Matthias Schmuth
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View article: Exploring Fourier-Transform Infrared Microscopy for Scabies Mite Detection in Human Tissue Sections: A Preliminary Technical Feasibility Study
Exploring Fourier-Transform Infrared Microscopy for Scabies Mite Detection in Human Tissue Sections: A Preliminary Technical Feasibility Study Open
Scabies, caused by Sarcoptes scabiei var. hominis, remains difficult to diagnose in histological routine when mite fragments are sparse or degraded. We explored whether Fourier-transform infrared (FTIR) microscopy can detect chitin-associa…
View article: Integrating social media into modern dermatology – a cross‐sectional study
Integrating social media into modern dermatology – a cross‐sectional study Open
Summary Background and objective Social media is increasingly establishing itself as an important source of information for skin health. Although demand among users is high, very few dermatologists outside the Anglo‐American region use the…
View article: Rare skin disease helps uncover mechanisms of acyl ceramide biosynthesis
Rare skin disease helps uncover mechanisms of acyl ceramide biosynthesis Open
View article: Systemic multi-omic remodelling underlies health benefits of intermittent fasting
Systemic multi-omic remodelling underlies health benefits of intermittent fasting Open
While intermittent fasting (IF) promotes longevity in animal models, its systemic effects in humans remain poorly understood. Here, we present a six-month longitudinal IF intervention in 114 women (BMI 25-35) with deep clinical, molecular,…
View article: Multi-modal atlas of lifestyle interventions reveals malleability of ageing-linked molecular features
Multi-modal atlas of lifestyle interventions reveals malleability of ageing-linked molecular features Open
Summary Extending human healthspan requires understanding how lifestyle interventions impact molecular systems across tissues and time. Here, we present the TirolGESUND Lifestyle Atlas (ClinicalTrials.gov: NCT05678426 ), a longitudinal, mu…
View article: The Hidden Socioeconomic Toll of Severe Hidradenitis Suppurativa
The Hidden Socioeconomic Toll of Severe Hidradenitis Suppurativa Open
View article: Genomic profiling in hidradenitis suppurativa: InterOmics pipeline for DNA-RNA sequencing highlights HLA variants, keratin-associated mutations and extracellular matrix alterations as contributing factors to HS pathogenesis
Genomic profiling in hidradenitis suppurativa: InterOmics pipeline for DNA-RNA sequencing highlights HLA variants, keratin-associated mutations and extracellular matrix alterations as contributing factors to HS pathogenesis Open
Hidradenitis suppurativa (HS) is a chronic autoinflammatory skin disorder with a complex genetic and molecular basis. To advance its characterization, we applied InterOmics, a novel bioinformatics pipeline integrating whole exome sequencin…
View article: Neue Nomenklatur und Einteilung der Ichthyosen und Keratoderme
Neue Nomenklatur und Einteilung der Ichthyosen und Keratoderme Open
View article: Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy Open
Epidermal differentiation disorders (EDDs) encompass inherited conditions characterized by abnormal epidermal differentiation, including nonsyndromic and syndromic subtypes with more extensive cutaneous involvement or palmoplantar keratode…
View article: Blocking of IL‐4/IL‐13 Signalling With Dupilumab Results in Restoration of Serum and Cutaneous Abnormalities in Netherton Syndrome
Blocking of IL‐4/IL‐13 Signalling With Dupilumab Results in Restoration of Serum and Cutaneous Abnormalities in Netherton Syndrome Open
Netherton syndrome (NS) is a rare ichthyosis caused by SPINK5‐ null mutations, resulting in erythroderma, ichthyosis linearis circumflexa, and atopic diathesis. Elevated serum IgE levels and activation of the KLK5‐PAR2‐TSLP axis suggest in…
View article: Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy Open
Since the 2010 classification of ichthyoses, our understanding of hereditary epidermal differentiation disorders (EDDs) has markedly increased, allowing for consideration of new therapeutic targets based on disease pathogenesis. A new gene…
View article: Management of congenital ichthyoses: guidelines of care: Part one: 2024 update
Management of congenital ichthyoses: guidelines of care: Part one: 2024 update Open
In 2019, a group of experts published the first European guidelines for the management of congenital ichthyoses after a multidisciplinary expert meeting held in 2016. An update of these guidelines and literature search was planned every 5 …
View article: Flare-ups: New Insights into the Burden of Pain in Hidradenitis Suppurativa
Flare-ups: New Insights into the Burden of Pain in Hidradenitis Suppurativa Open
View article: DNA Methylation Array Analysis Identifies Biological Subgroups of Cutaneous Melanoma and Reveals Extensive Differences with Benign Melanocytic Nevi
DNA Methylation Array Analysis Identifies Biological Subgroups of Cutaneous Melanoma and Reveals Extensive Differences with Benign Melanocytic Nevi Open
Background/Objectives: Genetics and epigenetics play an important role in the pathogenesis of cutaneous melanoma. The majority of cases harbor mutations in genes associated with the MAPK signaling pathway, i.e., BRAF, NRAS, or NF1. The rem…
View article: Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy
Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy Open
More than 50 palmoplantar epidermal differentiation disorders (pEDDs) have been reported in the literature. Various descriptors have been used to name these conditions, including clinical features often designated as acronyms or evocative …
View article: Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa
Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa Open
View article: Schuppende Maculae und Papeln an den Extremitäten und ein therapeutischer Ansatz
Schuppende Maculae und Papeln an den Extremitäten und ein therapeutischer Ansatz Open
View article: Langerhans cells orchestrate apoptosis of DNA‐damaged keratinocytes upon high‐dose UVB skin exposure
Langerhans cells orchestrate apoptosis of DNA‐damaged keratinocytes upon high‐dose UVB skin exposure Open
Ultraviolet (UV) irradiation of the skin causes mutations that can promote the development of melanoma and nonmelanoma skin cancer. High‐dose UVB exposure triggers a vigorous skin reaction characterized by inflammation resulting in acute s…
View article: Development of a Cellular Assay as a Personalized Model for Testing Chronic Wound Therapeutics
Development of a Cellular Assay as a Personalized Model for Testing Chronic Wound Therapeutics Open
View article: Elimination of damaged mitochondria during UVB‐induced senescence is orchestrated by NIX‐dependent mitophagy
Elimination of damaged mitochondria during UVB‐induced senescence is orchestrated by NIX‐dependent mitophagy Open
Skin aging is the result of two types of aging, “intrinsic aging” an inevitable consequence of physiologic and genetically determined changes and “extrinsic aging,” which is dependent on external factors such as exposure to sunlight, smoki…
View article: Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosaik: ein Bericht über zwei Familien
Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosaik: ein Bericht über zwei Familien Open
View article: Gonadal and gonadosomatic mosaicism in NF1: report of two families
Gonadal and gonadosomatic mosaicism in NF1: report of two families Open
Dear Editors, Neurofibromatosis type I (NF1) caused by pathogenic variants (PVs) in NF1, is a progressive condition characterized by multiple cafe-au-lait macules (CALMs), skinfold freckling, Lisch nodules, cutaneous, subcutaneous or plexi…
View article: Entwicklung der Patientencharakteristika und der Wirksamkeit der Biologika‐Therapie bei Patienten des Österreichischen Psoriasis‐Registers von 2004 bis 2022
Entwicklung der Patientencharakteristika und der Wirksamkeit der Biologika‐Therapie bei Patienten des Österreichischen Psoriasis‐Registers von 2004 bis 2022 Open
Zusammenfassung Hintergrund und Ziele In dieser Studie wurde untersucht, inwieweit die Einführung wirksamerer Medikamente in jüngster Zeit zu einer Verbesserung der Behandlungsergebnisse von Psoriasis‐Patienten im klinischen Alltag geführt…
View article: 236 Disrupted keratinocyte differentiation and increased chemokine and antimicrobial peptide expression in palmoplantar keratoderma due to keratin 9 mutation
236 Disrupted keratinocyte differentiation and increased chemokine and antimicrobial peptide expression in palmoplantar keratoderma due to keratin 9 mutation Open
View article: Evolution of characteristics and biologic treatment effectiveness in patients of the Austrian psoriasis registry from 2004–2022
Evolution of characteristics and biologic treatment effectiveness in patients of the Austrian psoriasis registry from 2004–2022 Open
Summary Background and Objectives This study analyzed the extent to which the recent introduction of more effective treatments has led to an improvement in real‐world psoriasis patients. Patients and Methods Patient characteristics and the…
View article: Filaggrin gene variants among Saudi patients with ichthyosis vulgaris
Filaggrin gene variants among Saudi patients with ichthyosis vulgaris Open
View article: Cross-Comparison of Inflammatory Skin Disease Transcriptomics Identifies PTEN as a Pathogenic Disease Classifier in Cutaneous Lupus Erythematosus
Cross-Comparison of Inflammatory Skin Disease Transcriptomics Identifies PTEN as a Pathogenic Disease Classifier in Cutaneous Lupus Erythematosus Open
Tissue transcriptomics is used to uncover molecular dysregulations underlying diseases. However, the majority of transcriptomics studies focus on single diseases with limited relevance for understanding the molecular relationship between d…
View article: Resection of Skin Cancer Resulting in Free Vascularized Tissue Reconstruction: Always a Therapeutic Failure?
Resection of Skin Cancer Resulting in Free Vascularized Tissue Reconstruction: Always a Therapeutic Failure? Open
The globally increasing incidence of cutaneous malignancies leads, in parallel, to increasing numbers of locally advanced skin cancer resulting in reconstructive surgery. Reasons for locally advanced skin cancer may be a patient’s neglect …
View article: Lokale Therapie von venösen Ulzera mit niedrig dosiertem rekombinantem, humanem „granulocyte-macrophage colony-stimulating factor“ (rhu GM-CSF), 10 Jahre Nachbeobachtung
Lokale Therapie von venösen Ulzera mit niedrig dosiertem rekombinantem, humanem „granulocyte-macrophage colony-stimulating factor“ (rhu GM-CSF), 10 Jahre Nachbeobachtung Open
Zusammenfassung Hintergrund Venöse Ulcera cruris treten in 1 % der Bevölkerung in industrialisierten Ländern auf. Ihre Behandlung ist schwierig und kostspielig. Eine komplette Abheilung zu erzielen ist langwierig, und die Rezidivrate ist h…
View article: Holistic health record for Hidradenitis suppurativa patients
Holistic health record for Hidradenitis suppurativa patients Open