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Quality of life impact in patients with cutaneous toxicities caused by EGFR inhibitors and immunotherapy. 表皮生长因子受体抑制剂和免疫疗法对皮肤毒性患者生活质量的影响。
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-04-17 DOI: 10.1159/000536332
M. Mannino, P. Sollena, A. Di Stefani, Ernesto Rossi, E. D'Argento, Giovanni Schinzari, G. Tortora, Ketty Peris
BACKGROUNDnovel oncologic therapies, including epidermal growth factor receptor inhibitors (EGFR-Is) and immune checkpoint inhibitors (ICIs), are associated with a new spectrum of adverse reactions, with prominent cutaneous toxicities. The impact of cutaneous adverse events (cAEs) on patients' quality of life (QoL) represents an unmet clinical need.OBJECTIVES1) to assess whether cutaneous toxicities directed therapies are effective in reducing the QoL burden via the submission of two patient reported outcome measures (PROMs); 2) to investigate whether class of oncologic therapy, type of cAE and toxicity severity differently impact on patients' QoL.METHODSa prospective observational study was conducted at the Dermatology department of the Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy, from October 2018 to October 2019. Patients aged ≥ 18 years, under therapy with EGFR-Is or ICIs and experiencing a treatment-related cAE were eligible for the study. Dermatology Life Quality Index (DLQI) and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire- Core 30 version 3.0 (EORTC QLQ-C30) were administered to patients at first clinical visit (T0), at 1-month (T1), and at 3-month (T2) dermatological follow-up.RESULTSSixty cAEs of 51 patients have been recorded. A significant difference in the mean score for both DLQI and EORTC QLQ-C30 was found along the 3-months dermatological follow-up (p <0.0001). A similar QoL improvement was reported for PROMs stratified by class of therapy and toxicity severity (p <0.0001). No difference was reported for patients with pyogenic granuloma-like lesions and psoriasiform eruption as per DLQI. Class of therapy and toxicity severity did not differently impact on patients' QoL at selected timepoints; we reported a higher EORTC QLQ-C30 score at T2 for patients developing psoriasiform eruption compared to other types of cAEs.CONCLUSIONSEarly patients' referral to dermatologists and tailored management could result in better QoL.
背景新型肿瘤疗法,包括表皮生长因子受体抑制剂(EGFR-Is)和免疫检查点抑制剂(ICIs),与一系列新的不良反应相关,其中突出的是皮肤毒性。目的1)通过提交两种患者报告结果测量指标(PROMs),评估针对皮肤毒性的疗法是否能有效减轻患者的 QoL 负担;2)研究肿瘤疗法类别、cAE 类型和毒性严重程度是否会对患者的 QoL 产生不同影响。方法一项前瞻性观察研究于2018年10月至2019年10月在意大利罗马Fondazione Policlinico Universitario A. Gemelli IRCCS皮肤科进行。年龄≥18岁、正在接受表皮生长因子受体抑制剂(EGFR-Is)或ICIs治疗并出现治疗相关cAE的患者均符合研究条件。在首次临床就诊(T0)、1个月(T1)和3个月(T2)皮肤病随访时,对患者进行皮肤病生活质量指数(DLQI)和欧洲癌症研究与治疗组织生活质量问卷-核心30版3.0(EORTC QLQ-C30)测试。在 3 个月的皮肤病随访中,发现 DLQI 和 EORTC QLQ-C30 的平均得分有明显差异(P <0.0001)。按治疗类别和毒性严重程度分层的 PROMs 也有类似的 QoL 改善(p <0.0001)。根据 DLQI,化脓性肉芽肿样皮损和银屑病样糜烂患者的 QoL 无差异。在选定的时间点,治疗类别和毒性严重程度对患者的 QoL 没有不同的影响;与其他类型的 cAEs 相比,我们发现银屑病样糜烂患者在 T2 阶段的 EORTC QLQ-C30 得分更高。
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引用次数: 0
Belgian patients of the European Registry for Hidradenitis Suppurativa (ERHS-Be): data, scores and phenotypes since 2015. 欧洲湿疹登记处(ERHS-Be)的比利时患者:2015 年以来的数据、评分和表型。
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-04-15 DOI: 10.1159/000538804
S. Heudens, A.-S. Sarkis, Mathieu Daoud, M. Daxhelet, F. Benhadou, M. Suppa, L. Nobile, J. Karama, H. Njimi, Jonathan M White, V. del Marmol
Introduction Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease, characterized by painful and recurrent lesions in apocrine gland-bearing skin areas. It is a heterogeneous disease, which makes assessment and data collection difficult. Questionnaires with detailed items, such as the Belgian European Registry for Hidradenitis Suppurativa (ERHS-Be), are useful to study HS and its associated comorbidities. The aim of this registry is to uncover new factors associated with HS, understand HS patients' clinical profiles and efficacy of treatments. Material and methods The ERHS-Be registry is based on questionnaires, with sections for socio-demographic data, medical and HS history, clinical examination and treatment plan. It allows identification of different clinical phenotypes and automatic calculation of severity scores. Results At present, 606 patients are included in the ERHS-Be (67% women, 33% men). Mean age at first visit is 38.5 years. Tobacco use is present in 72.6% of patients. A family history of HS is noted in 42% of patients. Comorbidities are documented in this cohort: depression is present in 43.8% of patients, arthritis in 27.8%, obesity in 31.5%, hypertension in 10.6%, diabetes mellitus in 6.4% and dyslipidemia in 12.4%. Moreover, 7.7% of patients suffer from IBD and 27.4% have a pilonidal sinus. History of severe acne is found in 32.1% of patients and psoriasis in 9.3%. Thirteen percent of women in our cohort suffer from polycystic ovarian syndrome. Severity of disease is quantified in 533 patients: for instance, Hurley I, II and III scores proportions are respectively 32.3%, 52.7% and 15%, while the mean IHS4 score is 5.2. This registry also enables determination of relative phenotype proportions in our cohort, according to different classifications. Conclusion The ERHS-Be questionnaires allow systematic and larger data collection, including detailed comorbidities, phenotypes and severity of disease. Analysis of this large database will contribute to a better understanding and management of HS, at a time where new therapeutic options are becoming available.
导言:化脓性扁桃体炎(HS)是一种慢性炎症性皮肤病,其特点是在有分泌腺的皮肤部位出现疼痛和反复发作的皮损。这种疾病具有异质性,因此很难进行评估和数据收集。比利时欧洲湿疹登记处(ERHS-Be)等项目详细的调查问卷有助于研究湿疹及其相关合并症。该登记的目的是发现与 HS 相关的新因素,了解 HS 患者的临床特征和治疗效果。材料和方法 ERHS-Be 登记以调查问卷为基础,其中包括社会人口学数据、病史和 HS 病史、临床检查和治疗计划等部分。它可以识别不同的临床表型,并自动计算严重程度评分。结果 目前,ERHS-Be 共收录了 606 名患者(67% 为女性,33% 为男性)。首次就诊的平均年龄为 38.5 岁。72.6%的患者吸烟。42%的患者有 HS 家族史。该组患者存在合并症:43.8%的患者患有抑郁症,27.8%的患者患有关节炎,31.5%的患者患有肥胖症,10.6%的患者患有高血压,6.4%的患者患有糖尿病,12.4%的患者患有血脂异常。此外,7.7%的患者患有肠结核,27.4%的患者患有皮样窦。32.1%的患者有严重的痤疮史,9.3%的患者有银屑病史。13% 的女性患有多囊卵巢综合征。我们对 533 名患者的疾病严重程度进行了量化:例如,Hurley I、II 和 III 级评分的比例分别为 32.3%、52.7% 和 15%,而 IHS4 的平均评分为 5.2。根据不同的分类,该登记册还能确定我们队列中的相对表型比例。结论 ERHS-Be 问卷可以系统地收集更多数据,包括详细的合并症、表型和疾病严重程度。对这一大型数据库进行分析将有助于更好地了解和管理房颤,因为目前正在出现新的治疗方案。
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引用次数: 0
Efficacy of combinational treatment versus nicotinamide monotherapy in the prevention of ultraviolet radiation-induced skin cancer. 联合疗法与烟酰胺单一疗法在预防紫外线辐射诱发皮肤癌方面的疗效对比。
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-04-10 DOI: 10.1159/000538445
Celina Pihl, F. Andersen, Peter Bjerring, M. Haedersdal, C. Lerche
INTRODUCTIONUltraviolet radiation (UVR) is the primary risk factor for keratinocyte carcinomas (KC). Oral supplementation with nicotinamide (NAM; NAM-mono) is reported to reduce the formation of new KCs. NAM's photoprotection is mediated by enhanced DNA repair. We wanted to explore whether NAM in combination with anti-proliferative (Metformin; Met) or antioxidant (Phloroglucinol; PG) compounds could potentially enhance its photoprotective effects.METHODSHairless mice (C3.Cg-Hrhr/TifBomTac) were treated orally with either a standard dose of NAM monotherapy (600 mg/kg), or NAM (400 mg/kg) combined with Met (200 mg/kg) (NAM-Met) or PG (75 mg/kg) (NAM-PG). Mice were irradiated with 3.5 standard erythema doses of UVR three times per week to induce tumour development. Photoprotective effects were based on i) tumour onset of the first three tumours, ii) skin photodamage, and iii) DNA damage (cyclobutane pyrimidine dimers [CPDs] and pyrimidine-pyrimidone (6-4) photoproducts [6-4PPs]).RESULTSAll mice treated with NAM demonstrated a delay in tumour onset and reduced tumour burden compared to the UV control group (NAM, NAM-Met, NAM-PG vs. UV control: p ≤ 0.015). NAM-mono and NAM-PG increased time until all three tumours with no difference between them, indicating a similar degree of photoprotection. NAM-mono had no effect on DNA damage compared to the UV control group (p > 0.05), whereas NAM-PG reduced 6-4PP lesions (p < 0.01), but not CPDs (p > 0.05) compared to NAM-mono. NAM-Met delayed the onset of the third tumour compared to the UV control but demonstrated a quicker onset compared to NAM-mono, suggesting inferior photoprotection compared to nicotinamide monotherapy.CONCLUSIONNAM-PG was as effective in delaying UVR-induced tumour onset as NAM-mono. The reduction in 6-4PP lesions may indicate that the mechanism of NAM-PG is better suited for photoprotection than NAM-mono. NAM-mono was superior to NAM-Met, indicating a dose-dependency of NAM's photoprotection. These results highlight a potential for combining photoprotective compounds to enhance photoprotection.
简介紫外线辐射(UVR)是角质细胞癌(KC)的主要风险因素。据报道,口服烟酰胺(NAM;NAM-mono)可减少新的 KC 的形成。NAM 的光保护作用是通过增强 DNA 修复来实现的。我们希望探索将 NAM 与抗增殖(二甲双胍;Met)或抗氧化(氯葡萄糖醇;PG)化合物结合使用是否有可能增强其光保护作用。方法用标准剂量的 NAM 单药(600 毫克/千克)或 NAM(400 毫克/千克)与 Met(200 毫克/千克)(NAM-Met)或 PG(75 毫克/千克)(NAM-PG)联合口服治疗无毛小鼠(C3.Cg-Hrhr/TifBomTac)。每周用 3.5 标准红斑剂量的紫外线照射小鼠三次,以诱导肿瘤发生。光保护作用基于 i) 前三个肿瘤的发病情况;ii) 皮肤光损伤;iii) DNA 损伤(环丁烷嘧啶二聚体 [CPDs] 和嘧啶-嘧啶酮(6-4)光产物 [6-4PPs])。结果与紫外线对照组相比,所有接受 NAM 治疗的小鼠的肿瘤发病时间均有所推迟,肿瘤负荷也有所减轻(NAM、NAM-Met、NAM-PG 与紫外线对照组相比:P ≤ 0.015)。NAM-mono 和 NAM-PG 延长了所有三种肿瘤的生长时间,但它们之间没有差异,这表明它们的光保护程度相似。与紫外线对照组相比,NAM-mono 对 DNA 损伤没有影响(p > 0.05),而与 NAM-mono 相比,NAM-PG 可减少 6-4PP 病变(p < 0.01),但不能减少 CPD(p > 0.05)。与紫外线对照组相比,NAM-Met 可延缓第三个肿瘤的发生,但与 NAM-mono 相比,NAM-Met 的发生速度更快,这表明与烟酰胺单一疗法相比,NAM-PG 的光保护效果更差。6-4PP 病变的减少可能表明,NAM-PG 的光保护机制比 NAM-mono 更为适合。NAM-mono 优于 NAM-Met,这表明 NAM 的光保护作用与剂量有关。这些结果凸显了结合光保护化合物以增强光保护作用的潜力。
{"title":"Efficacy of combinational treatment versus nicotinamide monotherapy in the prevention of ultraviolet radiation-induced skin cancer.","authors":"Celina Pihl, F. Andersen, Peter Bjerring, M. Haedersdal, C. Lerche","doi":"10.1159/000538445","DOIUrl":"https://doi.org/10.1159/000538445","url":null,"abstract":"INTRODUCTION\u0000Ultraviolet radiation (UVR) is the primary risk factor for keratinocyte carcinomas (KC). Oral supplementation with nicotinamide (NAM; NAM-mono) is reported to reduce the formation of new KCs. NAM's photoprotection is mediated by enhanced DNA repair. We wanted to explore whether NAM in combination with anti-proliferative (Metformin; Met) or antioxidant (Phloroglucinol; PG) compounds could potentially enhance its photoprotective effects.\u0000\u0000\u0000METHODS\u0000Hairless mice (C3.Cg-Hrhr/TifBomTac) were treated orally with either a standard dose of NAM monotherapy (600 mg/kg), or NAM (400 mg/kg) combined with Met (200 mg/kg) (NAM-Met) or PG (75 mg/kg) (NAM-PG). Mice were irradiated with 3.5 standard erythema doses of UVR three times per week to induce tumour development. Photoprotective effects were based on i) tumour onset of the first three tumours, ii) skin photodamage, and iii) DNA damage (cyclobutane pyrimidine dimers [CPDs] and pyrimidine-pyrimidone (6-4) photoproducts [6-4PPs]).\u0000\u0000\u0000RESULTS\u0000All mice treated with NAM demonstrated a delay in tumour onset and reduced tumour burden compared to the UV control group (NAM, NAM-Met, NAM-PG vs. UV control: p ≤ 0.015). NAM-mono and NAM-PG increased time until all three tumours with no difference between them, indicating a similar degree of photoprotection. NAM-mono had no effect on DNA damage compared to the UV control group (p > 0.05), whereas NAM-PG reduced 6-4PP lesions (p < 0.01), but not CPDs (p > 0.05) compared to NAM-mono. NAM-Met delayed the onset of the third tumour compared to the UV control but demonstrated a quicker onset compared to NAM-mono, suggesting inferior photoprotection compared to nicotinamide monotherapy.\u0000\u0000\u0000CONCLUSION\u0000NAM-PG was as effective in delaying UVR-induced tumour onset as NAM-mono. The reduction in 6-4PP lesions may indicate that the mechanism of NAM-PG is better suited for photoprotection than NAM-mono. NAM-mono was superior to NAM-Met, indicating a dose-dependency of NAM's photoprotection. These results highlight a potential for combining photoprotective compounds to enhance photoprotection.","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140718362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Response to "A Bibliometrics of the Treatment of Alopecia Areata in the Past Twenty Years". 回应 "过去二十年治疗脱发症的文献计量学"。
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-04-10 DOI: 10.1159/000538801
Ambika Nohria, Deesha Desai, K. Lo Sicco, Jerry Shapiro
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引用次数: 0
Clinical and pathological features of pilomatrixoma in children: a retrospective study. 儿童朝天鼻瘤的临床和病理特征:一项回顾性研究。
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-04-10 DOI: 10.1159/000538802
Hongyang Fu, Changbing Shen, Bo Wu, Tingting Wang, Jiutong Wu, Yaqin Li, Juan Ding, Jing Gao
Introduction Pilomatrixoma is a benign skin neoplasm that is common in children and is often misdiagnosed. This study aimed to summarize the clinical and pathological features of pilomatrixoma in children. Methods Data on demographic information, clinical and pathological features, diagnosis, and treatment of 171 patients with pilomatrixoma from Shenzhen Baoan Women's and Children's Hospital were collected and analyzed retrospectively. Results The mean age of the patients was 5.7 (standard deviation (SD) = 3.9) year-old, and there were two age peaks (≤1 year-old, 5-11 years old) and two age valleys (2-4 years old, ≥ 12 years old). The mean disease course was 9.3 (SD = 14.1) months, 69.0%, 86.5%, and 95.3% of the patients' disease course in 6 months, 12 months, and 24 months, respectively. The mean tumor volume is 0.6 (SD = 1.0) cm3, 81.3% of the patients' tumor volume ≤ 1.0 cm3. Tumors were distributed sequentially in the head and neck (77.2%), upper limbs (12.9%), trunk (7.6%), and lower limbs (2.3%). The correct rates of clinical and ultrasonic diagnosis were 50.9% and 38.6%, respectively. The two most common pathological features of pilomatrixoma were shadow cells (99.4%) and basaloid cells (94.7%). There were no significant differences in age, disease course, or tumor volume between the male and female patients (P > 0.05). The age and tumor volume of the patients in different body parts were significantly different (P1 = 3.10E-05 and P2 = 5.60E-05, respectively). The correlation between the disease course and tumor volume was positively significant (P ≤ 0.05). There was a significantly correlation between the disease course and tumor volume in patients with tumors at upper limbs (P = 0.03). Conclusion The age of children with pilomatrixoma presented two peaks and two valleys. Most patients had disease courses in 24 months and with tumor volumes ≤ 1.0 cm3. The correct rates of clinical and ultrasonic diagnosis were relatively low. The head and neck are the most common distribution sites of pilomatrixoma, shadow cells and basaloid cells are the most common pathological features. The tumor volume is positively correlated with disease course in patients with pilomatrixoma.
引言 绒毛膜瘤是一种常见于儿童的良性皮肤肿瘤,常被误诊。本研究旨在总结儿童乳头状瘤的临床和病理特征。方法 收集深圳市宝安区妇幼保健院171例乳头状瘤患者的人口学资料、临床和病理学特征、诊断和治疗资料,并进行回顾性分析。结果 患者平均年龄为5.7(标准差(SD)=3.9)岁,有两个年龄高峰(≤1岁、5-11岁)和两个年龄低谷(2-4岁、≥12岁)。平均病程为 9.3 个月(SD = 14.1),6 个月、12 个月和 24 个月分别占患者病程的 69.0%、86.5% 和 95.3%。平均肿瘤体积为0.6(SD = 1.0)立方厘米,81.3%的患者肿瘤体积小于1.0立方厘米。肿瘤依次分布在头颈部(77.2%)、上肢(12.9%)、躯干(7.6%)和下肢(2.3%)。临床诊断和超声诊断的正确率分别为 50.9% 和 38.6%。最常见的两个病理特征是阴影细胞(99.4%)和基底细胞(94.7%)。男女患者在年龄、病程和肿瘤体积方面无明显差异(P>0.05)。不同身体部位患者的年龄和肿瘤体积有显著差异(P1 = 3.10E-05 和 P2 = 5.60E-05)。病程与肿瘤体积呈正相关(P≤0.05)。上肢肿瘤患者的病程与肿瘤体积有明显相关性(P = 0.03)。结论 绒毛膜母细胞瘤患儿的年龄呈现两个高峰和两个低谷。大多数患者的病程为24个月,肿瘤体积小于1.0立方厘米。临床诊断和超声诊断的正确率相对较低。头颈部是皮瘤最常见的分布部位,阴影细胞和基底细胞是最常见的病理特征。肿瘤体积与朝天鼻瘤患者的病程呈正相关。
{"title":"Clinical and pathological features of pilomatrixoma in children: a retrospective study.","authors":"Hongyang Fu, Changbing Shen, Bo Wu, Tingting Wang, Jiutong Wu, Yaqin Li, Juan Ding, Jing Gao","doi":"10.1159/000538802","DOIUrl":"https://doi.org/10.1159/000538802","url":null,"abstract":"Introduction Pilomatrixoma is a benign skin neoplasm that is common in children and is often misdiagnosed. This study aimed to summarize the clinical and pathological features of pilomatrixoma in children. Methods Data on demographic information, clinical and pathological features, diagnosis, and treatment of 171 patients with pilomatrixoma from Shenzhen Baoan Women's and Children's Hospital were collected and analyzed retrospectively. Results The mean age of the patients was 5.7 (standard deviation (SD) = 3.9) year-old, and there were two age peaks (≤1 year-old, 5-11 years old) and two age valleys (2-4 years old, ≥ 12 years old). The mean disease course was 9.3 (SD = 14.1) months, 69.0%, 86.5%, and 95.3% of the patients' disease course in 6 months, 12 months, and 24 months, respectively. The mean tumor volume is 0.6 (SD = 1.0) cm3, 81.3% of the patients' tumor volume ≤ 1.0 cm3. Tumors were distributed sequentially in the head and neck (77.2%), upper limbs (12.9%), trunk (7.6%), and lower limbs (2.3%). The correct rates of clinical and ultrasonic diagnosis were 50.9% and 38.6%, respectively. The two most common pathological features of pilomatrixoma were shadow cells (99.4%) and basaloid cells (94.7%). There were no significant differences in age, disease course, or tumor volume between the male and female patients (P > 0.05). The age and tumor volume of the patients in different body parts were significantly different (P1 = 3.10E-05 and P2 = 5.60E-05, respectively). The correlation between the disease course and tumor volume was positively significant (P ≤ 0.05). There was a significantly correlation between the disease course and tumor volume in patients with tumors at upper limbs (P = 0.03). Conclusion The age of children with pilomatrixoma presented two peaks and two valleys. Most patients had disease courses in 24 months and with tumor volumes ≤ 1.0 cm3. The correct rates of clinical and ultrasonic diagnosis were relatively low. The head and neck are the most common distribution sites of pilomatrixoma, shadow cells and basaloid cells are the most common pathological features. The tumor volume is positively correlated with disease course in patients with pilomatrixoma.","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140717227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients. 常染色体隐性先天性鱼鳞病横断面研究:74 名意大利患者的基因型与疾病严重程度、表型和超微结构特征的关系。
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-04-08 DOI: 10.1159/000536366
A. Diociaiuti, M. Corbeddu, Sabrina Rossi, E. Pisaneschi, C. Cesario, A. Condorelli, Tonia Samela, S. Giancristoforo, Adriano Angioni, Giovanna Zambruno, Antonio Novelli, Rita Alaggio, Damiano Abeni, M. El Hachem
BACKGROUNDAutosomal recessive congenital ichthyoses (ARCI) are a clinically heterogeneous group of keratinization disorders characterized by generalized skin scaling due to mutations in at least 12 genes. The aim of our study was to assess disease severity, phenotypic and ultrastructural features and to evaluate their association with genetic findings in ARCI patients.METHODSClinical signs and symptoms, and disease severity were scored in a single-center series of patients with a genetic diagnosis of ARCI. Skin ultrastructural findings were reviewed.RESULTSSeventy-four consecutive patients (mean age 11.0 years, range 0.1-48.8) affected with lamellar ichthyosis (50/74, 67.5%), congenital ichthyosiform erythroderma (18/74, 24.3%), harlequin ichthyosis (two/74, 2.7%), and other minor ARCI subtypes (four/74, 5.4%) were enrolled. Mutated genes were: TGM1 in 18/74 (24.3%) patients, ALOX12B in 18/74 (24.3%), CYP4F22 in 12/74 (16.2%), ABCA12 in nine/74 (12.2%), ALOXE3 in seven/74 (9.5%), NIPAL4 in seven/74 (9.5%), and CERS3, PNPLA1 and SDR9C7 in one patient each (1.4%). Twenty-five previously undescribed mutations in the different ARCI causative genes, as well as two microduplications in TGM1, and two microdeletions in CYP4F22 and NIPAL4 were identified. The mean ichthyosis severity score in TGM1 and ABCA12-mutated patients was significantly higher than in all other mutated genes, while the lowest score was observed in CYP4F22-mutated patients. Alopecia, ectropion, and eclabium were significantly associated with TGM1 and ABCA12 mutations, and large, thick and brownish scales with TGM1 mutations. Among specific phenotypic features, psoriasis-like lesions as well as a trunk reticulate scale pattern and striated keratoderma were present in NIPAL4-mutated patients. Ultrastructural data available for 56 patients showed a 100% specificity of cholesterol clefts for TGM1-mutated cases, and revealed abnormal lamellar bodies in SDR9C7 and CERS3 patients.CONCLUSIONOur study expands the phenotypic and genetic characterization of ARCI by the description of statistically significant associations between disease severity, specific clinical signs, and different mutated genes. Finally, we highlighted the presence of psoriasis-like lesions in NIPAL4-ARCI patients as a novel phenotypic feature with diagnostic and possible therapeutic implications.
背景常染色体隐性遗传先天性鱼鳞病(ARCI)是一组临床上异质性的角化障碍性疾病,其特征是由于至少 12 个基因的突变导致全身皮肤脱屑。我们的研究旨在评估 ARCI 患者的疾病严重程度、表型和超微结构特征,并评价它们与遗传结果之间的关联。方法对单中心系列 ARCI 遗传诊断患者的临床体征和症状以及疾病严重程度进行评分。结果连续有74名患者(平均年龄11.0岁,年龄范围0.1-48.8岁)患有板层状鱼鳞病(50/74,67.5%)、先天性鱼鳞状红皮病(18/74,24.3%)、鱼鳞病(2/74,2.7%)和其他轻微的ARCI亚型(4/74,5.4%)。突变基因有18/74(24.3%)例患者的 TGM1、18/74(24.3%)例患者的 ALOX12B、12/74(16.2%)例患者的 CYP4F22、9/74(12.2%)例患者的 ABCA12、7/74(9.5%)例患者的 ALOXE3、7/74(9.5%)例患者的 NIPAL4,以及 1/74(1.4%)例患者的 CERS3、PNPLA1 和 SDR9C7。在不同的ARCI致病基因中发现了25个以前未曾描述过的突变,以及TGM1中的两个微重复、CYP4F22和NIPAL4中的两个微缺失。TGM1和ABCA12基因突变患者的平均鱼鳞病严重程度评分明显高于所有其他基因突变患者,而CYP4F22基因突变患者的评分最低。脱发、外翻和clabium与TGM1和ABCA12基因突变明显相关,而大块、厚和褐色鳞屑与TGM1基因突变明显相关。在具体的表型特征中,NIPAL4 基因突变患者会出现牛皮癣样皮损、躯干网状鳞屑模式和条纹状角化病。56 例患者的超微结构数据显示,TGM1 突变病例的胆固醇裂隙特异性为 100%,SDR9C7 和 CERS3 患者的异常片状体也被发现。最后,我们强调了 NIPAL4-ARCI 患者中银屑病样皮损的存在,这是一种新的表型特征,具有诊断和可能的治疗意义。
{"title":"Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients.","authors":"A. Diociaiuti, M. Corbeddu, Sabrina Rossi, E. Pisaneschi, C. Cesario, A. Condorelli, Tonia Samela, S. Giancristoforo, Adriano Angioni, Giovanna Zambruno, Antonio Novelli, Rita Alaggio, Damiano Abeni, M. El Hachem","doi":"10.1159/000536366","DOIUrl":"https://doi.org/10.1159/000536366","url":null,"abstract":"BACKGROUND\u0000Autosomal recessive congenital ichthyoses (ARCI) are a clinically heterogeneous group of keratinization disorders characterized by generalized skin scaling due to mutations in at least 12 genes. The aim of our study was to assess disease severity, phenotypic and ultrastructural features and to evaluate their association with genetic findings in ARCI patients.\u0000\u0000\u0000METHODS\u0000Clinical signs and symptoms, and disease severity were scored in a single-center series of patients with a genetic diagnosis of ARCI. Skin ultrastructural findings were reviewed.\u0000\u0000\u0000RESULTS\u0000Seventy-four consecutive patients (mean age 11.0 years, range 0.1-48.8) affected with lamellar ichthyosis (50/74, 67.5%), congenital ichthyosiform erythroderma (18/74, 24.3%), harlequin ichthyosis (two/74, 2.7%), and other minor ARCI subtypes (four/74, 5.4%) were enrolled. Mutated genes were: TGM1 in 18/74 (24.3%) patients, ALOX12B in 18/74 (24.3%), CYP4F22 in 12/74 (16.2%), ABCA12 in nine/74 (12.2%), ALOXE3 in seven/74 (9.5%), NIPAL4 in seven/74 (9.5%), and CERS3, PNPLA1 and SDR9C7 in one patient each (1.4%). Twenty-five previously undescribed mutations in the different ARCI causative genes, as well as two microduplications in TGM1, and two microdeletions in CYP4F22 and NIPAL4 were identified. The mean ichthyosis severity score in TGM1 and ABCA12-mutated patients was significantly higher than in all other mutated genes, while the lowest score was observed in CYP4F22-mutated patients. Alopecia, ectropion, and eclabium were significantly associated with TGM1 and ABCA12 mutations, and large, thick and brownish scales with TGM1 mutations. Among specific phenotypic features, psoriasis-like lesions as well as a trunk reticulate scale pattern and striated keratoderma were present in NIPAL4-mutated patients. Ultrastructural data available for 56 patients showed a 100% specificity of cholesterol clefts for TGM1-mutated cases, and revealed abnormal lamellar bodies in SDR9C7 and CERS3 patients.\u0000\u0000\u0000CONCLUSION\u0000Our study expands the phenotypic and genetic characterization of ARCI by the description of statistically significant associations between disease severity, specific clinical signs, and different mutated genes. Finally, we highlighted the presence of psoriasis-like lesions in NIPAL4-ARCI patients as a novel phenotypic feature with diagnostic and possible therapeutic implications.","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140730336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring Remission Dynamics and Prognostic Factors in Lichen Planopilaris: a Retrospective Cohort Study. 探索扁平苔藓的缓解动态和预后因素:一项回顾性队列研究。
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-04-04 DOI: 10.1159/000538355
A. Lyakhovitsky, T. Zilberminz, Z. Segal, E. Galili, A. Shemer, B. Jaworowsk, S. Baum, V. Hermush, B. Kaplan, A. Barzilai
INTRODUCTIONLichen planopilaris (LPP) is a common type of primary cicatricial alopecia. Previous studies focused on the epidemiology, clinical characteristics, and treatment of LPP. A lack of knowledge regarding LPP outcomes and prognostic factors remained.METHODSTo delineate the rate and timing of remission in LPP, as well as the prognostic factors for achieving remission, a retrospective cohort study was conducted. The study included 126 patients, from a single tertiary center, diagnosed with LPP between January 2010 and December 2022, who were followed up for a minimum of 6 months.RESULTSThere were 89 (70.6%) women and 37 (29.4 %) men included in this study. The mean age of the patients was 47.92±14.2 years. The mean time from disease onset to diagnosis was 33.85 (±30) months, indicating significant diagnostic delays. The mean duration of follow-up was 34.13±22.7 months. Among the cohort, 43 patients achieved complete remission (CR) during the follow-up period, whereas 83 patients did not. Of the 83 patients who did not achieve CR, 35 partially improved and 48 did not improve or worsened. The median time for achieving CR was 46±18.8 months. Milder disease at presentation and comorbid lichen planus were associated with higher CR rates.CONCLUSIONThis study demonstrates significant diagnostic delays that should be addressed as LPP causes irreversible alopecia, suggests disease severity and comorbid lichen planus as potential prognostic factors. Further, it emphasizes the limited efficacy of current treatments and the need for prolonged treatment in patients with LPP to achieve remission.
简介扁平苔藓(LPP)是一种常见的原发性卡他性脱发。以往的研究主要集中在 LPP 的流行病学、临床特征和治疗方面。方法为了明确LPP的缓解率、缓解时间以及达到缓解的预后因素,我们进行了一项回顾性队列研究。该研究纳入了来自一家三级医疗中心的 126 名患者,这些患者在 2010 年 1 月至 2022 年 12 月期间被诊断为 LPP,并接受了至少 6 个月的随访。结果该研究纳入了 89 名女性(70.6%)和 37 名男性(29.4%)。患者的平均年龄为(47.92±14.2)岁。从发病到确诊的平均时间为 33.85(±30)个月,这表明诊断存在明显延迟。平均随访时间为(34.13±22.7)个月。其中,43 名患者在随访期间获得了完全缓解(CR),83 名患者没有获得完全缓解。在 83 名未达到 CR 的患者中,35 人病情部分好转,48 人病情未见好转或恶化。达到 CR 的中位时间为 46±18.8 个月。结论:这项研究表明,由于 LPP 会导致不可逆的脱发,因此应解决诊断上的重大延误问题,并提示疾病严重程度和合并扁平苔藓是潜在的预后因素。此外,该研究还强调了目前治疗方法的有限疗效,以及对 LPP 患者进行长期治疗以达到缓解的必要性。
{"title":"Exploring Remission Dynamics and Prognostic Factors in Lichen Planopilaris: a Retrospective Cohort Study.","authors":"A. Lyakhovitsky, T. Zilberminz, Z. Segal, E. Galili, A. Shemer, B. Jaworowsk, S. Baum, V. Hermush, B. Kaplan, A. Barzilai","doi":"10.1159/000538355","DOIUrl":"https://doi.org/10.1159/000538355","url":null,"abstract":"INTRODUCTION\u0000Lichen planopilaris (LPP) is a common type of primary cicatricial alopecia. Previous studies focused on the epidemiology, clinical characteristics, and treatment of LPP. A lack of knowledge regarding LPP outcomes and prognostic factors remained.\u0000\u0000\u0000METHODS\u0000To delineate the rate and timing of remission in LPP, as well as the prognostic factors for achieving remission, a retrospective cohort study was conducted. The study included 126 patients, from a single tertiary center, diagnosed with LPP between January 2010 and December 2022, who were followed up for a minimum of 6 months.\u0000\u0000\u0000RESULTS\u0000There were 89 (70.6%) women and 37 (29.4 %) men included in this study. The mean age of the patients was 47.92±14.2 years. The mean time from disease onset to diagnosis was 33.85 (±30) months, indicating significant diagnostic delays. The mean duration of follow-up was 34.13±22.7 months. Among the cohort, 43 patients achieved complete remission (CR) during the follow-up period, whereas 83 patients did not. Of the 83 patients who did not achieve CR, 35 partially improved and 48 did not improve or worsened. The median time for achieving CR was 46±18.8 months. Milder disease at presentation and comorbid lichen planus were associated with higher CR rates.\u0000\u0000\u0000CONCLUSION\u0000This study demonstrates significant diagnostic delays that should be addressed as LPP causes irreversible alopecia, suggests disease severity and comorbid lichen planus as potential prognostic factors. Further, it emphasizes the limited efficacy of current treatments and the need for prolonged treatment in patients with LPP to achieve remission.","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":null,"pages":null},"PeriodicalIF":3.4,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140746157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Use of Super-Bioavailable Itraconazole for the Management of Dermatophytosis: Consensus Statement by Dermatologists from India via the Modified Delphi Technique. 超生物活性伊曲康唑在治疗皮肤癣菌病中的临床应用:印度皮肤科医生通过改良德尔菲技术达成的共识声明。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2024-05-03 DOI: 10.1159/000538080
Abir Saraswat, Sunil Dogra, Manjunath Shenoy, Shyam Verma, Seetharam K, Sunil Ghate, Anil Ganjoo, Sanjeev Aurangabadkar, Anurag Tiwari, Shital Poojary, Arun Inamdar, Imran Majid, Mukesh Girdhar, Bela Shah, Sachin Varma, Ramkumar Ramamoorthy, Dhiraj Dhoot, Hanmant Barkate

Super-bioavailable itraconazole (SB ITZ) overcomes the limitations of conventional itraconazole (CITZ) such as interindividual variability and reduced bioavailability. It has been approved for systemic mycoses in Australia and Europe as 50 mg and the USA as 65 mg and in India as 50 mg, 65 mg, 100 mg, and 130 mg. However, data on the ideal dose and duration of SB ITZ treatment in managing dermatophytosis are insufficient. This consensus discusses the suitability, dosage, duration of treatment, and relevance of using SB ITZ in managing dermatophytosis in different clinical scenarios. Sixteen dermatologists (>15 years of experience in the field and ≥2 years clinical experience with SB ITZ), formed the expert panel. A modified Delphi technique was employed, and a consensus was reached if the concordance in response was >75%. A total of 26 consensus statements were developed. The preferred dose of SB ITZ is 130 mg once daily and if not tolerated, 65 mg twice daily. The preferred duration for treating naïve dermatophytosis is 4-6 weeks and that for recalcitrant dermatophytosis is 6-8 weeks. Moreover, cure rates for dermatophytosis are a little better with SB ITZ than with CITZ with a similar safety profile as of CITZ. Better patient compliance and efficacy are associated with SB ITZ than with CITZ, even in patients with comorbidities and special needs such as patients with diabetes, extensive lesions, corticosteroid abuse, adolescents, and those on multiple drugs. Expert clinicians reported that the overall clinical experience with SB ITZ was better than that with CITZ.

简介:超生物利用型伊曲康唑(SB ITZ)克服了传统伊曲康唑(CITZ)的局限性,如个体间差异性和生物利用度降低。在澳大利亚和欧洲,它被批准用于治疗全身性真菌病,剂量为 50 毫克;在美国,剂量为 65 毫克;在印度,剂量为 50 毫克、65 毫克、100 毫克和 130 毫克。然而,有关 SB ITZ 治疗皮癣菌病的理想剂量和疗程的数据尚不充分。本共识讨论了在不同临床情况下使用 SB ITZ 治疗皮肤癣菌病的适宜性、剂量、疗程和相关性:16位皮肤科医生(在该领域有超过15年的经验,使用SB ITZ的临床经验≥2年)组成了专家小组。采用改良的德尔菲技术,如果答复的一致性大于 75%,则达成共识:结果:共达成了 26 项共识。SB ITZ的首选剂量为130毫克,每天一次;如果不能耐受,则为65毫克,每天两次。治疗新生皮癣的首选疗程为 4-6 周,治疗顽固皮癣的首选疗程为 6-8 周。此外,在安全性与 CITZ 相似的情况下,SB ITZ 的皮癣治愈率略高于 CITZ。与 CITZ 相比,SB ITZ 的患者依从性和疗效更好,即使是合并症患者和有特殊需求的患者,如糖尿病患者、皮损范围广的患者、滥用皮质类固醇的患者、青少年以及服用多种药物的患者也是如此:专家意见表明,SB ITZ 的总体临床经验优于 CITZ。
{"title":"Clinical Use of Super-Bioavailable Itraconazole for the Management of Dermatophytosis: Consensus Statement by Dermatologists from India via the Modified Delphi Technique.","authors":"Abir Saraswat, Sunil Dogra, Manjunath Shenoy, Shyam Verma, Seetharam K, Sunil Ghate, Anil Ganjoo, Sanjeev Aurangabadkar, Anurag Tiwari, Shital Poojary, Arun Inamdar, Imran Majid, Mukesh Girdhar, Bela Shah, Sachin Varma, Ramkumar Ramamoorthy, Dhiraj Dhoot, Hanmant Barkate","doi":"10.1159/000538080","DOIUrl":"10.1159/000538080","url":null,"abstract":"<p><p>Super-bioavailable itraconazole (SB ITZ) overcomes the limitations of conventional itraconazole (CITZ) such as interindividual variability and reduced bioavailability. It has been approved for systemic mycoses in Australia and Europe as 50 mg and the USA as 65 mg and in India as 50 mg, 65 mg, 100 mg, and 130 mg. However, data on the ideal dose and duration of SB ITZ treatment in managing dermatophytosis are insufficient. This consensus discusses the suitability, dosage, duration of treatment, and relevance of using SB ITZ in managing dermatophytosis in different clinical scenarios. Sixteen dermatologists (&gt;15 years of experience in the field and ≥2 years clinical experience with SB ITZ), formed the expert panel. A modified Delphi technique was employed, and a consensus was reached if the concordance in response was &gt;75%. A total of 26 consensus statements were developed. The preferred dose of SB ITZ is 130 mg once daily and if not tolerated, 65 mg twice daily. The preferred duration for treating naïve dermatophytosis is 4-6 weeks and that for recalcitrant dermatophytosis is 6-8 weeks. Moreover, cure rates for dermatophytosis are a little better with SB ITZ than with CITZ with a similar safety profile as of CITZ. Better patient compliance and efficacy are associated with SB ITZ than with CITZ, even in patients with comorbidities and special needs such as patients with diabetes, extensive lesions, corticosteroid abuse, adolescents, and those on multiple drugs. Expert clinicians reported that the overall clinical experience with SB ITZ was better than that with CITZ.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140862299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Drug-Induced and Malignancy-Associated Neutrophilic Dermatoses in Patients with Hematologic Malignancies: A Single Institution Experience. 血液系统恶性肿瘤患者中由药物诱发和恶性肿瘤相关的嗜中性皮肤病:单个机构的经验。
IF 3 3区 医学 Q2 DERMATOLOGY Pub Date : 2024-01-01 Epub Date: 2024-05-29 DOI: 10.1159/000539565
Mallory deCampos-Stairiker, Shannon Kody, Gabrielle Meyers, Julia Maxson, Alex G Ortega-Loayza

Introduction: Neutrophilic dermatoses (NDs) often occur secondary to inflammatory conditions, medication exposure, and hematologic malignancy. While malignancy-associated NDs (MA-NDs) have been well reported among those with hematologic cancers, little is known about drug-induced NDs (DI-NDs) within this population. The objective of this study was to compare the presentations and outcomes of patients with hematologic malignancies who developed MA-NDs and DI-NDs.

Methods: Cases of ND occurring between 2013 and 2023 among those with hematologic malignancies were identified from the electronic medical records of our institution. Patient characteristics, recent medication exposures, cancer mutations, and disease outcomes were reviewed. Patients were categorized with DI-ND if they were recently exposed to one of four medications known to be commonly associated with ND or were otherwise categorized with MA-ND. We report a descriptive analysis of cases of DI-ND and MA-ND.

Results: We identified 52 patients with ND and co-occurring hematologic malignancy including 16 cases of DI-ND (30.8%) and 36 cases of MA-ND (69.2%). The most common ND in both groups was Sweet's syndrome. Chronic underlying conditions including solid tumors, inflammatory disorders, chronic viral infection, and tobacco use were more common among those with MA-ND. Among those with DI-ND, tyrosine kinase inhibitors were the most commonly associated drugs (43.8%). The most common cancer mutation among those with DI-ND was FLT3 (43.8%), while the most common mutation among those with MA-ND was TP-53 (19.4%). Among those who had died at the time of data collection, 90.0% of those with DI-ND and 66.7% of those with MA-ND died within 1 year of ND diagnosis.

Conclusion: Most cases of ND occurring with hematologic malignancies develop secondary to cancer rather than drug exposure. Different cancer mutations may predispose to DI-ND and MA-ND. Further research is needed to establish diagnostic criteria for DI-ND and to determine the pathogenic role of specific cancer mutations, particularly FLT3, in the development of ND.

导言:中性粒细胞皮肤病(NDs)通常继发于炎症、药物接触和血液系统恶性肿瘤。虽然恶性肿瘤相关性 NDs(MA-NDs)在血液癌症患者中已有大量报道,但对这一人群中药物诱发的 NDs(DI-NDs)却知之甚少。本研究的目的是比较发生 MA-NDs 和 DI-NDs 的血液系统恶性肿瘤患者的表现和预后:方法:从本机构的电子病历中找出了 2013 年至 2023 年间发生在血液系统恶性肿瘤患者中的嗜中性皮肤病(ND)病例。回顾了患者特征、近期药物暴露、癌症突变和疾病结局。如果患者最近接触了已知常与 ND 相关的四种药物中的一种,则将其归类为药物诱导 ND(DI-ND),否则将其归类为恶性肿瘤相关 ND(MA-ND)。我们报告了对 DI-ND 和 MA-ND 病例的描述性分析:结果:我们发现了 52 例 ND 和并发血液系统恶性肿瘤的患者,其中包括 16 例 DI-ND(30.8%)和 36 例 MA-ND(69.2%)。两组患者中最常见的 ND 均为斯威特综合征。在 MA-ND 患者中,包括实体瘤、炎症性疾病、慢性病毒感染和吸烟在内的慢性基础疾病更为常见。在DI-ND患者中,酪氨酸激酶抑制剂是最常见的相关药物(43.8%)。在DI-ND患者中,最常见的癌症突变是FLT3(43.8%),而在MA-ND患者中,最常见的突变是TP-53(19.4%)。在收集数据时已经死亡的患者中,90.0%的DI-ND患者和66.7%的MA-ND患者在ND确诊后一年内死亡:结论:大多数血液系统恶性肿瘤的 ND 病例都是继发于癌症而非药物接触。不同的癌症突变可能导致 DI-ND 和 MA-ND。需要开展进一步研究,以确立 DI-ND 的诊断标准,并确定特定癌症突变(尤其是 FLT3)在 ND 发病中的致病作用。
{"title":"Drug-Induced and Malignancy-Associated Neutrophilic Dermatoses in Patients with Hematologic Malignancies: A Single Institution Experience.","authors":"Mallory deCampos-Stairiker, Shannon Kody, Gabrielle Meyers, Julia Maxson, Alex G Ortega-Loayza","doi":"10.1159/000539565","DOIUrl":"10.1159/000539565","url":null,"abstract":"<p><strong>Introduction: </strong>Neutrophilic dermatoses (NDs) often occur secondary to inflammatory conditions, medication exposure, and hematologic malignancy. While malignancy-associated NDs (MA-NDs) have been well reported among those with hematologic cancers, little is known about drug-induced NDs (DI-NDs) within this population. The objective of this study was to compare the presentations and outcomes of patients with hematologic malignancies who developed MA-NDs and DI-NDs.</p><p><strong>Methods: </strong>Cases of ND occurring between 2013 and 2023 among those with hematologic malignancies were identified from the electronic medical records of our institution. Patient characteristics, recent medication exposures, cancer mutations, and disease outcomes were reviewed. Patients were categorized with DI-ND if they were recently exposed to one of four medications known to be commonly associated with ND or were otherwise categorized with MA-ND. We report a descriptive analysis of cases of DI-ND and MA-ND.</p><p><strong>Results: </strong>We identified 52 patients with ND and co-occurring hematologic malignancy including 16 cases of DI-ND (30.8%) and 36 cases of MA-ND (69.2%). The most common ND in both groups was Sweet's syndrome. Chronic underlying conditions including solid tumors, inflammatory disorders, chronic viral infection, and tobacco use were more common among those with MA-ND. Among those with DI-ND, tyrosine kinase inhibitors were the most commonly associated drugs (43.8%). The most common cancer mutation among those with DI-ND was FLT3 (43.8%), while the most common mutation among those with MA-ND was TP-53 (19.4%). Among those who had died at the time of data collection, 90.0% of those with DI-ND and 66.7% of those with MA-ND died within 1 year of ND diagnosis.</p><p><strong>Conclusion: </strong>Most cases of ND occurring with hematologic malignancies develop secondary to cancer rather than drug exposure. Different cancer mutations may predispose to DI-ND and MA-ND. Further research is needed to establish diagnostic criteria for DI-ND and to determine the pathogenic role of specific cancer mutations, particularly FLT3, in the development of ND.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":null,"pages":null},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141174716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bacterial Skin Dysbiosis in Darier Disease. 达里尔病的细菌性皮肤菌群失调。
IF 3.4 3区 医学 Q1 Medicine Pub Date : 2024-01-01 Epub Date: 2024-02-08 DOI: 10.1159/000537714
Ofer Reiter, Avner Leshem, Rivka Alexander-Shani, Michael Brandwein, Yotam Cohen, Algit Yeshurun, Michael Ziv, Eran Elinav, Emmilia Hodak, Roni P Dodiuk-Gad

Introduction: Darier disease is a rare inherited disease with dominant skin manifestations including keratotic papules and plaques on sebaceous and flexural areas. Secondary infection of skin lesions is common, and Staphylococcus aureus commonly colonizes these lesions. The aim of the study was to characterize the bacterial microbiome of cutaneous Darier lesions compared to normal-looking skin and disease severity.

Methods: All patients with a history of Darier followed up at Emek Medical Center were invited to participate in the study. Patients that did not use antibiotics in the past month and signed informed consent had four skin sites sampled with swabs: scalp, chest, axilla, and palm. All samples were analyzed for bacterial microbiome using 16S rDNA sequencing.

Results: Two hundred and eighty microbiome samples obtained from lesional and non-lesional skin of the scalp, chest, axilla, and palm of 42 Darier patients were included in the analysis. The most abundant bacterial genera across all skin sites were Propionibacterium, Corynebacterium, Paracoccus, Micrococcus, and Anaerococcus. Scalp and chest lesions featured a distinct microbiome configuration that was mainly driven by an overabundance of Staphylococci species. Patients with more severe disease exhibited microbiome alterations in the chest, axilla, and palm compared with patients with only mild disease, driven by Peptoniphilus and Moryella genera in scalp and palmar lesions, respectively.

Conclusion: Staphylococci were significantly associated with Darier lesions and drove Darier-associated dysbiosis. Severity of the disease was associated with two other bacterial genera. Whether these associations also hold a causative role and may serve as a therapeutic target remains to be determined and requires further investigation.

简介达里尔病是一种罕见的遗传性疾病,主要皮肤表现为皮脂腺和挠曲部位的角化性丘疹和斑块。皮损的继发感染很常见,金黄色葡萄球菌通常在这些皮损上定植。本研究的目的是分析皮肤达里尔病变的细菌微生物组与正常皮肤和疾病严重程度的比较:方法:邀请埃梅克医疗中心随访的所有达里尔病史患者参与研究。过去一个月未使用抗生素并签署知情同意书的患者用棉签采集了四个部位的皮肤样本:头皮、胸部、腋窝和手掌。使用 16S rDNA 测序法对所有样本进行细菌微生物组分析:从 42 名达里尔患者的头皮、胸部、腋窝和手掌的病变和非病变皮肤上采集的 280 份微生物组样本被纳入分析。在所有皮肤部位,最多的细菌属是丙酸杆菌、棒状杆菌、副球菌、微球菌和耳球菌。头皮和胸部病变部位的微生物组结构各不相同,主要是由于葡萄球菌种类过多。与病情较轻的患者相比,病情较重的患者胸部、腋窝和手掌的微生物组发生了改变,头皮和手掌病变中的微生物组分别由Peptoniphilus属和Moryella属驱动:结论:葡萄球菌与达里尔病变密切相关,并导致达里尔相关菌群失调。疾病的严重程度与另外两种细菌属有关。这些关联是否也具有致病作用并可作为治疗目标仍有待确定,需要进一步研究。
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引用次数: 0
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Dermatology
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