Journal of Investigative Dermatology最新文献

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IF 5.7 2区 医学
Journal of Investigative Dermatology Pub Date : 2026-03-01 Epub Date: 2026-02-20 DOI: 10.1016/j.jid.2025.12.012
{"title":"Editors’ Picks","authors":"","doi":"10.1016/j.jid.2025.12.012","DOIUrl":"10.1016/j.jid.2025.12.012","url":null,"abstract":"","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"146 3","pages":"Page 564"},"PeriodicalIF":5.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147387443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Scalable Acid-Aided Lysis of Skin Samples Improves Proteome Coverage 可扩展的酸辅助裂解皮肤样品提高蛋白质组覆盖率。
IF 5.7 2区 医学
Journal of Investigative Dermatology Pub Date : 2026-03-01 Epub Date: 2025-09-04 DOI: 10.1016/j.jid.2025.08.033
Max Benjamin Sauerland , Tugay Karakaya , Morten Bahrt Haulrig , Marianne Bengtson Løvendorf , Trine Schønfeldt , Maja Søberg Udsen , Liv Eidsmo , Hans-Dietmar Beer , Beatrice Dyring-Andersen , Mads Gyrd-Hansen
{"title":"Scalable Acid-Aided Lysis of Skin Samples Improves Proteome Coverage","authors":"Max Benjamin Sauerland ,&nbsp;Tugay Karakaya ,&nbsp;Morten Bahrt Haulrig ,&nbsp;Marianne Bengtson Løvendorf ,&nbsp;Trine Schønfeldt ,&nbsp;Maja Søberg Udsen ,&nbsp;Liv Eidsmo ,&nbsp;Hans-Dietmar Beer ,&nbsp;Beatrice Dyring-Andersen ,&nbsp;Mads Gyrd-Hansen","doi":"10.1016/j.jid.2025.08.033","DOIUrl":"10.1016/j.jid.2025.08.033","url":null,"abstract":"<div><div>Liquid chromatography-mass spectrometry is an evolving tool for comprehensive proteomic analyses across tissues. Despite the widespread use of liquid chromatography-mass spectrometry in dermatology, full-thickness human skin remains challenging to analyze. The skin extracellular matrix presents 2 major obstacles: the extensive crosslinking complicates protein extraction, and the high abundance of extracellular matrix proteins can mask lower-abundance proteins, reducing identification numbers. These limitations hinder progress in skin proteomics research. To address these challenges, we adapted the trifluoroacetic acid–based SPEED (Sample Preparation by Easy Extraction and Digestion) method for skin samples. Trifluoroacetic acid does not disrupt most crosslinks, allowing for the removal of abundant crosslinked extracellular matrix proteins. This enhanced proteome coverage, increasing the number of identified protein groups to over 6200 in healthy human skin. The improved sensitivity enabled the use of minimally invasive 2-mm punch biopsies, potentially facilitating greater patient enrolment than commonly used larger punch biopsies. We anticipate that these advancements in sample preparation will pave the way for analysis tools such as machine learning in skin proteomics, which require large datasets with high identification numbers. Furthermore, we extend this approach to tape strip proteomics and identify up to 2300 proteins in healthy skin, providing a cost-effective, scalable, and sensitive alternative to current workflows.</div></div>","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"146 3","pages":"Pages 788-796.e4"},"PeriodicalIF":5.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145008666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Metformin Treatment Protects Mice from Glucose-Promoted Psoriasiform Dermatitis through Enrichment of Akkermansia muciniphila with Modulation of Bacterial Tryptophan Metabolites 二甲双胍治疗通过调节细菌色氨酸代谢物富集嗜粘液阿克曼氏菌,保护小鼠免受葡萄糖促进的牛皮癣样皮炎。
IF 5.7 2区 医学
Journal of Investigative Dermatology Pub Date : 2026-03-01 Epub Date: 2025-08-27 DOI: 10.1016/j.jid.2025.08.017
Yuhsien Lai , Zhuoyu Jiang , Xiaonan Qiu , Dan Hong , Xiuting Liu , Shenyin Liu , Xuesong Wu , Shumeng Guo , Joshua D. Bloomstein , Sam T. Hwang , Guozhen Tan , Liangchun Wang , Zhan Zhang , Zhenrui Shi
{"title":"Metformin Treatment Protects Mice from Glucose-Promoted Psoriasiform Dermatitis through Enrichment of Akkermansia muciniphila with Modulation of Bacterial Tryptophan Metabolites","authors":"Yuhsien Lai ,&nbsp;Zhuoyu Jiang ,&nbsp;Xiaonan Qiu ,&nbsp;Dan Hong ,&nbsp;Xiuting Liu ,&nbsp;Shenyin Liu ,&nbsp;Xuesong Wu ,&nbsp;Shumeng Guo ,&nbsp;Joshua D. Bloomstein ,&nbsp;Sam T. Hwang ,&nbsp;Guozhen Tan ,&nbsp;Liangchun Wang ,&nbsp;Zhan Zhang ,&nbsp;Zhenrui Shi","doi":"10.1016/j.jid.2025.08.017","DOIUrl":"10.1016/j.jid.2025.08.017","url":null,"abstract":"<div><div>Although diet has been regarded as a potential environmental risk factor for psoriasis, the precise contribution of specific dietary components, such as sugar, to its pathogenesis remains uncertain. Metformin, a primary medication for type II diabetes mellitus, has been documented to yield improvements in psoriasis. Earlier research indicates that the antihyperglycemic impact of metformin is associated with changes in gut microbiota. Nonetheless, the role of gut microbiota in the antipsoriatic effects of metformin remains unclear. In this study, we showed that 4 weeks of glucose intake exacerbated psoriasiform dermatitis (PsD) in mice, which resolved with oral metformin treatment. The exacerbation and resolution of PsD were mediated through effects on the gut microbiota. Supplementation with <em>Akkermansia muciniphila</em>, enriched by metformin, or Amuc_1100 improved PsD in glucose-fed mice but not in the control mice. Glucose intake resulted in reduced serum levels of indole-3-acetic acid, a microbial tryptophan metabolite, which were reversed by <em>A muciniphila</em> and Amuc_1100 treatment. Oral administration and intradermal injection of indole-3-acetic acid protected mice from glucose-promoted PsD with suppressed expression of antimicrobial peptides, specifically S100A8, in the epidermis. Collectively, increases of <em>A muciniphila</em> through metformin treatment led to reversal of glucose-promoted PsD in mice, possibly through production of the microbial tryptophan metabolite indole-3-acetic acid.</div></div>","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"146 3","pages":"Pages 722-733.e10"},"PeriodicalIF":5.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144984533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Distinct Comorbidity Clusters and their Genetic Associations with Atopic Dermatitis in Middle-Aged and Elderly Adults 中老年人特应性皮炎的独特共病群及其遗传关联
IF 5.7 2区 医学
Journal of Investigative Dermatology Pub Date : 2026-03-01 Epub Date: 2025-09-02 DOI: 10.1016/j.jid.2025.08.028
Qi Wang , Qinxiao Qiu , Hongpeng Sun , Yuqing Liu , Weiyu Chen , Shitong Rao , Ruogu Meng , Danqi Li , Juan Tao
{"title":"Distinct Comorbidity Clusters and their Genetic Associations with Atopic Dermatitis in Middle-Aged and Elderly Adults","authors":"Qi Wang ,&nbsp;Qinxiao Qiu ,&nbsp;Hongpeng Sun ,&nbsp;Yuqing Liu ,&nbsp;Weiyu Chen ,&nbsp;Shitong Rao ,&nbsp;Ruogu Meng ,&nbsp;Danqi Li ,&nbsp;Juan Tao","doi":"10.1016/j.jid.2025.08.028","DOIUrl":"10.1016/j.jid.2025.08.028","url":null,"abstract":"","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"146 3","pages":"Pages 843-847.e15"},"PeriodicalIF":5.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145002372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Differences in Drug Survival of TNF-alpha inhibitors between Pediatric and Adult Hidradenitis Suppurativa Patients 小儿和成人化脓性汗腺炎患者tnf - α抑制剂药物生存期的差异
IF 5.7 2区 医学
Journal of Investigative Dermatology Pub Date : 2026-03-01 Epub Date: 2026-03-09 DOI: 10.1016/S0022-202X(26)00621-4
Robyn Guo BS , Tarannum Jaleel MD, MSc , Amy Buros Stein PhD , Anna Cristina Garza-Mayers MD, PhD , Daniela Kroshinsky MD, MPH
{"title":"Differences in Drug Survival of TNF-alpha inhibitors between Pediatric and Adult Hidradenitis Suppurativa Patients","authors":"Robyn Guo BS ,&nbsp;Tarannum Jaleel MD, MSc ,&nbsp;Amy Buros Stein PhD ,&nbsp;Anna Cristina Garza-Mayers MD, PhD ,&nbsp;Daniela Kroshinsky MD, MPH","doi":"10.1016/S0022-202X(26)00621-4","DOIUrl":"10.1016/S0022-202X(26)00621-4","url":null,"abstract":"<div><div>Studies suggest infliximab has comparable drug survival to adalimumab in adult hidradenitis suppurativa (HS) patients. Real-world biologic survival in pediatric HS patients has not been previously investigated. Our study population included all HS patients who initiated TNFi therapy between 1/1/13 and 12/31/23. KM curves were used to calculate survival at 12 and 24 months following biologic initiation. Factors associated with biologic survival were analyzed using adjusted Cox proportional hazards regression. Pediatric adalimumab and infliximab survival at 12 and 24 months was 90.6% and 78.3% and 54.5% and 36.4%, respectively. Adult adalimumab and infliximab survival at 12 and 24 months was 72.7% and 46.0% and 68.8% and 62.5%, respectively. TNFi survival at 12 and 24 months for those with pelvic disease was 78.8% and 59.8% compared to 89.5% and 83.9% for those with no pelvic disease. TNFi survival at 12 and 24 months for biologic naïve patients was 88.1% and 72.7% compared to 53.3% and 30.5% for non-naïve patients. Cox regression revealed older age at HS diagnosis, gluteal HS lesions, and use of systemic steroids are associated with decreased adalimumab survival in pediatric patients. Our results suggest adalimumab survival is superior to infliximab in pediatric HS patients. They also suggest adalimumab survival in pediatric HS patients is superior to adult HS patients. Finally our data show TNFi survival is higher in biologic naive patients and those with no pelvic disease.</div></div>","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"146 3","pages":"Page S21"},"PeriodicalIF":5.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147427081","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Assessing Endocrine Disease Risk in Pediatric Early-Onset Hidradenitis Suppurativa 评估儿童早发性化脓性汗腺炎的内分泌疾病风险
IF 5.7 2区 医学
Journal of Investigative Dermatology Pub Date : 2026-03-01 Epub Date: 2026-03-09 DOI: 10.1016/S0022-202X(26)00622-6
Alekhya Gurram BA , Lindy Ross MD
{"title":"Assessing Endocrine Disease Risk in Pediatric Early-Onset Hidradenitis Suppurativa","authors":"Alekhya Gurram BA ,&nbsp;Lindy Ross MD","doi":"10.1016/S0022-202X(26)00622-6","DOIUrl":"10.1016/S0022-202X(26)00622-6","url":null,"abstract":"<div><div>Introduction: Pediatric hidradenitis suppurativa (HS) is increasingly recognized as a condition associated with metabolic and hormonal disturbances. Given concerns about early endocrine disruption, this study investigates whether children with early-onset HS have a higher risk of developing endocrine and immune-related comorbidities. Methods: Using the TriNetX Research Network, pediatric HS patients were divided into earlier-onset (1—9 years) and later-onset (10—18 years) cohorts. Comorbidities included metabolic syndrome, diabetes, obesity, lipoprotein disorders, thyroid dysfunction, polycystic ovarian syndrome (PCOS), vitamin D deficiency, inflammatory bowel disease (IBD), and juvenile idiopathic arthritis (JIA). Patients with prior diagnoses of each outcome were excluded. Cohorts were propensity-matched by race, ethnicity, sex, and pre-existing comorbid conditions not under study. Hazard ratios (HRs), 95% confidence intervals (CI), and risk differences were calculated at 1, 3, and 5 years post-HS diagnosis. Results: Later-onset HS (10—18 years) was significantly associated with PCOS (HR 0.369, CI [0.207—0.656], p=0.0040) and thyroid dysfunction (p=0.0015) anytime after HS diagnosis, and with JIA at 3 years post-diagnosis (p=0.0015). Discussion: Later-onset HS showed stronger associations with endocrine and autoimmune comorbidities, possibly due to pubertal hormonal changes. Ongoing analyses will further explore underlying mechanisms and pre-HS endocrine markers.</div></div>","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"146 3","pages":"Page S22"},"PeriodicalIF":5.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147427082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Leveraging Academic — Industry Collaborations to Deliver New Insights into Pediatric Skin & Medical Guidelines: Hope & Challenges 利用学术-行业合作提供儿科皮肤和医疗指南的新见解:希望与挑战
IF 5.7 2区 医学
Journal of Investigative Dermatology Pub Date : 2026-03-01 Epub Date: 2026-03-09 DOI: 10.1016/S0022-202X(26)00618-4
Marty Visscher PhD , Abhishek Surushe , Andrew Carr PhD
{"title":"Leveraging Academic — Industry Collaborations to Deliver New Insights into Pediatric Skin & Medical Guidelines: Hope & Challenges","authors":"Marty Visscher PhD ,&nbsp;Abhishek Surushe ,&nbsp;Andrew Carr PhD","doi":"10.1016/S0022-202X(26)00618-4","DOIUrl":"10.1016/S0022-202X(26)00618-4","url":null,"abstract":"<div><div>Neonatal skin faces many challenges as it transitions from a warm, wet environment to a cooler dry environment. One of the first materials to contact baby’s skin is a diaper and these products help manage urine and stool to avoid irritation in the diapered area. As with any product that interacts with babies’ skin, foundational learning is needed to understand how skin develops in utero, at birth and beyond. In this regard, the scientific literature is sparse in the characterization of neonatal skin and longitudinal studies to understand skin maturation, with even less known about the skin in the diapered area. To this end, the last 50 years, fundamental, mechanistic understanding of skin development and the of the causes of diaper dermatitis have been provided through collaborations between parents and babies, academic and institutional healthcare professionals, and industrial scientists. Much of this work is available through the medical literature. This highlights the importance of the triad of: 1) consumers and patients, 2) academicians and clinicians, and 3) industry scientists, as a force for good in translating scientific insight into products that have significant impacts on Pediatric health and well-being. This is, indeed, a clear demonstration of the “bench to bedside” scientific approach that is emphasized as a top priority. Beginning in the 1980s academic and industry scientists deciphered several of the causes of diaper dermatitis including skin overhydration,</div></div>","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"146 3","pages":"Page S21"},"PeriodicalIF":5.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147427084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Improving Psychosocial Documentation to Advance Care in Pediatric Psoriasis 改善心理社会文献以促进小儿牛皮癣的护理
IF 5.7 2区 医学
Journal of Investigative Dermatology Pub Date : 2026-03-01 Epub Date: 2026-03-09 DOI: 10.1016/S0022-202X(26)00632-9
Holly Heck BS , Heather Gochnauer MD
{"title":"Improving Psychosocial Documentation to Advance Care in Pediatric Psoriasis","authors":"Holly Heck BS ,&nbsp;Heather Gochnauer MD","doi":"10.1016/S0022-202X(26)00632-9","DOIUrl":"10.1016/S0022-202X(26)00632-9","url":null,"abstract":"<div><div>Pediatric psoriasis is a chronic inflammatory condition that can significantly impact a child’s quality of life, contributing to psychosocial challenges such as depression, anxiety, bullying, and academic difficulties. However, these psychosocial burdens are often under-documented in clinical practice, potentially affecting both care quality and access to advanced treatments like biologics. This project proposes a quality improvement (QI)-focused retrospective chart review to evaluate how often psychosocial concerns, such as mental health symptoms, school-related issues, or social stressors, are documented during dermatology visits for pediatric psoriasis patients. Additionally, the study will assess whether documentation aligns with shared decision-making practices and insurance requirements for biologic approvals. A secondary goal is to explore whether improved documentation could facilitate better treatment access. Future directions may include prospective surveys assessing patient and caregiver perceptions of psychosocial screening during clinical care. Findings from this work aim to inform best practices for integrating psychosocial considerations into pediatric psoriasis management and to identify opportunities for enhancing provider—patient communication and equitable treatment access.</div></div>","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"146 3","pages":"Page S24"},"PeriodicalIF":5.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147427094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Skin is a Key to Identifying Bachmann-Bupp syndrome: A treatable ultra-rare disorder 皮肤是识别巴赫曼-布普综合征的关键:一种可治疗的超罕见疾病
IF 5.7 2区 医学
Journal of Investigative Dermatology Pub Date : 2026-03-01 Epub Date: 2026-03-09 DOI: 10.1016/S0022-202X(26)00586-5
Cari Wells MS , Elizabeth VanSickle MS , Andre Bachmann PhD , Julianne Michael MS , Chad Schultz BS , Kelly Nguyen MPH , Melissa Hoefer PharmD , Surender Rajasekaran MD, MPH , Caleb Bupp MD
{"title":"Skin is a Key to Identifying Bachmann-Bupp syndrome: A treatable ultra-rare disorder","authors":"Cari Wells MS ,&nbsp;Elizabeth VanSickle MS ,&nbsp;Andre Bachmann PhD ,&nbsp;Julianne Michael MS ,&nbsp;Chad Schultz BS ,&nbsp;Kelly Nguyen MPH ,&nbsp;Melissa Hoefer PharmD ,&nbsp;Surender Rajasekaran MD, MPH ,&nbsp;Caleb Bupp MD","doi":"10.1016/S0022-202X(26)00586-5","DOIUrl":"10.1016/S0022-202X(26)00586-5","url":null,"abstract":"<div><div>Bachmann-Bupp Syndrome (BABS) is a rare disorder due to mutations in the ODC1 gene, causing premature truncation in the ODC protein. This produces cellular accumulation of active ODC protein and putrescine. Individuals with BABS have a history of global delays, hypotonia, macrocephaly, and non-congenital alopecia. Nineteen individuals are known to have BABS with neurodevelopmental history often prompting evaluation. However, most patients presented with unusual dermatologic features. Absent/sparse scalp hair, eyebrows and eyelashes were most reported. A subset of cases also had recurrent follicular cysts. Four patients have been treated with difluoromethylornithine (DFMO) under FDA-approved single-patient INDs. DFMO is an irreversible ODC inhibitor that is approved for the treatment of African trypanosomiasis, hirsutism, and neuroblastoma. Patient age at treatment initiation ranged from 3m to 6y, with the first patient having been treated for over 5y. Treatment has been well-tolerated with no drug-related adverse events. All have shown neurological improvement. Dermatologically, they have demonstrated robust regrowth of hair and cessation of follicular cysts since the start of therapy. In summary, BABS is an ultra-rare neurodevelopmental disorder with marked dermatologic features. Early recognition of these features provides clinicians, especially dermatologists, an opportunity to aid in diagnosis of BABS and increase access to life-altering pharmacological intervention.</div></div>","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"146 3","pages":"Page S13"},"PeriodicalIF":5.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147427321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Beyond the Surface: Porokeratotic Eccrine Nevus as a Marker of Genetic Mosaicism and Potential Malignancy 表面之外:作为遗传嵌合和潜在恶性肿瘤标记的角化性汗腺痣
IF 5.7 2区 医学
Journal of Investigative Dermatology Pub Date : 2026-03-01 Epub Date: 2026-03-09 DOI: 10.1016/S0022-202X(26)00585-3
Gaity Wahab BS , Danny Lee MD , Magda Wojtara MS , Kailey Bae BA , Shivani Ambardekar MD , Monica Amirian BS , Jenny Lee BA , Annabelle Alrez BS
{"title":"Beyond the Surface: Porokeratotic Eccrine Nevus as a Marker of Genetic Mosaicism and Potential Malignancy","authors":"Gaity Wahab BS ,&nbsp;Danny Lee MD ,&nbsp;Magda Wojtara MS ,&nbsp;Kailey Bae BA ,&nbsp;Shivani Ambardekar MD ,&nbsp;Monica Amirian BS ,&nbsp;Jenny Lee BA ,&nbsp;Annabelle Alrez BS","doi":"10.1016/S0022-202X(26)00585-3","DOIUrl":"10.1016/S0022-202X(26)00585-3","url":null,"abstract":"<div><div>Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare skin disorder characterized by linear, hyperkeratotic papules often following Blaschko’s lines. While usually benign, reports of malignant transformation, particularly to squamous cell carcinoma, highlight its clinical importance. Increasing evidence links PEODDN to postzygotic mosaic mutations in the GJB2 gene, which encodes connexin 26, a gap junction protein essential for communication between keratinocytes and eccrine structures. Disruption of this signaling may underlie both lesion development and oncogenic potential. This narrative review synthesizes recent literature from 2015 to 2025, integrating clinical, histopathologic, genetic, and oncologic perspectives. Findings reveal a consistent association between GJB2 mosaicism and disease pathogenesis but no unified framework connecting molecular alterations to histologic changes, disease progression, or malignancy risk. Despite multiple case reports, there are no formal guidelines for diagnosis, monitoring, or surveillance, and current treatments, primarily surgical excision or laser therapy, show variable results. We propose a working model linking connexin 26 dysfunction to eccrine duct involvement and neoplastic potential, underscoring the need for standardized diagnostic tools, long-term follow-up protocols, and genetic counseling, particularly for patients with extensive or atypical presentations.</div></div>","PeriodicalId":16311,"journal":{"name":"Journal of Investigative Dermatology","volume":"146 3","pages":"Page S12"},"PeriodicalIF":5.7,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147427322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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