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Permanent URI for this collectionhttps://hdl.handle.net/1807/100050

This collection contains a copy of open access articles published by U of T authors in Karger journals since March 2020. These copies are provided by the publisher as part of the transformative open access agreement between the University of Toronto and Karger Publishers.

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Human Host Defense Peptide LL-37 Suppresses TNFα-Mediated Matrix Metalloproteinases MMP9 and MMP13 in Human Bronchial Epithelial Cells
(S. Karger AG, 2024-03-12) Altieri, Anthony; Marshall, Courtney Lynn; Ramotar, Padmanie; Lloyd, Dylan; Hemshekhar, Mahadevappa; Spicer, Victor; van der Does, Anne M.; Mookherjee, Neeloffer
Galectin-3 and Soluble CD146 Identify Cardiorenal Injuries in Severe Burn Patients: A Biomarker-Based Approach
(S. Karger AG, 2024-08-12) Boutin, Louis; Soussi, Sabri; Garcia Lavello, Angèle; Masson Fron, Elisabeth; Deniau, Banjamin; Legrand, Matthieu; Blot-Chabaud, Marcel; Muriel Figueroa, Stefanny; Envangelos Chadjichristos, Christos; Azibani, Feriel; Dépret, Fançois
Optical Coherence Tomography Abnormalities as the Presenting Sign of an Involuted Sellar/Suprasellar Mass
(Karger, 2024-10-25) Vosoughi, Arshia; Micieli, Jonathan A.
Introduction: Pituitary adenomas are benign tumours that can lead to visual loss through compression of the optic chiasm. Patients with pituitary adenomas often present with visual field defects (commonly bitemporal hemianopia), but some may be asymptomatic. In such cases, abnormalities may only be detected through visual field testing or optical coherence tomography (OCT) of the ganglion cell-inner plexiform layer (GCIPL), which may provide a more sensitive method for detecting such abnormalities. Case Presentation: A 72-year-old man was incidentally found to have binasal OCT-GCIPL thinning during a routine eye examination. Visual acuity was 20/20 in both eyes. Pupils were equal and reactive without a relative afferent pupillary defect. His Humphrey 24-2 SITA-Fast visual field test results were normal. A magnetic resonance imaging (MRI) revealed a nonenhancing (cystic) sellar/suprasellar mass measuring 1.7 cm craniocaudal by 2.1 cm anteroposteriorly, without associated optic chiasm compression. The lesion was suspected to be either a cystic pituitary adenoma or a Rathke’s cleft cyst. Follow-up examination 1 year later showed all findings remained stable, including an unchanged visual acuity, visual fields, OCT-GCIPL, and MRI. Conclusion: The binasal thinning observed on OCT-GCIPL in this case, despite the absence of chiasmal compression on MRI, is suggestive of previous compression of the optic chiasm. This case highlights the potential for spontaneous regression of pituitary adenomas and underscores the importance of OCT-GCIPL as a vital tool for detecting optic chiasmal damage.
Roller Coasters and Retinal Detachment: Case Series and Review of Acceleration-Deceleration Retinal Injury
(Karger, 2024-09-12) Pickel, Lauren; Pimentel, Miguel Cruz; Naidu, Sumana; Devenyi, Robert G.; Mandelcorn, Efrem; Yan, Peng
Introduction: Anecdotal reports and limited reports suggest a possible link between activities involving rapid acceleration and retinal detachment. We present two novel such cases and review existing literature to investigate the plausibility of this association and delineate in what populations such an association may be more likely. Case Presentation: We report 2 cases of retinal detachment following roller coaster riding. The first, a 24-year-old woman with a family history of retinal detachment, presented with floaters after consecutive rides and was found to have an inferior temporal macula-sparing retinal detachment with associated retinal breaks. The second case, a 25-year-old female with a history of high myopia, presented with visual field defect and was found to have amacula-on retinal detachment with an accompanying tear at the edge of an area of lattice degeneration. Both were successfully treated with pneumatic retinopexy followed by laser retinopexy. Conclusion: Rapid acceleration/deceleration forces, such as those experienced on roller coasters, could potentially lead to retinal detachment. Structural predisposition is likely necessary for acceleration/deceleration injury to lead to retinal detachment, with all known cases having risk factors, including high myopia and positive family history. These same forces in eyes without structural predisposition have resulted in hemorrhage, but not detachment.
Cat Scratch Disease Presenting with Right Branch Retinal Artery Occlusion and Left Neuroretinitis
(Karger, 2024-08-12) Jafari, Samira; Micieli, Jonathan A.
Introduction: Bartonella henselae, the causative agent of cat scratch disease (CSD), presents with diverse ocular manifestations, posing diagnostic challenges. This study aimed to elucidate the diagnostic complexities through a unique case. Case Presentation: A 42-year-old male presented with vision loss in the right eye, subsequent to flu-like symptoms following exposure to a stray kitten. Clinical examination revealed branch retinal artery occlusion (BRAO) in the right eye and neuroretinitis in the left, indicating concurrent ocular manifestations of CSD. Thorough investigations, including serological testing, ruled out alternative causes, highlighting the rarity of such coexisting ocular complications. Conclusions: The coexistence of BRAO and neuroretinitis in different eyes underscores the variable presentation of CSD. Recognition of infectious etiologies, particularly Bartonella, is paramount in diagnosing ocular vasculopathies. This case emphasizes the importance of considering Bartonella infection in patients with ocular vascular occlusions, especially in the context of recent cat exposure and systemic symptoms suggestive of CSD.
Primary Vitreoretinal Lymphoma Presenting Solely with Asymptomatic Peripheral Drusenoid Lesions
(Karger, 2024-08-08) Lu, Brianna; Wong, Jovi C.Y.; Kritzinger, Justin; Wong, David T.
Introduction: Primary vitreoretinal lymphoma (PVRL) is a rare malignant tumor that typically involves the retina, vitreous, or optic nerve head. PVRL often occurs concurrently with central nervous system lymphoma. Here, we present the first report of a patient with biopsy-confirmed PVRL presenting solely with asymptomatic peripheral drusenoid lesions. Case Presentation: A woman in her 70s presented with new elevated amelanotic yellow lesions with overlying pigment in both of her eyes not previously seen prior to cataract surgery. Over the next 4 months, there was waxing and waning of lesions which resolved and first appeared in the right eye and then the left. A diagnostic vitrectomy of the left eye revealed B-cell lymphoma. The patient elected for initial treatment with radiation therapy of both orbits. A new lesion was identified in her right eye nearly 18 months after starting maintenance therapy with ibrutinib, following which systemic chemotherapy with methotrexate was initiated. Conclusion: Elevated clinical suspicion for a malignant process is needed for patients with progressive new retinal lesions in older age. Local radiation therapy to the orbits alone may not be sufficient to prevent progression despite initial presentation showing confinement of disease to the intraocular space.
Late-Onset Sepsis among Extremely Preterm Infants of 24–28 Weeks Gestation: An International Comparison in 10 High-Income Countries
(Karger, 2024-06-18) Klinger, Gil; Reichman, Brian; Norman, Mikael; Kusuda, Satoshi; Battin, Malcolm; Helenius, Kjell; Isayama, Tetsuya; Lui, Kei; Adams, Mark; Vento, Maximo; Hakansson, Stellan; Beltempo, Marc; Poggi, Chiara; San Feliciano, Laura; Lehtonen, Liisa; Bassler, Dirk; Yang, Junmin; Shah
Elevated Middle Cerebral Artery Peak Systolic Velocity in Non-Anemic Fetuses: Providing a Better Understanding of Enigmatic Middle Cerebral Artery Peak Systolic Velocity
(Karger, 2024-07-18) Anabusi, Saja; Van Mieghem, Tim; Ryan, Greg; Shinar, Shiri
Efficacy and Safety of Intravitreal Faricimab in Neovascular Age-Related Macular Degeneration, Diabetic Macular Edema, and Retinal Vein Occlusion: A Meta-Analysis
(Karger, 2024-10-03) Nichani, Prem A H; Popovic, Marko M; Mihalache, Andrew; Pathak, Ananya; Muni, Rajeev H; Wong, David T W; Kertes, Peter J
Development of a Patient-Centered Pathway of Care for Retinoblastoma Patients: A Mixed-Methods Pilot Study
(S. Karger AG, 2024-07-17) Ristevski, Ivana; Flegg, Kaitlyn; Al-Hammadi, Mawj; Livingstone, Morgan; Dorna, Taline; Low, Leslie; Robert, Jill; Ulster, Alissa; Kletke, Stephanie; Mallipatna, Ashwin; Paton, Katherine; Dimaras, Helen
Treatments for Onychomycosis: A Bibliometric Analysis
(Karger, 2024-10) Gupta, Aditya K.; Taylor, Daniel; Polla Ravi, Shruthi; Wang, Tong; Talukder, Mesbah
Introduction: Oral antifungals were the earliest treatments to receive approval for the management of onychomycosis and have a long-standing record to support their efficacy. Topical antifungals and device-based treatments have been explored and some implemented in more recent years as alternatives to traditional oral antifungals. The present bibliometric analysis summarizes trends in publication frequency for onychomycosis treatment modalities over time and characterizes their body of literature in terms of types of studies available and relative level of evidence. Methods: A comprehensive literature search was performed using Web of Science and SCOPUS databases. Results: Covering all publications from 1970 to present day, our search identified oral therapeutics n = 295 articles (n = 63 randomized control trials [RCTs]), topical therapeutics n = 358 articles (n = 72 RCTs), and device-based treatments n = 158 articles (n = 37 RCTs). Spikes in research activity surround FDA approval of therapeutics for each treatment modality. Research activity within the last decade has focused on topical and device-based treatments. Evidence for efficacy of device-based treatments is lacking from relatively few high-quality RCTs. Conclusion: With growing concern for non-dermatophyte mold onychomycosis and terbinafine resistance, researchers should validate the efficacy and safety of device-based treatments with high-quality studies.
The Association between Retinal Thickness Fluctuations and Visual Outcomes under Anti-Vascular Endothelial Growth Factor Therapy: A Systematic Review and Meta-Analysis
(Karger, 2024-10) Pandya, Bhadra; Mihalache, Andrew; Hatamnejad, Amin; Grad, Justin; Popovic, Marko M; Wong, David T W
Introduction: The objective of this study was to examine the association between retinal thickness (RT) fluctuations and best corrected visual acuity (BCVA) in eyes with neovascular AMD, macular edema secondary to RVO, and DME treated with anti-VEGF therapy. Methods: A systematic search of Ovid MEDLINE, EMBASE, and the Cochrane Library was performed from January 2006 to March 2024. Studies comparing visual or anatomic outcomes of patients treated with anti-VEGF therapy, stratified by magnitudes of RT fluctuation, were included. ROBINS-I and Cochrane RoB 2 tools were used to assess risk of bias, and certainty of evidence was evaluated with GRADE criteria. Meta-analysis was performed with a random-effects model. Primary outcomes were final BCVA and change in BCVA relative to baseline. Results: 15,725 articles were screened; 15 studies were identified in the systematic review and 5 studies were included in the meta-analysis. Final ETDRS VA was significantly worse in eyes with the highest level of RT fluctuation (weighted mean difference [WMD] = 7.86 letters; 95% CI, 4.97, 10.74; p < 0.00001; I2 = 81%; 3,136 eyes). RT at last observation was significantly greater in eyes with high RT fluctuations (WMD = −27.35 μm; 95% CI, −0.04, 54.75; p = 0.05; I2 = 88%; 962 eyes). Conclusions: Final visual outcome is associated with magnitude of RT fluctuation over the course of therapy. It is unclear whether minimizing RT fluctuations would help optimize visual outcomes in patients treated with anti-VEGF therapy. These findings are limited by a small set of studies, risk of bias, and considerable heterogeneity.
Efficacy and Safety of Hydrocortisone, Ascorbic Acid, and Thiamine Combination Therapy for the Management of Sepsis and Septic Shock: A Systematic Review and Meta-Analysis of Randomised Controlled Trials
(Karger, 2024-10) Deng, Jiawen; Zuo, Qi Kang; Venugopal, Kaden; Hung, Jay; Zubair, Areeba; Blais, Sara; Porter, Victoria; Moskalyk, Myron; Heybati, Kiyan
Introduction: This systematic review aimed to assess the efficacy and safety of hydrocortisone, ascorbic acid, and thiamine (HAT) combination therapy in patients with sepsis and septic shock. Methods: We conducted a database search in MEDLINE, Embase, CENTRAL, Web of Science, and CNKI for randomised controlled trials (RCTs) comparing HAT against placebo/standard of care or against hydrocortisone in sepsis/septic shock patients. Outcomes included mortality, ICU/hospital length of stay (LOS), vasopressor durations, mechanical ventilation durations, change in SOFA at 72 h, and adverse events. RCT results were pooled in random-effects meta-analyses. Quality of evidence was assessed using GRADE. Results: Fifteen RCTs (N = 2,594) were included. At 72 h, HAT reduced SOFA scores from baseline (mean difference [MD] −1.16, 95% confidence interval [CI]: −1.58 to −0.74, I2 = 0%) compared to placebo/SoC, based on moderate quality of evidence. HAT also reduced the duration of vasopressor use (MD −18.80 h, 95% CI: −23.67 to −13.93, I2 = 64%) compared to placebo/SoC, based on moderate quality of evidence. HAT increased hospital LOS (MD 2.05 days, 95% CI: 0.15–3.95, I2 = 57%) compared to placebo/SoC, based on very low quality of evidence. HAT did not increase incidence of adverse events compared to placebo/SoC. Conclusions: HAT appears beneficial in reducing vasopressor use and improving organ function in sepsis/septic shock patients. However, its advantages over hydrocortisone alone remain unclear. Future research should use hydrocortisone comparators and distinguish between sepsis-specific and comorbidity- or care-withdrawal-related mortality.
Deep Brain Stimulation of the Globus Pallidus Internus in a Child with Refractory Dystonia due to L2-Hydroxyglutaric Aciduria
(Karger, 2024) Alamri, Abdullah; Breitbart, Sara; Warsi, Nebras; Rayco, Eriberto; Ibrahim, George; Fasano, Alfonso; Gorodetsky, Carolina
Introduction: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder marked by progressive and debilitating psychomotor deficits. Here, we report the first patient with L2HGA-related refractory dystonia that was managed with deep brain stimulation to the bilateral globus pallidus internus (GPi-DBS). Case Presentation: We present a 17-year-old female with progressive decline in cognitive function, motor skills, and language ability which significantly impaired activities of daily living. Neurological exam revealed generalized dystonia, significant choreic movements in the upper extremities, slurred speech, bilateral dysmetria, and a wide-based gait. Brisk deep tendon reflexes, clonus, and bilateral Babinski signs were present. Urine 2-OH-glutaric acid level was significantly elevated. Brain MRI showed extensive supratentorial subcortical white matter signal abnormalities predominantly involving the U fibers and bilateral basal ganglia. Genetic testing identified a homozygous pathogenic mutation in the L-2-hydroxyglutarate dehydrogenase gene c. 164G>A (p. Gly55Asp). Following minimal response to pharmacotherapy, GPi-DBS was performed. Significant increases in mobility and decrease in dystonia were observed at 3 weeks, 6 months, and 12 months postoperatively. Conclusion: This is the first utilization of DBS as treatment for L2HGA-related dystonia. The resulting significant improvements indicate that pallidal neuromodulation may be a viable option for pharmaco-resistant cases, and possibly in other secondary metabolic dystonias.
Submacular and Intraretinal Fluid Associated with Arteritic Anterior Ischemic Optic Neuropathy
(Karger, 2024-06) Solish, Danielle; Micieli, Jonathan
Introduction: Anterior ischemic optic neuropathy (AION) is an ischemic disorder of the optic nerve and a common cause of acute, painless, permanent vision loss. It is divided into two types: arteritic AION (AAION) and non-arteritic anterior ischemic optic neuropathy (NAION). Although subretinal fluid associated with optic disc edema has been reported in cases of NAION, it is rarely described in AAION. Case Presentation: An 86-year-old female with a history of polymyalgia rheumatica presented with sudden vision loss in the left eye. Initial examination revealed left pallid optic disc edema with peripapillary hemorrhages. Optical coherence tomography (OCT) of the left macula showed intraretinal and submacular fluid. The patient was started on 50 mg of oral prednisone daily. The diagnosis of giant cell arteritis (GCA) was later confirmed with a positive temporal artery biopsy. Three weeks after presentation, an OCT was completed which demonstrated complete resolution of the intraretinal and submacular fluid. Although the presence of both intraretinal and subretinal fluid has been previously documented in cases of NAION, it is rarely reported in a patient with GCA. Conclusion: This is a newly described case of subretinal and intraretinal fluid in a patient with AAION. We postulate that the pathophysiology behind this is mediated by associated choroidal ischemia leading to altered permeability. OCT is an important imaging modality allowing for signs of GCA to be better characterized.
From Hair Loss to Vision Loss: Minoxidil-Associated CRVO in a Young Female
(Karger, 2024-03) Pickel, Lauren; Ji, Patrick Xiang; Abdelazim, Amr; Sivachandran, Nirojini
Introduction: Central retinal vein occlusion (CRVO) is a common retinal vascular disorder that is most often seen in older adults and individuals with vascular risk factors. Case Presentation: We report a case of CRVO with cystoid macular edema (CME) in a young, otherwise healthy patient taking minoxidil for hair loss. The patient had no known vascular risk factors, and a comprehensive coagulability workup was negative. The CRVO with CME resolved without intervention upon cessation of minoxidil. Conclusion: Possible mechanisms for minoxidil-associated retinal vascular disorders are explored. Thorough medication histories and the consideration of possible adverse drug events in patients without traditional risk factors are recommended.
The Relationship between Neurobiological Function and Inflammation in Depressed Children and Adolescents: A Scoping Review
(Karger, 2024-06) Schumacher, Anett; Muha, Jessica; Campisi, Susan C; Bradley-Ridout, Glyneva; Lee, Andy C H; Korczak, Daphne J
Introduction: Neurobiological dysfunction is associated with depression in children and adolescents. While research in adult depression suggests that inflammation may underlie the association between depression and brain alterations, it is unclear if altered levels of inflammatory markers provoke neurobiological dysfunction in early-onset depression. The aim of this scoping review was to provide an overview of existing literature investigating the potential interaction between neurobiological function and inflammation in depressed children and adolescents. Methods: Systematic searches were conducted in six databases. Primary research studies that included measures of both neurobiological functioning and inflammation among children (≤18 years) with a diagnosis of depression were included. Results: Four studies (240 participants; mean age 16.0 ± 0.6 years, 62% female) meeting inclusion criteria were identified. Studies primarily examined the inflammatory markers interleukin 6, tumor necrosis factor alpha, C-reactive protein, and interleukin 1 beta. Exploratory whole brain imaging and analysis as well as region of interest approaches focused on the anterior cingulate cortex, basal ganglia, and white matter tracts were conducted. Most studies found correlations between neurobiological function and inflammatory markers; however, depressive symptoms were not observed to moderate these effects. Conclusions: A small number of highly heterogeneous studies indicate that depression may not modulate the association between altered inflammation and neurobiological dysfunction in children and adolescents. Replication in larger samples using consistent methodological approaches (focus on specific inflammatory markers, examine certain brain areas) is needed to advance the knowledge of potential neuro-immune interactions early in the course of depression.
Social Media Misinformation about Pregnancy and COVID-19 Vaccines: A Systematic Review
(Karger, 2024-06) Malik, Mahnoor; Bauer-Maison, Natasha; Guarna, Giuliana; D'Souza, Rohan D
Objective: The objectives of this study were to identify common social media misconceptions about COVID-19 vaccination in pregnancy, explain the spread of misinformation, and identify solutions to guide clinical practice and policy. Methodology: A systematic review was conducted and the databases Embase and Medline were searched from December 2019 to February 8, 2023, using terms related to social media, pregnancy, COVID-19 vaccines and misinformation. The inclusion criteria were original research studies that discussed misinformation about COVID-19 vaccination during pregnancy on social media. The exclusion criteria were review articles, no full text, and not published in English. Two independent reviewers conducted screening, extraction, and quality assessment. Results: Our search identified 76 articles, of which 3 fulfilled eligibility criteria. Included studies were of moderate and high quality. The social media platforms investigated included Facebook, Google Searches, Instagram, Reddit, TikTok, and Twitter. Misinformation was related to concerns regarding vaccine safety, and its association with infertility. Misinformation was increased due to lack of content monitoring on social media, exclusion of pregnant women from early vaccine trials, lack of information from reputable health sources on social media, and others. Suggested solutions were directed at pregnancy care providers (PCPs) and public health/government. Suggestions included: (i) integrating COVID-19 vaccination information into antenatal care, (ii) PCPs and public health should increase their social media presence to disseminate information, (iii) address population-specific vaccine concerns in a culturally relevant manner, and others. Conclusion: Increased availability of information from reputable health sources through multiple channels could increase COVID-19 vaccine uptake in the pregnant population and help combat misinformation.
Optimizing Post-Acute Coronary Syndrome Dyslipidemia Management: Insights from the North American Acute Coronary Syndrome Reflective III
(Karger, 2024-06) Alanezi, Meshal; Yan, Andrew T; Tan, Mary K; Bourgeois, Ronald; Malek-Marzban, Peiman; Beharry, Rani; Alkurtass, Suhaib; Gyenes, Gabor T; Nadeau, Pierre-Louis; Nwadiaro, Nduka; Jedrzkiewicz, Sean; Gao, Dongsheng; Chandna, Harish; Nelson, William B; Goodman, Shaun G
Introduction: Despite contemporary practice guidelines, a substantial number of post-acute coronary syndrome (ACS) patients fail to achieve guideline-recommended LDL-C thresholds. Our study aimed to investigate this guideline recommendations-to-practice care gap. Specifically, we aimed to identify opportunities where additional lipid-lowering therapies are indicated and explore reasons for the non-prescription of guideline-recommended therapies. Methods: ACS patients with LDL-C ≥1.81 mmol/L (70 mg/dL) despite maximally tolerated statin ± ezetimibe therapy (including those intolerant of ≥2 statins) were enrolled 1–12 months post-event from 27 Canadian and US sites from September 2018 to October 2020 and followed up for three visits during the 12 months post-event. We determined the proportion of patients who did not achieve Canadian/US guideline-recommended LDL-C thresholds, the number of patients who would have been eligible for additional lipid-lowering therapies, and reasons behind lack of escalation in lipid-lowering therapies when indicated. Individual patient and aggregate practice feedback, including guideline-recommended intensification suggestions, were provided to each physician. Results: Of the 248 patients enrolled in the pilot study (median age 64 [57, 73] years, 31.5% female and STEMI 27.4%), 75.4% were on high-intensity statins on the first visit. A total of 18.5% of those who attended all 3 visits had an LDL-C measured only at the first visit which was above the threshold. After 1 year of follow-up, 51.9% of patients achieved LDL-C thresholds at either visit 2 or 3. In the context of feedback reminding physicians about guideline-directed LDL-C-modifying therapy in their individual participating patients, we observed an increase in the use of ezetimibe and PCSK9 inhibitor therapy at 3–12 months. This was associated with a significant lowering of the mean LDL-C (from 2.93 mmol/L [baseline] to 2.09 mmol/L [3–6 months] to 1.87 mmol/L [6–12 months]) and a significantly greater proportion of patients (from 0% [baseline] to 38.6% [3–6 months] to 53.4% [6–12 months]) achieving guideline-recommended LDL-C thresholds. The most prevalent reasons behind the non-intensification of LDL-C-lowering therapy with ezetimibe and/or PCSK9i were LDL-C levels being close to target, the pre-existing use of other lipid-lowering therapies, patient refusal, and cost. Conclusion: Although most patients post-ACS were on high-intensity statin therapy, almost 50% failed to achieve guideline-recommended LDL-C thresholds by 1-year follow-up. Furthermore, additional lipid-lowering therapies in this high-risk group were underprescribed, and this might be linked to several factors including potential gaps in physician knowledge, treatment inertia, patient refusal, and cost.
Bacterial Skin Dysbiosis in Darier Disease
(Karger, 2024-06) Reiter, Ofer; Leshem, Avner; Alexander-Shani, Rivka; Brandwein, Michael; Cohen, Yotam; Yeshurun, Algit; Ziv, Michael; Elinav, Eran; Hodak, Emmilia; Dodiuk-Gad, Roni P
Introduction: Darier disease is a rare inherited disease with dominant skin manifestations including keratotic papules and plaques on sebaceous and flexural areas. Secondary infection of skin lesions is common, and Staphylococcus aureus commonly colonizes these lesions. The aim of the study was to characterize the bacterial microbiome of cutaneous Darier lesions compared to normal-looking skin and disease severity. Methods: All patients with a history of Darier followed up at Emek Medical Center were invited to participate in the study. Patients that did not use antibiotics in the past month and signed informed consent had four skin sites sampled with swabs: scalp, chest, axilla, and palm. All samples were analyzed for bacterial microbiome using 16S rDNA sequencing. Results: Two hundred and eighty microbiome samples obtained from lesional and non-lesional skin of the scalp, chest, axilla, and palm of 42 Darier patients were included in the analysis. The most abundant bacterial genera across all skin sites were Propionibacterium, Corynebacterium, Paracoccus, Micrococcus, and Anaerococcus. Scalp and chest lesions featured a distinct microbiome configuration that was mainly driven by an overabundance of Staphylococci species. Patients with more severe disease exhibited microbiome alterations in the chest, axilla, and palm compared with patients with only mild disease, driven by Peptoniphilus and Moryella genera in scalp and palmar lesions, respectively. Conclusion:Staphylococci were significantly associated with Darier lesions and drove Darier-associated dysbiosis. Severity of the disease was associated with two other bacterial genera. Whether these associations also hold a causative role and may serve as a therapeutic target remains to be determined and requires further investigation.

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