Dermatology最新文献

{"title":"Molecular Profile of Subungual Melanoma: A MelaNostrum Consortium Study of 68 Cases Reporting BRAF, NRAS, KIT, and TERT Promoter Status.","authors":"David Millan-Esteban, Zaida García-Casado, Anna Macià, Inés de la Rosa, Clara Torrecilla-Vall-Llossera, Rosa Maria Penin, Esperanza Manrique-Silva, Stefania Pellegrini, Maria Raffaella Biasin, Piera Rizzolo, Alicia Gavillero, Alessandro Di Stefani, Cristina Pellegrini, Celia Requena, Maria Concetta Fargnoli, Ketty Peris, Carlo Cota, Chiara Menin, Maria Teresa Landi, Eduardo Nagore","doi":"10.1159/000534955","DOIUrl":"10.1159/000534955","url":null,"abstract":"<p><strong>Background: </strong>Subungual melanoma (SM) is an unusual type of melanocytic tumor affecting the nail apparatus. The mutational prevalence of the most prominently mutated genes in melanoma has been reported in small cohorts of SM, with unclear conclusions on whether SM is different from the rest of melanomas arising in acral locations or not. Hence, the molecular profile of a large series of SM is yet to be described.</p><p><strong>Objectives: </strong>The aim of this study was to describe the molecular characteristics of a large series of SM and their association with demographic and histopathological features.</p><p><strong>Methods: </strong>Patients diagnosed with SM between 2001 and 2021 were identified from six Spanish and Italian healthcare centers. The mutational status for BRAF, NRAS, KIT, and the promoter region of TERT (TERTp) were determined either by Sanger sequencing or next-generation sequencing. Clinical data were retrieved from the hospital databases to elucidate potential associations.</p><p><strong>Results: </strong>A total of 68 SM cases were included. Mutations were most common in BRAF (10.3%) and KIT (10%), followed by NRAS (7.6%), and TERTp (3.8%). Their prevalence was similar to that of non-subungual acral melanoma but higher in SM located on the hand than on the foot.</p><p><strong>Conclusions: </strong>To date, this study represents the largest cohort of SM patients with data on the known driver gene mutations. The low mutation rate supports a different etiopathogenic mechanism for SM in comparison of non-acral cutaneous melanoma, particularly for SM of the foot.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"164-169"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71421559","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}

{"title":"Genetic Polymorphisms of rs9949644 in MAPK4 Are Associated with Clinical Response to Methotrexate in Patients with Psoriasis.","authors":"Zhijia Fan, Qiong Huang, Zhenghua Zhang, Ling Han, Xu Fang, Ke Yang, Guiqin Huang, Zhizhong Zheng, Nikhil Yawalkar, Yong Lin, Zhicheng Wang, Kexiang Yan","doi":"10.1159/000533260","DOIUrl":"10.1159/000533260","url":null,"abstract":"<p><strong>Background: </strong>The study aimed to investigate the relationship of MAPK4 genetic variants with the efficacy of methotrexate (MTX) in psoriasis patients.</p><p><strong>Methods: </strong>Patients treated with MTX were classified as responders or nonresponders if the Psoriasis Area and Severity Index (PASI) at week 12 was reduced to greater than 75% or lower than 75%, respectively. The genotypes of 14 MAPK4 single-nucleotide polymorphisms in 310 patients were analyzed. The expression levels of MAPK4 protein were detected by Western blot.</p><p><strong>Results: </strong>Only rs9949644 polymorphisms were associated with the efficacy after adjusting for the confounding factors. Patients with the rs9949644 AG or GG genotype had a better clinical response compared to patients with the AA genotype. Rs9949644 polymorphisms were significantly associated with the PASI improvement rate. Besides, the protein level of MAPK4, positively associated with the psoriasis severity, was higher in patients. There were no significant differences of MAPK4 protein levels among the three groups. While after treatment, MAPK4 levels in the AG or GG group showed a significantly down-regulated trend.</p><p><strong>Conclusion: </strong>By demonstrating the significant association of MAPK4 with the efficacy of MTX, this study indicates that MAPK4 may be involved in the psoriasis progression and act as a predictor of therapeutic response.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"111-118"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10252591","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}

{"title":"Atypical and Typical Presentation of Erythema Nodosum: Clinical Differences in Treatment and Outcome.","authors":"Nina Meienberger, Julia-Tatjana Maul, Fabienne Fröhlich, Lara Valeska Maul, Thomas Kündig, Thierry Nordmann, Florian Anzengruber","doi":"10.1159/000535617","DOIUrl":"10.1159/000535617","url":null,"abstract":"<p><strong>Introduction: </strong>Erythema nodosum (EN) is the most common form of panniculitis that predominantly affects the shins. While EN in atypical sites has been described by many authors, there are currently only case studies published on this topic. This study aimed to evaluate clinical differences between patients suffering from EN on the shins, compared to patients with EN in atypical locations.</p><p><strong>Methods: </strong>We analyzed 105 patients in a retrospective, single-center study at a university hospital in Switzerland. Typical EN was defined as lesions, found only on the lower legs, while atypical EN as lesions on the upper legs, trunk, arms, or face, only or in addition to lesions on the lower legs. The patients were assessed for age, gender, dermatologic history, time until first medical consultation, time to diagnosis, and time until remission. Further, etiology, symptoms, and applied therapies were investigated. Findings were then compared between the typical and atypical EN cohorts.</p><p><strong>Results: </strong>Overall, we included 70 patients (37.99 ± 15.67 [3-81] years) with EN solely on the shins and 35 patients (41.27 ± 16.85 [9-76] years) with EN on other locations. Interestingly, time until diagnosis was significantly shorter in atypical EN (p = 0.034, 1.14 ± 4.68 vs. 0.46 ± 1.14 months). Time to remission was similar in both groups (3.61 ± 2.73 vs. 3.05 ± 2.86 months, respectively). Sarcoidosis was the only etiologic factor significantly more frequent in atypical EN compared to typical EN (23% vs. 9%, p = 0.042). Besides that, solely subtle differences were seen regarding etiology, gender, age at onset, course of the disease, and symptoms.</p><p><strong>Conclusions: </strong>Our study suggests that only minor alterations between both study populations exist. Significant differences were found in time to diagnosis (shorter for atypical EN), as well as in sarcoidosis as an etiologic factor (more frequent in atypical EN). While adalimumab was only prescribed in atypical EN cases, prognosis seems to be similar for typical and atypical EN (similar time to remission, similar amount of reoccurring cases). Due to the limited sample size, however, our study population may have been too small to detect the relevant differences, and bigger studies may be needed.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"226-232"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997255/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139377338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atopic Dermatitis Severity and Risk for Psoriasis: A Nationwide Population-Based Study.","authors":"Hyun Ji Lee, Yong Jun Hong, Kyung Do Han, Ji Hyun Lee","doi":"10.1159/000536143","DOIUrl":"10.1159/000536143","url":null,"abstract":"<p><strong>Introduction: </strong>As research on the role of the Th17/IL-23 pathway gains importance, the relationship between atopic dermatitis (AD) and psoriasis is becoming elucidated.</p><p><strong>Objective: </strong>The objective of this study wasto evaluate whether AD and its severity affect the risk for psoriasis.</p><p><strong>Methods: </strong>This retrospective population-based study used the database from the 2009 National Health Insurance Services-Health Screening Cohort in Korea. A total of 3,957,922 adult subjects were included and observed until 2018. The primary outcome was newly diagnosed psoriasis.</p><p><strong>Results: </strong>After adjusting for possible confounding factors, the moderate-to-severe AD group had the highest hazard ratio (HR) for psoriasis (HR = 2.50; 95% confidence interval (CI), 2.40-2.61), followed by the mild AD group (HR = 2.31; 95% CI: 2.19-2.44) compared with the non-AD group during a median 8.11 ± 1.19 years of follow-up.</p><p><strong>Limitations: </strong>It is difficult to define AD, which is not standardized, using a claims database and exclude patients who were misdiagnosed with AD.</p><p><strong>Conclusion: </strong>Patients with severe AD showed an increased risk for psoriasis compared to controls, and the risk for psoriasis was increased according to AD severity. This suggests that psoriasis and AD could share inflammatory, immune, and genetic features.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"262-270"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139477944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Global Hidradenitis Suppurativa Atlas Methodology: Combining Global Proportions in a Pooled Analysis.","authors":"Dorra Bouazzi, Rune K Andersen, Gabrielle R Vinding, Cecilia E Medianfar, Sabrina M Nielsen, Ditte M L Saunte, Nisha S Chandran, Hessel H van der Zee, Christos C Zouboulis, Farida Benhadou, Bente Villumsen, Afsaneh Alavi, Perpetua U Ibekwe, Iltefat H Hamzavi, John R Ingram, Haley B Naik, Amit Garg, Jurr Boer, Robin Christensen, Gregor B E Jemec","doi":"10.1159/000536389","DOIUrl":"10.1159/000536389","url":null,"abstract":"<p><strong>Introduction: </strong>Data concerning the global burden of hidradenitis suppurativa (HS) are limited. Reported prevalence estimates vary between 0.0003% and 4.1%, and data from various geographical regions are still to be collected. Previously reported prevalences have been limited by the methodological approach and source of data. This has resulted in great heterogeneity as prevalence data from physician-diagnosed cases poorly match those of self-reported apparent HS disease.</p><p><strong>Methods: </strong>The Global Hidradenitis Suppurativa Atlas (GHiSA) introduces an innovative approach to determine the global prevalence of HS. This approach involves using a previously validated questionnaire to screen apparently healthy adults accompanying a patient to a non-dermatological outpatient clinic visit in a hospital or a private/family medicine clinic. The screening questionnaire (i.e., the index test) is combined with a subsequent physician-based in-person validation (i.e., the reference standard) of the participants who screen positive. Approximately ten percent of the screen-negative participants are also clinically assessed to verify the diagnostic precision of the test. The local prevalence (pi) will be estimated from each country that submits the number of patients who are HS positive according to the index test and clinical examination (n), and the corresponding total number of observations (N).</p><p><strong>Conclusion: </strong>The GHiSA Global Prevalence studies are currently running simultaneously in 58 countries across six continents (Africa, Europe, Australia, North America, South America, and Asia). The goal of the combined global proportion is the generation of a single summary (i.e., proportional meta-analysis), which will be done after a logit transformation and synthesized using a random-effects model. The novel standardization of the Global Prevalence Studies conducted through GHiSA enables direct international comparisons, which were previously not possible due to substantial heterogeneity in past HS prevalence studies.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"369-375"},"PeriodicalIF":3.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139734713","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}

{"title":"Challenges in Psoriasis Research: A Systematic Review of Preclinical Models.","authors":"Ana Ubago-Rodríguez, María I Quiñones-Vico, Manuel Sánchez-Díaz, Raquel Sanabria-de la Torre, Álvaro Sierra-Sánchez, Trinidad Montero-Vílchez, Ana Fernández-González, Salvador Arias-Santiago","doi":"10.1159/000538993","DOIUrl":"10.1159/000538993","url":null,"abstract":"<p><strong>Introduction: </strong>Psoriasis is a chronic inflammatory skin disease with variable clinical presentation, multifactorial etiology and an immunogenetic basis. Several studies demonstrate that it results from a dysregulated interaction between skin keratinocytes, immune cells, and the environment that leads to a persistent inflammatory process modulated by cytokines and T cells. The development of new treatment options requires increased understanding of pathogenesis. However, the successful implementation of effective drugs requires well-characterized and highly available preclinical models that allow researchers to quickly and reproducibly determine their safety and efficacy.</p><p><strong>Methods: </strong>A systematic search on PubMed and Scopus databases was performed and assessed to find appropriate articles about psoriasis models applying the key words previously defined. The PRISMA guidelines were employed.</p><p><strong>Results: </strong>A total of 45 original articles were selected that met the selection criteria. Among these, there are articles on in vivo, in vitro, and ex vivo models, with the in vitro model being the majority due to its ease of use. Within animal models, the most widely used in recent years are chemically induced models using a compound known as imiquimod. However, the rest of the animal models used throughout the disease's research were also discussed. On the other hand, in vitro models were divided into two and three dimensions. The latter were the most used due to their similarity to human skin. Lastly, the ex vivo models were discussed, although they were the least used due to their difficulty in obtaining them.</p><p><strong>Conclusions: </strong>Therefore, this review summarizes the current preclinical models (in vivo, in vitro, and ex vivo), discussing how to develop them, their advantages, limitations, and applications. There are many challenges to improve the development of the different models. However, research in these in vitro model studies could reduce the use of animals. This is favored with the use of future technologies such as 3D bioprinting or organ-on-a-chip technologies.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"620-652"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141300318","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}

{"title":"Etanercept versus Methotrexate in the Treatment of Psoriasis and Associated Metabolic Syndrome: 12-Month Open-Label Comparative Study.","authors":"Samer A Dhaher, Jinan Q Mohammed","doi":"10.1159/000540589","DOIUrl":"10.1159/000540589","url":null,"abstract":"<p><strong>Introduction: </strong>Psoriasis is a chronic inflammatory systemic disease accompanied by systemic damage that leads to the development of multiple comorbidities including metabolic syndrome. Conventional systemic therapies for psoriasis are associated with toxicity and have a greater burden on the patients. The study aimed to assess the effectiveness of etanercept (ETN) monotherapy in comparison with methotrexate (MTX) monotherapy.</p><p><strong>Methods: </strong>In this prospective interventional comparative open-label study, 117 patients with psoriasis were randomized to 2 groups; 1 group of 42 patients; 32 (67.2%) males and 10 (23.8%) females treated with MTX, and the second group of 75 patients; 54 (72%) males and 21 (28%) females treated with ETN. Full laboratory investigations, body mass index (BMI), measurement of skin disease severity which was performed using Psoriasis Area Severity Index (PASI), and the reduction of 75% of the skin lesions (PASI 75) were calculated for all participants.</p><p><strong>Results: </strong>In the MTX group, there were no significant differences in BMI, or blood pressure after 12 weeks of the study. There is a reduction in the values of FBS, TSC, LDL, TRIG, ESR, CRP, and PASI, but this reduction was statistically not significant. Ten (23.8%) patients achieved PASI 75. In the ETN group, except for BMI, systolic and diastolic blood pressure, all other metabolic syndrome components, inflammatory markers, and PASI were decreased; the reduction was statistically significant. Sixty (80%) patients achieved PASI 75.</p><p><strong>Conclusion: </strong>Etanercept monotherapy showed greater efficacy than MTX monotherapy in the treatment of moderate to severe plaque-type psoriasis as it achieved greater reductions in PASI score and greater achievement of PASI 75 after 12 weeks. Etanercept monotherapy showed greater efficacy than MTX monotherapy in the improvement of all components of the associated metabolic syndrome except for BMI, which was increased in etanercept-treated patients.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"687-693"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792102","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}

{"title":"Correlation between PainDETECT Questionnaire and Quantitative Sensory Testing for the Detection of Neuropathic Pain in Hidradenitis Suppurativa.","authors":"Patrick J Speck, Ali Alsouhibani, Danielle E Mustin, Emily F Cole, Daniel E Harper, Lauren A V Orenstein","doi":"10.1159/000533262","DOIUrl":"10.1159/000533262","url":null,"abstract":"<p><strong>Background: </strong>Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease that is often severely painful due to nociceptive mechanisms (i.e., stimulation of cutaneous nociceptors). However, patient-reported pain character suggests that neuropathy may also drive HS pain in a subset of patients. Quantitative sensory testing (QST) can help identify neuropathic pain by testing for heightened and paradoxical pain responses in patients, but it is less feasible for routine clinical use compared with brief questionnaires. We therefore tested the suitability of a standardized neuropathic questionnaire (PainDETECT; PD-Q) for use as a surrogate clinical measure by directly comparing it with QST-identified neuropathic pain in HS.</p><p><strong>Methods: </strong>This observational, cross-sectional study included 22 adults with painful HS lesions who completed the PD-Q and underwent QST. A receiver operating characteristic curve was generated and Cohen's Kappa, sensitivity, and specificity were examined at three scoring thresholds.</p><p><strong>Results: </strong>Of the 22 participants, 14 (64%) exhibited dynamic mechanical allodynia and/or paradoxical thermal sensations in QST, which are characteristically found in neuropathic pain. According to the PD-Q, 8 participants (36%) were unlikely, 8 (36%) were possible, and 6 (27%) were likely to have neuropathic pain. A PD-Q Score indicating possible or likely neuropathic pain (i.e., ≥13) demonstrated 82% agreement with QST-determined neuropathic pain (Cohen's Kappa = 0.61 [p = 0.004]; sensitivity = 86%; specificity = 75%).</p><p><strong>Conclusion: </strong>The PD-Q demonstrates moderate agreement with QST in screening for neuropathic pain in HS and may be a helpful clinical tool.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"152-155"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9930583","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}

{"title":"Cutaneous Reactions in Pediatric Patients Treated with MEK Inhibitors: A Retrospective Single-Center Study.","authors":"Rivka Friedland, Mirit Glick, Iris Amitay-Laish, Helen Toledano","doi":"10.1159/000539374","DOIUrl":"10.1159/000539374","url":null,"abstract":"<p><strong>Introduction: </strong>Mitogen-activated extracellular signal-regulated kinase (MEK) inhibitors are in use for several indications for adults and children. Cutaneous toxicities are among the most common adverse effects. We aimed to describe the spectrum of cutaneous adverse events, its frequency, and severity in a cohort of pediatric patients.</p><p><strong>Methods: </strong>We reviewed all records of patients in our tertiary treatment center treated with MEK inhibitors between January 2016 and January 2023 for all indications.</p><p><strong>Results: </strong>Among 33 patients, 76% reported cutaneous adverse effects. The highest prevalence was in the group of patients treated with trametinib (90%), followed by the group treated with selumetinib (50%) and the group treated with a combination of trametinib and B-Raf proto-oncogene serine/threonine-protein kinase inhibitor (dabrafenib, 34%). Xerosis, dermatitis, paronychia, and hair heterochromia were most frequently reported. Severity was graded 1 or 2 for most adverse events, and 237 visits to the dermatology clinic related to these adverse events were recorded.</p><p><strong>Conclusions: </strong>Cutaneous adverse events are common in the pediatric population as in adults, but the clinical spectrum is different. Although considered mild, multiple dermatological consultations reflect the distress caused by these events. Dermatologists have a central role in the multidisciplinary care of pediatric patients receiving these agents.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"565-571"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141075534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.","authors":"Julia Clabbers, Noor van van Oosten, Marieke Bolling, Maaike Vreeburg, Michel van Geel, Peter Steijlen, Antoni Gostynski","doi":"10.1159/000533934","DOIUrl":"10.1159/000533934","url":null,"abstract":"<p><strong>Background: </strong>Acitretin, a synthetic vitamin A derivative, is the most studied and widely used oral retinoid for ichthyoses. Its major disadvantage is the need for contraceptive measures during 3 years after discontinuation. An alternative is needed for women of childbearing age. With alitretinoin, another retinoid, pregnancy is considered safe 1 month after discontinuation.</p><p><strong>Objectives: </strong>The aim of this study was to provide evidence for alitretinoin as an alternative for acitretin for ichthyosis in women of childbearing age. Our experience is shared in a case series combined with an overview of the current literature.</p><p><strong>Methods: </strong>Nine women of childbearing age (19-31 years, median 21) with different subtypes of ichthyosis (autosomal recessive congenital ichthyosis, (superficial) epidermolytic ichthyosis, erythrokeratoderma variabilis, and epidermolytic epidermal nevi, a mosaic form of epidermolytic ichthyosis) were included and treated with 30 mg alitretinoin during 2-28 months. Severity was measured by Ichthyosis Area Severity Index (IASI) and Investigator Global Assessment (IGA). A literature search in Pubmed using the Mesh terms \"alitretinoin,\" \"skin diseases, genetic\" and \"ichthyosis\" was performed.</p><p><strong>Results: </strong>Significant reduction in the mean scores of IGA, IASI-erythema, IASI-scaling, and IASI-total was seen. Seven patients are still being treated, 1 patient stopped to become pregnant, 1 patient discontinued due to financial reasons. Observed side effects were reversible headache (n = 6), asteatotic eczema (n = 1), \"not feeling well\" temporarily (n = 1), and easier blistering of the feet (n = 1). The literature search resulted in six case reports and case series about alitretinoin in ichthyosis and ichthyosis syndromes with in total 29 patients. The vast majority of articles (21/29) reported significant improvement or even complete remission of skin symptoms. However, validated outcome measures to support these results were lacking. Side effects (n = 16) were relatively mild, except for benign intracranial hypertension (n = 1) and autoimmune hypothyroidism (n = 1).</p><p><strong>Conclusion: </strong>Our study shows, with validated outcome measures, that alitretinoin is effective to mitigate the symptoms of ichthyosis in women of childbearing age and a suitable alternative to acitretin.</p>","PeriodicalId":11185,"journal":{"name":"Dermatology","volume":" ","pages":"170-177"},"PeriodicalIF":3.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10209887","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}