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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
<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
毛囊性黏液沉着症(FM)是一种以毛囊内黏液沉积为特征的组织病理学疾病;主要症状是丘疹性红斑、丘疹性毛疹和毛发部位的脱发(1)。FM根据潜在疾病或并发症分为特发性和继发性。在复发或难治性病例中,疾病可转变为蕈样真菌病。治疗包括局部或全身皮质类固醇、氨苯砜、吲哚美辛、干扰素、羟氯喹和米诺环素;然而,一些患者对这些治疗没有反应(2)。我们报告一例患者特发性FM右脸颊,耐各种治疗,但对环孢素反应良好。一名51岁的日本妇女在第一次到我们诊所就诊前2个月出现右脸颊红斑斑块。最初的体格检查显示仅皮肤受累,右脸颊有浸润性红斑斑块伴弥漫性硬化(图1,a)。实验室检查显示全血细胞计数、抗核抗体和抗dna抗体浓度、血清补体水平均在正常范围内。进行皮肤活检,苏木精和伊红染色显示真皮浅层和中间层有炎症细胞浸润,主要在滤泡和表皮周围区域,这些区域有粘液积聚。表皮未见空泡变性。浸润淋巴细胞并非非典型(图1,b)。粘液的阿利新蓝染色显示粘蛋白沉积,滤泡粘蛋白也存在(图1,c)。免疫组化分析显示浸润表达CD3、CD4和CD8。CD8的表达高于CD4。基于聚合酶链反应,我们发现t细胞受体β链和γ链没有遗传重构。特发性FM是根据这些临床和组织病理学结果诊断的。口服罗红霉素、外用丁酸氢化可的松软膏和口服吲哚美辛均不能改善斑块。口服二甲胺四环素和氨苯砜也无治疗效果。每天0.4 mg/kg泼尼松龙治疗导致斑块改善;在一年的时间里,剂量逐渐减少到每天0.2 mg/kg;然而,随后双颊出现皮肤硬化,这被认为是复发(图1,d)。在该方案中添加2.5 mg/kg /天剂量的环孢素,即使减少泼尼松龙剂量,症状也未复发。特发性FM可能自发消退,但这个临床过程表明环孢素是有效的。强的松龙治疗3年后停止。停止强的松龙治疗后,单独使用环孢素治疗未见复发;因此,斑块被认为是由环孢素控制的。目前,环孢素的剂量已逐渐减少至每天1.5 mg/kg,未发生复发。FM的发病机制在很大程度上是未知的。长矛兵。报道了特发性FM患者滤泡上皮中大量t细胞、巨噬细胞和朗格汉斯细胞的存在,推测细胞免疫参与了FM的发病机制(3)。我们患者的病例代表了口服环孢素相关的FM反应的第一个报告。也有报道称外用吡美莫司是有效的(4),并且FM患者浸润滤泡周围区域的大多数淋巴细胞是cd4阳性t细胞(3),这表明环孢素有效是因为它抑制了t细胞的产生。在之前的一份报告中,对一位特应性皮炎和继发性FM患者使用环孢素,没有描述FM的病程,但在使用环孢素期间出现了刺状滤泡性角化病,在停用环孢素后,所有皮肤病变都消失了(5)环孢素可能是治疗难治性FM的有效选择,但它可能引起不良的皮肤反应。
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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

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.

克罗地亚“Naftalan”特殊医院进行的一项研究评估了萘talantherapy (NT)联合个性化物理治疗(ITP)对119名银屑病关节炎和银屑病患者的影响。患者接受两周或三周的治疗。结果表明,两种治疗持续时间都显著改善了疼痛、僵硬、肿胀、疾病活动、皮肤状况和生活质量,三周的治疗方案证明更有效。研究结果支持将NT和ITP纳入银屑病的治疗中,并表明延长康复可能具有长期效益,可能影响健康保险政策。
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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

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.

牛皮癣是一种慢性、不治之症。慢性皮肤病,包括牛皮癣,是一个重要的问题。一般人群往往对牛皮癣缺乏足够的信息和知识。本研究旨在调查高中四年级学生对银屑病的认知、知识、态度和偏见情况,以确定性别对银屑病的认知、知识、态度和偏见是否存在差异。在2023年3月至12月期间进行了一项前瞻性研究,其中包括图兹拉州地区的333名男性和女性受访者,他们是18岁以上的中学四年级学生,男女不限。几乎一半(48.14%)的受访者不知道牛皮癣是什么,四分之三(79.62%)的受访者不认识任何牛皮癣患者。超过三分之二的受访者(68.82%)不知道世界牛皮癣日的日期。近一半(48.76%)的受访者不愿与牛皮癣患者握手,11.41%的人认为牛皮癣是通过接触传播的;14.50%的受访者认为牛皮癣具有传染性,32.09%的受访者不愿与牛皮癣患者交往。调查对象对银屑病的认知和知识(Hi-test显著性= 0.99952)、对银屑病的态度和偏见(Hi-test显著性= 0.753619)是否存在性别差异,但结果无统计学意义。需要对牛皮癣进行持续的教育,主要是向公众宣传牛皮癣。
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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

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

背景:口腔扁平苔藓(Oral lichen planus, OLP)是口腔黏膜的一种慢性炎症和自身免疫性疾病,在病理生理上有显著的变化。因此,本研究旨在评估东印度人口中OLP患者的社会人口特征,检查社会经济地位(SES)、生活方式因素和疾病特征之间的相互作用。方法:本前瞻性研究于2019年1月至2022年2月在印度东部的一家教学医院进行。在1589名诊断为OLP的患者中,546人自愿同意参加这项研究。我们通过结构化访谈和医疗记录收集社会人口统计数据,如年龄、性别、教育程度、职业、收入、生活习惯和合并症。我们使用SPSS 20.0软件进行统计分析,以确定这些变量与OLP临床特征之间的显著相关性。结果:546例患者中,女性占54.02%,男性占45.97%,其中31 ~ 40岁中年人患病率最高(40.10%)。此外,大多数参与者来自较低种姓(64.64%),属于较低的社会经济阶层(45.60%),超过53%的人从事农业耕作和日常劳动。从生活方式的角度来看,53.39%的参与者对paan, gutka,香烟和酒精高度依赖。常见的合并症包括高血压(18.68%)、糖尿病(16.84%)、甲状腺疾病(10.62%)和既往丙型肝炎感染史(16.84%)。大约70.69%的人经历过压力、焦虑和抑郁,而21.79%的人在olp发展后经常遇到慢性创伤。结论:本研究强调了教学医院中OLP的患病率和严重程度,其中较低的社会经济地位和生活方式因素,如吸烟、合并症和丙型肝炎感染,与OLP的表现显著相关。
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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
<p><p>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
Vogt-Koyanagi-Harada (VKH)病是一种多系统自身免疫性疾病,影响含黑素细胞的组织,如眼睛、耳朵、中枢神经系统和皮肤。一名55岁的日本男性,有8周的弥漫性脱发史。体检发现弥漫性头皮脱发。他失去了所有的体毛,包括眉毛和睫毛。所有剩余的头皮毛发都是白色的,但没有白癜风。实验室检查基本正常,HLA谱为DR4。患者最初被诊断为普遍性脱发,并在同一区域接受皮内注射曲安奈德1 mg 15次。结果,虽然没有观察到毛发生长,但患者的头发在局部注射区域变黑(图1,a)。因此,我们再次回顾了患者的病史,发现他在20岁时出现了双侧葡萄膜炎,并接受了大剂量静脉注射皮质类固醇治疗。当时他还咨询了眼科医生,但没有发现异常。对白发和黑发分别进行了两次活组织检查。组织病理学上,白发未检测到黑色素(图1,b),而黑发在发基质中显示黑色素颗粒(图1,c)。治疗开始时口服强的松龙,剂量为每天30毫克,每2周逐渐减少5毫克。当停止治疗时,相当一部分头发变黑了(图1,d)。VKH病通常有三个阶段。在第一阶段,患者可能会出现头痛、肌肉无力和脑膜炎。通常完全恢复,数天至数周后进入第二阶段,患者可能出现葡萄膜炎、虹膜睫状体炎、脉络膜炎和听觉障碍。随着葡萄膜炎的好转,第三阶段在几周到几个月后开始。第三期为恢复期,以脱发、脊髓灰质炎、白癜风为特征;通常按此顺序发生的据报道,约50%的患者在发病后两个月内出现这些皮肤症状(1)。脊髓灰质炎是斑片状或弥漫性的,发生率高达90%(2)。在我们的病例中,在葡萄膜炎发病20年后,白发的数量开始增加,在几年的时间里,所有的头发都变白了。到目前为止,如此晚发的脊髓灰质炎还没有报道,类固醇治疗甚至在所有头发变白大约15年后导致重新色素沉着。22例VKH患者中有6例(27%)报告脊髓灰质炎和白癜风逆转(3)。所有脊髓灰质炎和白癜风逆转的患者均无眼内炎症。这种逆转可能是一个良好的预兆。我们的病人也没有眼部症状复发。50%-70%的VKH病例可观察到脱发,发生在眼部或脑膜症状出现后几周到几个月(4)。它表现为弥漫性,尽管可能是斑片状的。脱发通常在类固醇或免疫抑制治疗一段时间后愈合。镜下,VKH疾病的脱发表现为球周单个核浸润,并伴有休止期/休止期/生长期卵泡增加(2)。到目前为止,还没有报道将同一患者的白头发和黑头发的组织病理学结果进行比较。本病例未见炎症浸润。其原因可能是慢性阶段的疾病。本例患者在葡萄膜炎发病35年后出现脱发,如此晚发的脱发以及脊髓灰质炎至今未见报道。不幸的是,我们没有观察到头皮毛发的生长。患者继续参加随访,特别注意白癜风的潜在发病。
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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

Introduction: 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.

Methods: 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.

Results: 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.

Discussion: 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.

简介:红斑狼疮是一种具有多种临床表现的自身免疫性疾病。根据临床-免疫学相关性,不同的变异与不同的预后,多种治疗和随访策略被描述。此外,定期的免疫监测可以帮助及时确定疾病从局部到全身的恶化。预先研究的目的是分析不同亚型红斑狼疮皮肤表现患者的抗体谱。方法:对2017年10月至2021年5月在索非亚亚历山德罗夫斯卡大学医院皮肤科收治的67例保加利亚不同临床变型红斑狼疮患者进行调查,并将其数据与63人对照组进行比较。采用了ANA、抗dsdna、抗sm、抗sm /RNP、抗组蛋白、抗c1q、抗ssa /Ro、抗ssa /Ro52、抗ssa /Ro60、抗ssb /La等免疫血清学标志物。统计学分析采用SPSS for Windows 21.0 (IBM, SPSS统计)软件进行参数分析,采用MedCalc for Windows 20.0.23版统计软件进行受试者工作特征(ROC)曲线和曲线下面积(AUC)分析。讨论:我们的数据证实了抗dsdna、抗sm、抗sm /RNP与SLE、抗ssa /Ro 52和抗ssa /Ro 60与亚急性皮肤LE之间的强相关性。ANA是红斑狼疮疾病活动的相关标志物。ANA高于320滴度的狼疮患者病情控制较差。基于我们的研究结果,ANA和抗ssb /La可以作为CLE转化为SLE的随访标志物。抗ssb /La抗体在盘状皮肤LE患者中发病率较高。
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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

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

红皮病型牛皮癣(EP)是一种罕见但严重的炎症性皮肤病,发生在不到3%的牛皮癣患者中。其特征是累及体表面积(BSA) 90%以上,伴弥漫性结垢和红斑。通常,EP在银屑病控制不佳的受试者中发生(1)。由于广泛的皮肤受累和全身症状,EP被认为是皮肤科的紧急情况;此外,它通常对常规治疗有抗药性(1,2)。虽然斑块型银屑病的发病机制已被充分了解,其中Th1、Th2和Th17反应之间存在复杂的相互作用,但EP的炎症机制尚不清楚,但IL-17途径似乎起着关键作用(2)。Brodalumab是一种完全人源单克隆抗体,阻断白细胞介素-17受体a,从而干扰不同的IL-17亚型(a、a /F、F、C和E)(3)。这导致IL-17反应的完全阻断,包括IL-17 C和E,它们由角质形成细胞释放,而不是直接由Th17细胞系释放。因此,与抗il -23和其他抗il -17药物相比,brodalumab具有更广泛的作用,这些药物作用于Th17线的上游(4)。正如Yamasaki等人在一项为期52周的开放标签研究中所显示的,brodalumab与快速反应相关,即使在EP患者中,仅在两周后就显示出症状的急剧改善(3)。在这里,我们报告一个57岁的妇女,最近诊断为斑块银屑病,naïve到全身治疗,谁迅速发展EP。皮肤活检证实银屑病诊断。关于合并症,她有过度饮酒史,潜伏性肺结核检测呈阳性。在第一次评估时,患者的BSA受累率为90%,PASI评分为42,DLQI为26,无银屑病关节炎(图1,a)。检查时,眼部受累特别明显,伴有结膜发红和烧灼感(图1,b)。在接受潜伏性结核病的预防性治疗后,以标记剂量开始使用brodalumab。两周后观察到显著的改善,红斑和鳞片减少,瘙痒和烧灼感减少(图2,A)。结膜发红完全消失。4周后,PASI评分降至2分,BSA降至5%,对生活质量产生积极影响(图2,b)。患者未报告任何不良事件。由于这种形式的牛皮癣的罕见性,国际指南或建议的EP治疗和管理缺乏。根据病例报告或小病例系列,目前有几种生物药物在标签外使用,具有最佳的反应和耐受性(1)。据我们所知,在现实生活中使用brodalumab治疗EP的病例只有6例(2,4,5)。根据文献中发表的病例,我们的经验显示起效迅速,没有任何相关的不良事件。brodalumab在EP治疗中最有希望的一个方面是减少患者的住院率;事实上,由于其作用迅速,可以避免全身性类固醇治疗,通常用于治疗EP,因此可以避免类固醇相关的ae。此外,由于其疗效高,无需常规免疫抑制药物,可用于单一治疗。最后,其优异的耐受性使其能够在更广泛的患者环境中使用。综上所述,基于其临床疗效、快速疗效和安全性,特别是考虑到减轻患者和医院管理的临床负担,brodalumab可能是EP的有效治疗选择。
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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

Background: 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.

Methods: 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.

Results: 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.

Study limitations: The healthy skin around neurofibromas was not analyzed due to limited available material.

Conclusion: 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.

背景:1型神经纤维瘤病是较为常见的罕见疾病之一,其非典型/节段性或马赛克形式未被充分诊断。到目前为止,只有几十例局部马赛克神经纤维瘤病进行了NF1基因的种系和体细胞基因联合检测。方法:一名65岁女性患者因右肩多发神经纤维瘤就诊,临床诊断为局限性马赛克神经纤维瘤病。其中一个神经纤维瘤通过手术切除。利用大规模平行测序和多重连接依赖探针扩增技术鉴定了NF1基因的种系和体细胞变异。结果:在肩部神经纤维瘤DNA中检测到NF1基因的杂合致病性变异c.7549C >t和多个杂合基因内缺失,而在血白细胞和口腔涂片中未检测到NF1基因的缺失。研究局限性:由于可用材料有限,未对神经纤维瘤周围的健康皮肤进行分析。结论:对局部形式的神经纤维瘤病进行生殖系和体细胞基因检测是可取的,因为这有助于对后代的风险进行适当的遗传咨询,后代可能遗传种系致病变异。另一个需要考虑的重点是癌症监测,这在马赛克形式的神经纤维瘤病中往往没有得到充分利用。
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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

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

背景:水源性瘙痒症(AP)以接触水后的强烈瘙痒为特征,对有效治疗提出了重大挑战,特别是在其特发性形式下。本研究调查了β -丙氨酸作为AP的潜在治疗选择。方法:通过一个专门的社交媒体小组,对75名自我报告的AP患者(主要是意大利人)进行了全面的在线调查,以评估β -丙氨酸补充剂的疗效和副作用。结果:β -丙氨酸成为参与者的普遍选择,显示出有希望的疗效,平均缓解评分为8.84 / 10 (95% CI: 8.52-9.16)。瘙痒加重期间平均每日剂量为1.59 g (SD±0.73)。39.6%的使用者报告称,短暂性感觉异常是主要的副作用。结论:虽然进一步的对照试验是必要的,但这一轶事证据强调了-丙氨酸作为AP管理的有价值的辅助手段的潜力,解决了深刻影响生活质量的疾病。
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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

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.

通过检查数百名作曲家的病理,我们发现了许多皮肤变化。我们强调拉赫玛尼诺夫黑色素瘤。更详细地研究了显著的病理,并按作曲家的出生日期按时间顺序显示。作曲家的皮肤变化通常是轻微的,很少致命。
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引用次数: 0
期刊
Acta dermatovenerologica Croatica : ADC
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