was found in all serological markers in LE comparing to the control group. Anti-C1q (p=0.06) had a tendency for a significance in the context of subacute cutaneous LE.Anti-SSA/Ro 52 and anti-SSA/Ro 60 were found to prevail significantly in patients with chronic cutaneous LE. Anti-dsDNA, anti-Sm, anti-Sm/RNP (p<0.05) were related straightly with systemic LE. All patients in our research with higher than 1:320 titers of ANA are found to have bad disease control.</p><p><strong>Discussion: </strong>Our data confirmed the strong association between anti-dsDNA, anti-Sm, anti-Sm/RNP and SLE, as well as anti-SSA/Ro 52 and anti-SSA/Ro 60 and subacute cutaneous LE. ANA is a relevant marker of lupus disease activity. All lupus patients with ANA higher than 320 titter had a bad disease control. Based on our results, ANA and anti-SSB/La could be used as follow-up markers for a disease conversion form CLE to SLE. Anti-SSB/La antibodies are found in higher prevalence in patients with discoid cutaneous LE.</p>","PeriodicalId":94367,"journal":{"name":"Acta dermatovenerologica Croatica : ADC","volume":"32 4","pages":"199-204"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Erythrodermic Psoriasis: Excellent Management Avoiding Hospitalization. 红皮病型银屑病:优良的治疗方法,避免住院。
Silvia Gerosa, Giorgia Ravaglia, Carolina Fantini, Claudio Feliciani, Francesca Satolli
{"title":"Erythrodermic Psoriasis: Excellent Management Avoiding Hospitalization.","authors":"Silvia Gerosa, Giorgia Ravaglia, Carolina Fantini, Claudio Feliciani, Francesca Satolli","doi":"","DOIUrl":"","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Erythrodermic psoriasis (EP) is a rare but severe variant of this inflammatory cutaneous disease, occurring in less than 3% of patients with psoriasis. It is characterized by involvement of more than 90% of body surface area (BSA), with diffuse scaling and erythema. Usually, EP develops in subjects with poor control of psoriatic disease (1). EP is considered an emergency condition in dermatology due to extensive skin involvement and systemic symptoms; moreover, it is often resistant to conventional therapies (1,2). While the pathogenesis of plaque psoriasis is well-understood, with a complex interplay between Th1, Th2, and Th17 responses, the inflammatory mechanisms of EP are less known, but the IL-17 pathway seems to play a pivotal role (2). Brodalumab is a fully human monoclonal antibody blocking the interleukin-17 receptor A, thus interfering with different isoforms of IL-17 (A, A/F, F, C, and E) (3). This results in a complete block of the IL-17 response, including IL-17 C and E, which are released by keratinocytes and not directly by the Th17 line. Therefore, brodalumab presents a broader action in comparison with anti-IL-23 and other anti-IL-17 drugs, which act upstream on the Th17 line (4). As shown by Yamasaki et al. in a 52-week open-label study, brodalumab is associated with a rapid response, even in patients with EP, showing a drastic improvement in symptoms after just two weeks (3). Herein we report a case of a 57 -year-old woman with a recent diagnosis of plaque psoriasis, naïve to systemic therapies, who rapidly developed EP. Psoriasis diagnosis was confirmed by skin biopsy. With regard to comorbidities, she presented a history of excessive alcohol use and tested positive for latent tuberculosis. At the first evaluation, the patient presented with BSA involvement of 90%, a PASI score of 42, and a DLQI of 26, without psoriatic arthritis (Figure 1, a). At the examination, a concomitant ocular involvement was particularly evident, with conjunctival redness and a reported burning sensation (Figure 1, b). After receiving prophylactic treatment for latent tuberculosis, brodalumab was initiated at the labeled dosage. A dramatic improvement was observed after just two weeks, with a reduction of erythema and scaliness as well as the itching and burning sensation (Figure 2, a). Furthermore, the conjunctive redness completely disappeared. After 4 weeks, the PASI score was reduced to 2 and BSA decreased to 5%, with a positive impact on quality of life (Figure 2, b). The patient did not report any adverse events. Due to the rarity of this form of psoriasis, international guidelines or recommendations on EP treatment and management are lacking. Several biologic drugs are currently being used off label based on case reports or small case series, with an optimal response and tolerance profile (1). To our knowledge, , there have been only six cases of EP treated with brodalumab in real-life settings (2,4,5). Our experience, in accordance with ","PeriodicalId":94367,"journal":{"name":"Acta dermatovenerologica Croatica : ADC","volume":"32 4","pages":"214-216"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis. 局部马赛克神经纤维瘤病中各种组织基因检测的应用。
Martin Schwarz, Aleš Vícha, Katarína Kuťková, Lenka Krsková, Šárka Bendová, Jana Zarzycka, Petra Hedvičáková, Milan Macek, Markéta Vlčková
{"title":"Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis.","authors":"Martin Schwarz, Aleš Vícha, Katarína Kuťková, Lenka Krsková, Šárka Bendová, Jana Zarzycka, Petra Hedvičáková, Milan Macek, Markéta Vlčková","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Neurofibromatosis type 1 is one of the more common rare disorders, and its atypical/segmental or mosaic forms are underdiagnosed. Thus far, only a few dozen cases of localized mosaic neurofibromatosis have undergone combined germline and somatic genetic testing for the NF1 gene.</p><p><strong>Methods: </strong>A 65-year-old female patient was referred to our center for multiple neurofibromas on her right shoulder, with a clinical diagnosis of localized mosaic neurofibromatosis. One of the neurofibromas was surgically removed. Massively parallel sequencing and multiplex ligation-dependent probe amplification were utilized to identify the germline and somatic variants in the NF1 gene.</p><p><strong>Results: </strong>The heterozygous pathogenic NF1 gene variant c.7549C>T and multiple heterozygous intragenic NF1 gene deletions were detected in the DNA taken from the shoulder neurofibroma, but not in the DNA from blood leukocytes or buccal smear.</p><p><strong>Study limitations: </strong>The healthy skin around neurofibromas was not analyzed due to limited available material.</p><p><strong>Conclusion: </strong>Germline and somatic genetic testing in localized forms of neurofibromatosis are advisable since this facilitates proper genetic counseling regarding risks to offspring, who could inherit a germline pathogenic variant. Another important point to consider is cancer surveillance, which is often underutilized in mosaic forms of neurofibromatosis.</p>","PeriodicalId":94367,"journal":{"name":"Acta dermatovenerologica Croatica : ADC","volume":"32 4","pages":"205-209"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Beta-alanine as a Potential Treatment for Aquagenic Pruritus: An Online Social Media-based Survey Study. β -丙氨酸作为水源性瘙痒症的潜在治疗方法:一项基于社交媒体的在线调查研究。
Antonio Concistrè
{"title":"Beta-alanine as a Potential Treatment for Aquagenic Pruritus: An Online Social Media-based Survey Study.","authors":"Antonio Concistrè","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Background: </strong>Aquagenic pruritus (AP), characterized by intense itching upon water contact, poses a significant challenge for effective treatment, especially in its idiopathic form. This study investigated beta-alanine as a potential therapeutic option for AP.</p><p><strong>Methods: </strong>A comprehensive online survey was conducted among 75 self-reported patients with AP, predominantly Italian, recruited through a dedicated social media group to assess the efficacy and side-effects of beta-alanine supplementation.</p><p><strong>Results: </strong>Beta-alanine emerged as a prevalent choice among participants, demonstrating promising efficacy with an average relief rating of 8.84 out of 10 (95% CI: 8.52-9.16). The average daily dosage during pruritus exacerbation was 1.59 grams (SD ± 0.73). Transient paresthesia represented the primary side-effect, reported by 39.6% of users.</p><p><strong>Conclusion: </strong>While further controlled trials are necessary, this anecdotal evidence underscores beta-alanine's potential as a valuable adjunct to AP management, addressing a condition that profoundly impacts quality of life.</p>","PeriodicalId":94367,"journal":{"name":"Acta dermatovenerologica Croatica : ADC","volume":"32 4","pages":"123-134"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rachmaninov's Melanoma and Other Skin Changes in Composers. 拉赫玛尼诺夫的黑色素瘤和作曲家的其他皮肤变化。
Darko Breitenfeld, Mirna Šitum, Ruth Švarc, Marija Živković
{"title":"Rachmaninov's Melanoma and Other Skin Changes in Composers.","authors":"Darko Breitenfeld, Mirna Šitum, Ruth Švarc, Marija Živković","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>By examining several hundred pathographies of composers, we identified numerous skin changes . We emphasize Rachmaninov's melanoma. Notable pathographies were studied in more details and shown chronologically by the composers date of birth. Skin changes in composers were usually mild and rarely fatal.</p>","PeriodicalId":94367,"journal":{"name":"Acta dermatovenerologica Croatica : ADC","volume":"32 3","pages":"148-153"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信