Clinical and Experimental Dermatology最新文献

{"title":"Metastatic malignant cylindroma arising on a background of digenic inheritance of BRCA2 and CYLD pathogenic variants targeted with PARP inhibition.","authors":"William Fostier, Akhtar Husain, Shirin Namini, Bipin Mathew, Georgie Holt, Yasin Memari, Helen Davies, Gene Ching Chiek Koh, Serena Nik-Zainal, Neil Rajan","doi":"10.1093/ced/llaf064","DOIUrl":"https://doi.org/10.1093/ced/llaf064","url":null,"abstract":"<p><strong>Background: </strong>CYLD cutaneous syndrome (CCS) is caused by germline heterozygous pathogenic variants in CYLD and results in progressive formation of cylindromas, spiradenomas, or trichoepitheliomas. Malignant cylindroma is a rare skin adnexal tumour occurring in CCS that can metastasize with lethal outcomes and has limited genomic characterization. BRCA2 loss in CCS is not described and may modulate the cutaneous cancer risk of CCS.</p><p><strong>Objectives: </strong>To establish if BRCA deficiency drives metastatic malignant cylindroma and report the phenotype of three siblings with digenic inheritance of CYLD and BRCA2 pathogenic variants, one of whom developed metastatic cylindroma aged 28.</p><p><strong>Methods: </strong>A kindred study reporting seven members of a CCS family was conducted in a tertiary hospital setting within the United Kingdom from April 2021 - February 2023. Clinical phenotype, pathological, radiological and genetic findings, and treatment data were collected. Whole genome sequencing of the primary malignant cylindroma occurring in one patient was performed to identify targetable driver mutations and signatures.</p><p><strong>Results: </strong>Malignant cylindroma arose in one (proband) of the two male siblings with digenic inheritance of BRCA2 (c.5158insT) and CYLD (c.2689-2A>G) pathogenic variants. A further female sibling with digenic inheritance of the same BRCA2 and CYLD PVs developed early breast cancer. Whole genome sequencing of the primary malignant cylindroma in the affected patient showed loss of heterozygosity of both BRCA2 and CYLD. Bioinformatic analysis revealed confirmed homologous repair deficiency (HRD). These data supported the use of the poly ADP ribose (PARP) inhibitor, Rucaparib, to target HRD in a non-canonical BRCA deficient skin cancer.</p><p><strong>Conclusions: </strong>Digenic inheritance of pathogenic variants in cancer predisposing genes should prompt clinicians to be vigilant for atypical malignant presentations. We demonstrate that rapid whole genome sequencing can inform the treatment of metastatic malignant cylindroma and identify novel systemic therapies.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143254060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful treatment of generalized inflammatory linear verrucous epidermal nevus with a somatic mutation in KRT10 with crisaborole 2% ointment.","authors":"Zhongtao Li, Qingfeng Liu, Fang Zhang, Sheng Wang","doi":"10.1093/ced/llaf059","DOIUrl":"https://doi.org/10.1093/ced/llaf059","url":null,"abstract":"<p><p>Inflammatory linear verrucous epidermal nevus (ILVEN) is a rare skin disorder characterized by pruritic, erythematous, hyperkeratotic papules and plaques following the lines of Blaschko. Pathogenesis of ILVEN is not yet clear and treatment remains challenging. We analyzed the molecular basis of generalized ILVEN in a Chinese girl and evaluated the therapeutic effect of topical crisaborole 2% ointment. The patient was found to carry a somatic heterozygous c.467G > A (p.Arg156His) mutation in the KRT10 gene. Expressions of IFN-γ, IL-12, IL-23 and IL-17A at mRNA level in her lesions were elevated. An excellent response was achieved after application of crisaborole 2% ointment. Our data reveal the crucial role of activation of immune response in the development of ILVEN with somatic KRT10 mutations, and suggest crisaborole 2% ointment should be considered for the treatment of ILVEN.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188573","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel technique for non- invasive diagnosis of different skin conditions herpes virus-related.","authors":"Anna Elisa Verzì, Francesco Lacarrubba, Stefano Dimarco, Giuseppe Micali","doi":"10.1093/ced/llaf061","DOIUrl":"https://doi.org/10.1093/ced/llaf061","url":null,"abstract":"<p><strong>Background: </strong>Line-field confocal optical coherence tomography (LC-OCT) is a new noninvasive imaging technique that provides high-resolution skin imaging close to histopathology.</p><p><strong>Objectives: </strong>The aim of this study was to evaluate the usefulness of LC-OCT in the diagnosis of herpes virus skin infections.</p><p><strong>Methods: </strong>Patients with a clinical or anamnestic suspicion of herpes virus infection underwent LC-OCT evaluation followed by Tzanck test. The examinations were performed in a blinded manner by different dermatologists.</p><p><strong>Results: </strong>A total of 72 patients (M: 38; F: 34; age range: 13-84) were evaluated. In 57 cases, LC-OCT allowed the recognition of the typical herpetic intraepidermal vesicles containing giant, ballooning/multinucleated cells, as confirmed by Tzanck test. The final diagnosis was herpes simplex in 16 cases, herpes zoster in 31 cases, chickenpox in 8 cases, and Kaposi varicelliform eruption in 2 cases. In the remaining 15 cases, both LC-OCT and Tzanck test excluded the diagnosis of herpetic infections.</p><p><strong>Conclusions: </strong>Although the diagnosis of herpes virus skin infections is generally clinical, in minimal and/or atypical cases, LC-OCT could be a rapid and valid alternative to semi-invasive/invasive and time-consuming procedures, such as Tzanck test, viral cultures, PCR, or histopathology.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Artificial Intelligence Scribes May Revolutionize Dermatology One Note at a Time.","authors":"Emily R Gordon, Megan H Trager, Alyssa Breneman, Faramarz H Samie","doi":"10.1093/ced/llaf066","DOIUrl":"https://doi.org/10.1093/ced/llaf066","url":null,"abstract":"","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the efficacy and safety of intralesional vitamin D3 injection in the treatment of acanthosis nigricans: A split-neck comparative study.","authors":"Mona S Ali, Hala M El-Sadek, Mahmoud A Rageh","doi":"10.1093/ced/llaf067","DOIUrl":"https://doi.org/10.1093/ced/llaf067","url":null,"abstract":"<p><strong>Background: </strong>Acanthosis nigricans (AN) is a prevalent dermatological issue with numerous treatment options that are not entirely sufficient. Topical vitamin D analogs were found to be effective and safe in treating AN; however, other preparations of vitamin D have not been studied yet.</p><p><strong>Objectives: </strong>To evaluate the safety and efficacy of intralesional vitamin D3 injection in treating pseudo-acanthosis nigricans.</p><p><strong>Methods: </strong>We enrolled thirty subjects who had bilateral pseudo-acanthosis nigricans of the neck. Every patient received intralesional vitamin D3 therapy on the right side of the neck and intralesional saline as a control on the left side over the course of four sessions, each spaced one week apart. Cases were assessed clinically one month after the last treatment session by Acanthosis Nigricans Area and Severity Index (ANASI) score in addition to dermoscopic examination.</p><p><strong>Results: </strong>A statistically significant decrease in ANASI score was seen between the treated and control sides both before and after treatment, with the intralesional vitamin D treated side exhibiting a larger percentage of reduction than the control side. Intralesional vitamin D3 treatment significantly improved dermoscopic features such as cristae cutis, sulci cutis, and pigmented dots compared to the placebo treatment.</p><p><strong>Conclusions: </strong>Intralesional vitamin D3 is a safe and effective modality for treating pseudo-acanthosis nigricans.</p>","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143255061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Common variable immunodeficiency 10, due to a novel variant in the NFKB2 gene, presenting as alopecia universalis and vitiligo.","authors":"Lijuan Wang, Bin Zhang","doi":"10.1093/ced/llaf060","DOIUrl":"https://doi.org/10.1093/ced/llaf060","url":null,"abstract":"","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An undifferentiated malignant tumour posing a diagnostic challenge.","authors":"Niovi Papalexopoulou, Lucy Melly, Elaine MacDuff, Clare May","doi":"10.1093/ced/llaf051","DOIUrl":"https://doi.org/10.1093/ced/llaf051","url":null,"abstract":"","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Malignant melanoma arising in a sebaceous naevus leading to the discovery of a pathogenic germline MUTYH mutation: a case report.","authors":"Aymeric Hennemann, Zohair Selmani, Alexis Perales, Charlée Nardin, François Aubin","doi":"10.1093/ced/llaf052","DOIUrl":"https://doi.org/10.1093/ced/llaf052","url":null,"abstract":"","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"General dermatology & dermatology in primary health care.","authors":"Geoffrey Hanley, Karen Eustace","doi":"10.1093/ced/llaf058","DOIUrl":"https://doi.org/10.1093/ced/llaf058","url":null,"abstract":"","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lichen planopilaris presenting with symmetrical patchy alopecia of the beard.","authors":"Shin Shen Yong, Vijaya Chitreddy, Alexander Nirenberg, Bevin Bhoyrul","doi":"10.1093/ced/llaf057","DOIUrl":"https://doi.org/10.1093/ced/llaf057","url":null,"abstract":"","PeriodicalId":10324,"journal":{"name":"Clinical and Experimental Dermatology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}