{"title":"Hereditary angioedema: do patients have a specific \"digital fingerprint\" in Danish registries?","authors":"J. L. Drivenes","doi":"10.15570/actaapa.2024.3","DOIUrl":"https://doi.org/10.15570/actaapa.2024.3","url":null,"abstract":"INTRODUCTION\u0000Hereditary angioedema (HAE) is a potentially life-threatening genetic disorder characterized by recurrent episodes of angioedema. From the onset of symptoms until diagnosis, patients often have several contacts with the healthcare system. It was hypothesized that a \"digital fingerprint\" of undiagnosed HAE patients could be identified in Danish registries.\u0000\u0000\u0000METHODS\u0000This study compared patients with a control group of patients with a diagnosis of Quincke's edema (QE) or bee/wasp allergy because they could have phenotypic similarities.\u0000\u0000\u0000RESULTS\u0000QE was the most common diagnosis code in the hospital sector among HAE patients before a specific diagnosis of HAE was established. HAE patients had been seen at the hospital on average once every other year before the diagnosis was established, and on average once during the year before the diagnosis was established. Many patients contacted a practicing dermatologist during the year before the diagnosis was established.\u0000\u0000\u0000CONCLUSIONS\u0000HAE patients had several hospital contacts due to swelling attacks during the years before their diagnosis was established, and half of them consulted a dermatologist. It was not possible to identify a specific \"digital fingerprint\" in Danish registries regarding specific procedures or diagnoses distinguishing them from the control group. It is recommended that hospitalized patients with angioedema of unknown cause be screened for HAE.","PeriodicalId":502234,"journal":{"name":"Acta dermatovenerologica Alpina, Pannonica, et Adriatica","volume":"51 10","pages":"actaapa.2024.3"},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139779916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hereditary angioedema: do patients have a specific \"digital fingerprint\" in Danish registries?","authors":"J. L. Drivenes","doi":"10.15570/actaapa.2024.3","DOIUrl":"https://doi.org/10.15570/actaapa.2024.3","url":null,"abstract":"INTRODUCTION\u0000Hereditary angioedema (HAE) is a potentially life-threatening genetic disorder characterized by recurrent episodes of angioedema. From the onset of symptoms until diagnosis, patients often have several contacts with the healthcare system. It was hypothesized that a \"digital fingerprint\" of undiagnosed HAE patients could be identified in Danish registries.\u0000\u0000\u0000METHODS\u0000This study compared patients with a control group of patients with a diagnosis of Quincke's edema (QE) or bee/wasp allergy because they could have phenotypic similarities.\u0000\u0000\u0000RESULTS\u0000QE was the most common diagnosis code in the hospital sector among HAE patients before a specific diagnosis of HAE was established. HAE patients had been seen at the hospital on average once every other year before the diagnosis was established, and on average once during the year before the diagnosis was established. Many patients contacted a practicing dermatologist during the year before the diagnosis was established.\u0000\u0000\u0000CONCLUSIONS\u0000HAE patients had several hospital contacts due to swelling attacks during the years before their diagnosis was established, and half of them consulted a dermatologist. It was not possible to identify a specific \"digital fingerprint\" in Danish registries regarding specific procedures or diagnoses distinguishing them from the control group. It is recommended that hospitalized patients with angioedema of unknown cause be screened for HAE.","PeriodicalId":502234,"journal":{"name":"Acta dermatovenerologica Alpina, Pannonica, et Adriatica","volume":"342 ","pages":"actaapa.2024.3"},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139839957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Widespread dermatophytosis in a healthy adolescent: the first report of multidrug-resistant Trichophyton indotineae infection in the UAE.","authors":"Miloš D Pavlović, Shireen Marzouk, Leis Bećiri","doi":"10.15570/actaapa.2024.4","DOIUrl":"https://doi.org/10.15570/actaapa.2024.4","url":null,"abstract":"A multidrug-resistant dermatophyte species recently arose in India, first described as terbinafine-resistant Trichophyton interdigitale and soon given a separate name: T. indotineae. Thanks to its treatment recalcitrance, person-to-person spread, and frequent travel, before long it was identified in many countries on all continents. We describe here the case of a boy with widespread, extremely pruritic, inflammatory dermatophytosis affecting his face, neck, trunk, and extremities, unsuccessfully treated for months with oral terbinafine and fluconazole and a range of topical antimycotics. Qualitative polymerase chain reaction of skin scrapings from his lesions identified a T. interdigitale complex fungus, highly probably T. indotineae due to conspecificity and antifungal resistance. Oral itraconazole, administered over 8 weeks, cleared the infection. Because the patient had not traveled outside the United Arab Emirates for months before the infection became obvious, it must have been acquired from a local source.","PeriodicalId":502234,"journal":{"name":"Acta dermatovenerologica Alpina, Pannonica, et Adriatica","volume":"52 17","pages":"actaapa.2024.4"},"PeriodicalIF":0.0,"publicationDate":"2024-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139839550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Digging into uncertainty: a case report on Spitz lesions.","authors":"Eva Klara Merzel Šabović, Dragan Jejinić, Andreja Pagon, Nina Jugovar, Violeta Hosta","doi":"10.15570/actaapa.2024.2","DOIUrl":"https://doi.org/10.15570/actaapa.2024.2","url":null,"abstract":"Spitz lesions represent a spectrum of melanocytic proliferations, and they include Spitz nevi, atypical Spitz tumors, and Spitz melanomas. Atypical Spitz tumors are intermediate melanocytic lesions with features between benign Spitz nevi and malignant Spitz melanomas. They often present a diagnostic challenge to pathologists and dermatologists alike because they can mimic melanoma, especially high-grade atypical Spitz tumors. Importantly, they present a relevant clinical management challenge because definite recommendations for their management and treatment have not yet been established. Here we present the case of a young patient with a high-grade atypical Spitz tumor along with the diagnostic procedure and further management. We also review potential pitfalls in the literature that should alert clinicians to the more aggressive potential of the lesion, such as some BRAF fusions.","PeriodicalId":502234,"journal":{"name":"Acta dermatovenerologica Alpina, Pannonica, et Adriatica","volume":" 6","pages":"actaapa.2024.2"},"PeriodicalIF":0.0,"publicationDate":"2024-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139624652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Katarina Resman Rus, Samo Zakotnik, Martin Sagadin, M. Kolenc, Lucijan Skubic, N. Knap, M. Korva, Mario Poljak, Tatjana Avšič-Županc
{"title":"Review of virological methods for laboratory diagnosis and characterization of monkeypox virus (MPXV): lessons learned from the 2022 Mpox outbreak.","authors":"Katarina Resman Rus, Samo Zakotnik, Martin Sagadin, M. Kolenc, Lucijan Skubic, N. Knap, M. Korva, Mario Poljak, Tatjana Avšič-Županc","doi":"10.15570/actaapa.2024.1","DOIUrl":"https://doi.org/10.15570/actaapa.2024.1","url":null,"abstract":"Monkeypox virus (MPXV), originally endemic in West Africa (Clade II) and Central Africa (Clade I), has recently emerged worldwide and has reinforced the need for rapid and accurate MPXV diagnostics. This review presents and critically discusses the range of virological methods for laboratory diagnosis and characterization of MPXV as well as related lessons learned and practical experience gained from the 2022 Mpox global outbreak. Real-time PCR is currently considered the diagnostic gold standard and ensures accurate and timely confirmation of suspected Mpox cases based on suspicious skin lesions, and digital PCR improves the precision of MPXV DNA quantification. Whole genome sequencing reveals the diversity within the Clade IIb outbreak and highlights the role of microevolution in the adaptation of the virus to the human host. Continuous genomic surveillance is important for better understanding of human-to-human transmission and prevention of the emergence of variola virus-like strains. Traditional virological methods such as electron microscopy and virus isolation remain essential for comprehensive virus characterization, particularly in the context of vaccine and antiviral drug development. Despite the current challenges, serological tests detecting a range of anti-MPXV antibody are important adjunct diagnostic and research tools for confirmation of late-presenting or asymptomatic MPXV cases, contact tracing, epidemiological studies, seroepidemiological surveys, and better understanding of the role of IgG and neutralizing antibodies in the immune response to infection and vaccination. A multidisciplinary approach combining advanced molecular techniques with traditional virological methods is important for rapid and reliable diagnosis, surveillance, and control of the outbreak.","PeriodicalId":502234,"journal":{"name":"Acta dermatovenerologica Alpina, Pannonica, et Adriatica","volume":"15 6","pages":"actaapa.2024.1"},"PeriodicalIF":0.0,"publicationDate":"2024-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139383821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Efficacy of alitretinoin in the treatment of Darier disease: a case report.","authors":"Andreja Pagon, M. Dolenc Voljč","doi":"10.15570/actaapa.2023.34","DOIUrl":"https://doi.org/10.15570/actaapa.2023.34","url":null,"abstract":"Darier disease is a rare autosomal dominant genodermatosis that initially first presents in adolescence with scaly reddish brown keratotic papules and plaques with a seborrheic and intertriginous distribution. The absence of specific targeted medications complicates the treatment process, and managing resistant cases can prove challenging due to recurrent exacerbations that may result in serious complications such as secondary bacterial and viral infections. Treatments of choice include antiseptics, topical corticosteroids, and systemic retinoids, mainly acitretin and isotretinoin. We report the case of a female patient with Darier disease that was unsuccessfully treated with acitretin and isotretinoin but showed significant improvement with alitretinoin. Previous reports on the efficacy of alitretinoin in Darier disease are reviewed.","PeriodicalId":502234,"journal":{"name":"Acta dermatovenerologica Alpina, Pannonica, et Adriatica","volume":"4 4","pages":"191-195"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139187750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tijana Orlic, Snezana Minic, E. Manojlović-Gačić, D. Živanović, I. Kapetanovic
{"title":"A dermatological perspective: eosinophilic eruption of hematoproliferative disease as a clinical and histological dilemma.","authors":"Tijana Orlic, Snezana Minic, E. Manojlović-Gačić, D. Živanović, I. Kapetanovic","doi":"10.15570/actaapa.2023.32","DOIUrl":"https://doi.org/10.15570/actaapa.2023.32","url":null,"abstract":"The emergence of de novo or recurrent cutaneous eruptions in individuals with hematological diseases presents a challenge when determining whether they indicate secondary dissemination or an unrelated diagnosis. Eosinophilic eruption of hematoproliferative disease is a rare nonspecific manifestation accompanying lymphoproliferative disorders, including chronic lymphocytic leukemia (CLL). We present the case of a 70-year-old man with CLL in remission (previously treated with two 6-month cycles of fludarabine-cyclophosphamide plus rituximab, 2 and 5 years earlier) with an acute, disseminated polymorphic skin eruption. Skin biopsies from two sites (bulla and infiltrated nodule) were taken for histopathological examination. The pathologist reported giant spongiform vesicle formation with eosinophils with dermal and hypodermal inflammatory infiltrate composed of lymphocytes (predominantly T cells, fewer B cells) and eosinophils. Secondary neoplasm dissemination and sarcoidosis were excluded by means of immunohistochemistry. A diagnosis of eosinophilic eruption of hematoproliferative disease in the CLL patient post-chemotherapy and without active disease was established. Two weeks after skin remission, the patient worsened with enlarged lymph nodes and a leukocyte count of 291 × 109/l. CLL relapse was confirmed. Leukocytapheresis was performed and ibrutinib 140 mg three times daily was prescribed. Our case underscores the importance of recognizing this relatively common but underreported eosinophilic eruption associated with hematoproliferative diseases.","PeriodicalId":502234,"journal":{"name":"Acta dermatovenerologica Alpina, Pannonica, et Adriatica","volume":"8 3","pages":"183-186"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139194571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"New anti-aging strategies: a narrative review.","authors":"Vana Stojić, Tea Štrbac, Bor Stanimirović","doi":"10.15570/actaapa.2023.29","DOIUrl":"https://doi.org/10.15570/actaapa.2023.29","url":null,"abstract":"The objective of anti-aging medicine is to decelerate the aging process and mitigate its associated effects, such as susceptibility to cancer, diabetes, and cardiovascular and neurodegenerative diseases. This review provides an overview of the latest advancements in this field, considering both pharmaceutical and non-pharmaceutical approaches. Electronic literature search involved three databases: MEDLINE, Cochrane, and Google Scholar, supplemented by other available literature. Strategies for delaying aging and related diseases comprise pharmaceutical interventions and lifestyle choices. It is crucial for these strategies to be substantiated by research-based evidence. Lifestyle options include fasting, fasting-mimicking, and ketogenic diets. Anti-aging drugs and supplements operate through diverse mechanisms. Calorie restriction mimetics include the activator of AMP-activated protein kinase (metformin) and inhibitor of mTOR (rapamycin), alongside rilmenidine, exhibiting both effects. Rosmarinic acid, a natural product, functions through its anti-glycation properties. Age-related protein crosslinks are acknowledged as a causative factor in age-related diseases. Anti-aging medicine is an evolving field with a multitude of drugs and strategies, necessitating further clinical studies and long-term follow-up based on clinical experience and insights gained from delayed adverse events.","PeriodicalId":502234,"journal":{"name":"Acta dermatovenerologica Alpina, Pannonica, et Adriatica","volume":"208 ","pages":"159-164"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139195446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Immunohistochemical expression of vitamin D receptor and Wnt signaling pathway molecules in psoriasis.","authors":"Amina Ismaeel, Fatima Alhashimi, Zainab Almossali, Safa Alshaikh, Samvel Selvam, Duha Janahi","doi":"10.15570/actaapa.2023.25","DOIUrl":"https://doi.org/10.15570/actaapa.2023.25","url":null,"abstract":"INTRODUCTION Psoriasis is a prevalent, complex, immune-mediated illness. There is some evidence in the literature supporting the involvement of the Wnt signaling pathway in psoriasis. No previous studies have focused on the association between the Wnt signaling pathway and vitamin D receptor (VDR) expression in psoriasis. This study investigates the expression of VDR and mediators of the canonical (β-catenin) and non-canonical (Wnt5a) Wnt signaling pathway in psoriatic lesional skin biopsy specimens compared to controls. METHODS A cross-sectional study conducted on skin punch biopsy specimens from 42 psoriasis patients were stained with VDR, β-catenin, and Wnt5a and compared with 42 control biopsies. Patients' demographics, clinical data, and serum vitamin D levels were recorded. RESULTS VDR showed nuclear localization with significant downregulation in the psoriasis specimens compared to controls. β-catenin (membranous) and Wnt5a (cytoplasmic) showed significant upregulation in the psoriasis specimens. When the expressions of VDR, β-catenin, and Wnt5a were compared based on disease severity, no differences were found between mild, moderate, and severe subgroups of the disease. Late-onset psoriasis patients had lower VDR and Wnt5a histoscores compared to the early-onset group. A trend toward a positive correlation was observed between the histoscores of VDR and Wnt5a. CONCLUSION Our findings confirm the significance of VDR signaling in the pathophysiology of psoriasis and strengthen the relationship between this disease and the Wnt signaling pathway. There was evidence that there is an association between VDR status and Wnt5a expression.","PeriodicalId":502234,"journal":{"name":"Acta dermatovenerologica Alpina, Pannonica, et Adriatica","volume":"207 3","pages":"129-133"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139195969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}