Israel Medical Association Journal最新文献

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Coexistence of Mycosis Fungoides and Photosensitive or Autoimmune Diseases. The Therapeutic Challenge: A retrospective Case Series from a Tertiary Referral Center. 蕈样真菌病与光敏性或自身免疫性疾病的共存。治疗的挑战：回顾性病例系列从三级转诊中心。

IF 1.8 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Israel Medical Association Journal

Pub Date : 2025-06-01

Meital Oren-Shabtai, Assi Levi, Daniel Mimouni, Hadas Prag-Naveh, Elena Didkovsky, Elisheva Pokroy-Shapira, Emmilia Hodak, Iris Amitay-Laish

Background: Mycosis fungoides (MF) combined with photosensitive/autoimmune diseases has been reported, yet there are limited data regarding the therapeutic considerations in these patients, specifically phototherapy, a mainstay skin-directed treatment (SDT), being a relative or complete contra-indication.

Objectives: To outline therapeutic considerations for patients with MF who had also been diagnosed with photosensitive/autoimmune diseases.

Methods: We conducted a retrospective analysis of patients with MF who were treated at our center between January 2008 and December 2024with photosensitive/autoimmune diseases, especially collagen vascular diseases (CVD) or autoimmune bullous diseases (AIBD).

Results: Eight patients were diagnosed with MF at a median age of 39 years. Seven had early-stage (4-IA, 3-IB) and one had Sézary syndrome. Six early-stage MF patients were diagnosed with lupus erythematosus (LE, 4) or AIBD (2) and were treated with SDT (topical corticosteroids/chlormethine gel), systemic retinoid or methotrexate. A patient with resistant early-stage MF and discoid LE was treated with electron beam and interferon. One patient who presented with variegate porphyria and localized MF was treated with electron beam. The patient with Sézary syndrome had inclusion body myositis. He was treated with low-dose total skin electron beam, methotrexate, extracorporeal photopheresis, and subsequently with romidepsin. After a median of 8 years, no stage progression of MF was observed. The Sézary syndrome patient achieved down-staging and was at stage IB. There was no aggravation of the co-morbidity in any of the patients.

Conclusions: Effective management of MF and associated photosensitive or autoimmune co-morbidities underscore the need for individualized treatment strategies in patients with these unique dual diagnoses.

背景：真菌样真菌病（MF）合并光敏/自身免疫性疾病已被报道，但关于这些患者的治疗考虑的数据有限，特别是光疗，主要的皮肤定向治疗（SDT），是一个相对或完全的禁忌症。目的：概述诊断为光敏性/自身免疫性疾病的MF患者的治疗注意事项。方法：回顾性分析2008年1月至2024年12月在本中心治疗的光敏性/自身免疫性疾病，特别是胶原血管疾病（CVD）或自身免疫性大疱性疾病（AIBD）的MF患者。结果：8例患者被诊断为MF，中位年龄39岁。7例为早期（4-IA, 3-IB）， 1例为ssamzary综合征。6例早期MF患者被诊断为红斑狼疮（LE, 4）或AIBD(2)，并接受SDT（外用皮质类固醇/氯甲基凝胶）、系统性类视黄醇或甲氨蝶呤治疗。对1例早期耐药MF合并盘状LE患者采用电子束联合干扰素治疗。1例表现为多样卟啉症和局限性MF的患者采用电子束治疗。ssamzary综合征患者有包涵体肌炎。患者接受低剂量全皮肤电子束、甲氨蝶呤、体外光化学治疗，随后接受罗米地辛治疗。中位8年后，没有观察到MF的分期进展。ssamzary综合征患者达到了低分期，处于IB期。所有患者的合并症均未加重。结论：对MF和相关光敏或自身免疫性合并症的有效管理强调了对具有这些独特双重诊断的患者进行个体化治疗策略的必要性。

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引用次数: 0

Guidelines for the Treatment of Infantile Hemangiomas: A Position Paper from the Israeli Association of Dermatology and Venereology. 婴儿血管瘤治疗指南：来自以色列皮肤病和性病学会的立场文件。

IF 1.8 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Israel Medical Association Journal

Pub Date : 2025-06-01

Ayelet Ollech, Yizhak Confino, Rivka Friedland, Dan Ben Amitai, Vered Molho-Pessach, Michal Neumark, Jacob Mashiah, Liat Samuelov, Ayelet Shani-Adir, Hiba Zaaroura, Eran Cohen-Barak, Amir Horev, Yulia Valdman, Baruch Kaplan, Shoshana Greenberger

引用次数: 0

Lancet's Editors Have Chosen to Publish False Precision Over Complicated Truth: It Is a Path Away from Both Peace and Good Science. 《柳叶刀》的编辑们选择发表虚假的准确性而不是复杂的事实：这是一条远离和平和良好科学的道路。

IF 1.8 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Israel Medical Association Journal

Pub Date : 2025-06-01

Robert Brian Schonberger

引用次数: 0

Novel NECTIN4 Mutations in Ectodermal Dysplasia Syndactyly Syndrome in Two Families. 两个家族外胚层发育不良并指综合征中新的NECTIN4突变。

IF 1.8 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Israel Medical Association Journal

Pub Date : 2025-06-01

Dania Abu Assab, Abraham Zlotogorski, Vered Molho-Pessach

Background: Ectodermal dysplasia-syndactyly syndrome (EDSS) is a rare form of ectodermal dysplasia caused by biallelic mutations in NECTIN4 (PVRL4) gene.

Objectives: To identify new and rare mutations of the NECTIN4 gene in two unrelated families with EDSS.

Methods: Six patients from two unrelated families were diagnosed with EDSS. Next generation sequencing and Sanger sequencing were performed on DNA extracted from peripheral blood from affected and unaffected individuals from the families. We performed a literature search to identify previously reported cases of EDSS.

Results: A homozygous c.680A>G p.His227Arg mutation in NECTIN4 was found in five affected members of both families. One patient was found to be compound heterozygous for the latter mutation and for another novel missense mutation in NECTIN4 (c.79+1G>A). Both mutations affect the extracellular domain of nectin-4. A literature search identified only 13 reported families affected by this rare disorder.

Conclusions: We described two families with six affected members presenting with EDSS caused by two novel NECTIN4 mutations. We also reviewed the current available data on EDSS in the medical literature.

背景：外胚层发育不良-并指综合征（EDSS）是由NECTIN4 （PVRL4）基因双等位基因突变引起的一种罕见的外胚层发育不良。目的：在两个无亲缘关系的EDSS家族中鉴定新的和罕见的NECTIN4基因突变。方法：对来自2个无血缘关系家庭的6例EDSS患者进行分析。下一代测序和Sanger测序对从家族中受影响和未受影响个体的外周血中提取的DNA进行测序。我们进行了文献检索，以确定先前报道的EDSS病例。结果：在两个家族的5名患病成员中发现了c.680A>G . his227arg纯合突变。一名患者发现后一种突变和另一种新的NECTIN4错义突变（c.79+1G>A）是复合杂合的。这两种突变都会影响连接素-4的细胞外结构域。一项文献检索只发现了13个报告的受这种罕见疾病影响的家庭。结论：我们描述了两个家族，有6名受影响的成员表现出由两个新的NECTIN4突变引起的EDSS。我们还回顾了目前医学文献中关于EDSS的可用数据。

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引用次数: 0

The Wonders of Humanized Mouse Models for Skin Disease and Research. 皮肤病人源化小鼠模型的奇迹与研究。

IF 1.8 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Israel Medical Association Journal

Pub Date : 2025-06-01

Amos Gilhar

引用次数: 0

Advances, Innovations, and Perspectives in Dermatology. 皮肤病学的进展、创新和展望。

IF 1.8 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Israel Medical Association Journal

Pub Date : 2025-06-01

Baruch Kaplan

引用次数: 0

Spontaneous Resolution of Exercise-induced Hematomas Mimicking Pigmented Lesions on the Soles and Palms: A Case Series. 运动引起的模仿鞋底和手掌色素病变的血肿的自发消退：一个案例系列。

IF 1.8 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Israel Medical Association Journal

Pub Date : 2025-06-01

Benign Acral Lesions Dermoscopy Exercise-Induced Hematoma Pigmented Lesions Talon Noir C Metzger, Shmuel Epshteyn, Mor Miodovnik

引用次数: 0

Unraveling the Microbiome-Psoriasis Connection: Insights into Pathogenesis and Therapeutic Potential. 揭示微生物组与银屑病的联系：对发病机制和治疗潜力的见解。

IF 1.8 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Israel Medical Association Journal

Pub Date : 2025-06-01

Mor Gross, Yuval Ramot

引用次数: 0

Practical Approach to Diagnosis and Treatment of Psoriatic Nails and Psoriatic Nails with Onychomycosis. 银屑病指甲及银屑病指甲合并甲真菌病诊治的实用方法。

IF 1.8 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Israel Medical Association Journal

Pub Date : 2025-06-01

Avner Shemer, Anna Lyakhovitsky, Eran Galili, Riad Kassem, Baruch Kaplan

引用次数: 0

Anifrolumab Induced Bullous Pemphigoid. Anifrolumab诱导的大疱性类天疱疮。

IF 1.8 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Israel Medical Association Journal

Pub Date : 2025-06-01

Mira Hamed, Amir Bieber, Michael Ziv, Guy Feraru, Roni P Dodiuk-Gad, Eran Cohen-Barak, Daniella Kushnir-Grinbaum

引用次数: 0

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