Article
Genetics & Heredity
Christina Guttmann-Gruber, Josefina Pinon Hofbauer, Birgit Tockner, Victoria Reichl, Alfred Klausegger, Peter Hofbauer, Martin Wolkersdorfer, Khek-Chian Tham, Seong Soo Lim, John E. Common, Anja Diem, Katharina Ude-Schoder, Wolfgang Hitzl, Florian Lagler, Julia Reichelt, Johann W. Bauer, Roland Lang, Martin Laimer
Summary: In this study, the efficacy and safety of low-dose calcipotriol, a vitamin D3 analogue, in promoting wound healing and reducing itch and pain in patients with dystrophic epidermolysis bullosa (DEB) were evaluated. The results showed that topical treatment with low-dose calcipotriol can accelerate wound closure and significantly reduce itch, making it a safe and readily-available option to improve local wound care in DEB patients.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Cell & Tissue Engineering
Kathrin Dieter, Elke Niebergall-Roth, Cristina Daniele, Silvia Fluhr, Natasha Y. Frank, Christoph Ganss, Dimitra Kiritsi, John A. McGrath, Jakub Tolar, Markus H. Frank, Mark A. Kluth
Summary: Recent analysis of an international clinical trial suggests that treatment with ABCB5+ MSCs may facilitate wound closure and reduce the development of new wounds in patients with RDEB, a rare skin fragility disorder. The findings highlight the potential therapeutic efficacy of ABCB5+ MSCs in improving overall wound healing in RDEB patients.
Review
Dermatology
Ken Natsuga, Satoru Shinkuma, Chao-Kai Hsu, Yasuyuki Fujita, Akira Ishiko, Katsuto Tamai, John A. McGrath
Summary: Epidermolysis bullosa (EB) is a group of inherited disorders caused by mutations in genes encoding basement membrane zone (BMZ) components or proteins maintaining the integrity of BMZ and adjacent keratinocytes. Research on blister wound healing in EB and advancements in gene therapy, read-through therapy, and cell therapy offer optimism for improved clinical management of EB patients. Progress in understanding disease mechanisms using human skin samples, animal models, and cultured cells is leading to the development of more effective therapeutics.
JOURNAL OF DERMATOLOGICAL SCIENCE
(2021)
Article
Dermatology
Karen Snelson, Annette Downe
Summary: In recent years, the use of topical morphine gel has increased in palliative care to reduce pain in chronic wounds and fungating tumours, but there is limited evidence supporting its effectiveness. This study aims to demonstrate the efficacy of topical morphine gel in various types of EB wounds and the reported reduction in pain by patients through case studies.
INTERNATIONAL WOUND JOURNAL
(2023)
Article
Materials Science, Textiles
Ngan Yi Kitty Lam, Xue Luo, Li Li
Summary: By interviewing EB patients, children with EB, and their parents, this study systematically investigated the needs for functional apparel that alleviates the symptoms of EB, and found that the proposed apparel system not only meets the needs of EB patients, but also other patients with skin diseases.
JOURNAL OF THE TEXTILE INSTITUTE
(2022)
Article
Immunology
Stefan Tukaj, Jagoda Mantej, Krzysztof Sitko, Detlef Zillikens, Ralf J. Ludwig, Katja Bieber, Michael Kasperkiewicz
Summary: Stress-induced heat shock protein 70 (Hsp70) plays a crucial role in autoimmune processes, with highly immunogenic extracellular Hsp70 activating immune responses and contributing to the development of inflammatory/autoimmune disorders. Anti-Hsp70 autoantibodies are significantly increased in patients with epidermolysis bullosa acquisita (EBA), an autoimmune blistering skin disease, and are positively correlated with pro-inflammatory interferon gamma (IFN-γ) levels. These autoantibodies promote EBA development by enhancing neutrophil infiltration and activating the NF-κB signaling pathway in an IFN-γ-associated manner.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Fuying Chen, Yifeng Guo, Kaili Zhou, Dan Deng, Wanbo Yue, Weiqin Yang, Beibei Zhang, Yue Li, Jianying Liang, Ming Li, Zhirong Yao
Summary: Patients with recessive dystrophic epidermolysis bullosa (RDEB) and elevated IgE levels, especially those with intense pruritus, showed significant clinical improvement with anti-IgE therapy, including enhanced wound healing, reduction in disease severity, and amelioration of skin inflammation. IgE may play a potential role in the pathogenesis of inflammatory conditions associated with RDEB, as indicated by this study.
Article
Dermatology
T. Welponer, D. D. Weber, L. Trattner, B. Tockner, S. Aminzadeh-Gohari, V. Leb-Reichl, A. Kaufmann, R. Zauner, M. Wimmer, V. Wally, T. K. Felder, D. Strunk, U. Koller, J. W. Bauer, B. Kofler, C. Guttmann-Gruber, J. Pinon Hofbauer
Summary: The study aimed to determine the feasibility of targeting tumor cell energetics as a strategy to hinder the growth advantage of aggressive cSCCs. The findings suggest that metformin has anti-neoplastic properties in high-risk aggressive cSCCs by interfering with cellular respiration and glycolysis.
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Nadezhda A. Evtushenko, Arkadii K. Beilin, Anastasiya Kosykh, Ekaterina A. Vorotelyak, Nadya G. Gurskaya
Summary: Epidermolysis bullosa simplex (EBS) is a group of genetic diseases caused by mutations in keratins, leading to changes in cellular pathology such as fragility of the intermediate filament network and basal layer cytolysis. Mutations in keratins can affect cellular signaling, cause abnormal cell migration, and trigger inflammatory responses.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Dermatology
Leonie Huitema, Taylor Phillips, Vitali Alexeev, Olga Igoucheva
Summary: Hereditary epidermolysis bullosa is a mechanobullous skin fragility disorder characterized by skin blistering under mechanical stress, with no cure currently available. Recent data suggest systemic immunological defects in patients, particularly affecting antibacterial immunity.
EXPERIMENTAL DERMATOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Grace Tartaglia, Qingqing Cao, Zachary M. Padron, Andrew P. South
Summary: RDEB is a devastating skin blistering disease caused by mutations in the C7 gene, leading to rapid fibrosis development, chronic wounds, and squamous cell carcinoma. It serves as a model for understanding the molecular basis of fibrosis and rapidly developing aggressive cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Dermatology
Vitali Alexeev, Leonie Huitema, Taylor Phillips, Rodrigo Cepeda, Diego de los Cobos, Regina Isabella Matus Perez, Mauricio Salas-Garza, Oscar R. Fajardo-Ramirez, Franziska Ringpfeil, Jouni Uitto, Julio Cesar Salas-Alanis, Olga Igoucheva
Summary: This study found that RDEB wounds and epithelial cells are frequently infected with Staphylococcus sp. and Pseudomonas sp. RDEB wound-associated T cells contain CD4(+) and CD8(+) peripheral memory T cells that respond to microbial antigens, and CD8(+) cytotoxic T lymphocytes can recognize and kill infected cells. However, in RDEB, immune suppression mediated by PD-1/Treg may inhibit adaptive T cell-mediated immunity.
EXPERIMENTAL DERMATOLOGY
(2022)
Article
Medicine, General & Internal
Manuel Murciano, Claudia Laterza, Ettore Attolini, Sonia Storelli, Giovanni Dipietro, Antonio Rubino, Giuseppina Annicchiarico
Summary: This case report describes the use of inhaled nitrous oxide (N2O) for procedural pain control at home during wound care in a young man with severe dystrophic EB. N2O analgesia is safe and effective, resulting in a significant reduction in procedural pain and an improvement in the quality of life of patients and their caregivers.
Article
Dermatology
Courtney M. Popp, William C. Miller, Cindy R. Eide, Jakub Tolar
Summary: Three-dimensional bioprinting has the potential to revolutionize the treatment of skin wounds, especially for rare conditions like RDEB. Despite its therapeutic promise, there are technical challenges that need to be overcome before widespread implementation in clinical practice.
EXPERIMENTAL DERMATOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Ji Young Kim, Eun Jung Lee, Jimyung Seo, Yangsin Lee, Yuri Ahn, Sujin Park, Yu Jeong Bae, Jinu Lee, Beom Jin Lim, Doyoung Kim, Jin Won Cho, Sang Ho Oh
Summary: Using various techniques, this study confirmed the expression of nephrin in human skin epidermal keratinocytes and found that it is closely related to cell adhesion, proliferation, and migration. These findings suggest that nephrin may have multiple physiological roles in human skin.
Article
Ophthalmology
Christian Platzl, Alexandra Kaser-Eichberger, Heidi Wolfmeier, Andrea Trost, Falk Schroedl
Summary: In this study, the presence of intrinsic choroidal neurons (ICN) in the choroid tissue was confirmed, but their function in ocular control remains unknown. The researchers found that increased pressure on isolated choroids did not trigger ICN responses via the investigated markers. Further studies are needed to investigate alternative markers and stimuli to unravel the function of ICN.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Allergy
Z. K. Jabbar-Lopez, B. Ezzamouri, A. Briley, D. Greenblatt, N. Gurung, J. R. Chalmers, K. S. Thomas, T. Frost, S. Kezic, J. E. A. Common, S. Danby, M. J. Cork, J. L. Peacock, C. Flohr
Summary: This study evaluated the feasibility of installing a domestic ion-exchange water softener before birth in hard water areas to reduce the risk of eczema in infants with a family history of atopy. Among 78 randomized families, 15% dropped out by 6 months postpartum; 40% of infants in the water softener arm developed visible eczema at 6 months.
CLINICAL AND EXPERIMENTAL ALLERGY
(2022)
Editorial Material
Dermatology
Kahbing Jasmine Tan, Satoshi Nakamizo, Hyeon-Cheol Lee-Okada, Reiko Sato, Zachary Chow, Saeko Nakajima, John E. A. Common, Kazuko Saeki, Takehiko Yokomizo, Florent Ginhoux, Kenji Kabashima
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Review
Allergy
Li Fang Koh, Ruo Yan Ong, John E. Common
Summary: The skin microbiome plays a crucial role in the development of atopic dermatitis (AD). AD patients have an imbalanced skin microbiome with reduced microbial diversity and an overgrowth of pathogenic Staphylococcus aureus (S. aureus). Recent studies have highlighted the importance of establishing a proper immune response to microbes early in life and have uncovered new mechanisms of microbial community dynamics in modulating the skin microbiome. Several microbes, including S. aureus and Malassezia, are associated with AD pathogenesis. The complex relationships within the skin microbiome consortia involve various species such as Staphylococcal, Roseomonas, and Cutibacterium strains, which can inhibit S. aureus and have the potential to be probiotics for AD skin. Additionally, numerous microbes have been found to modulate the host response, improving the health and barrier function of the skin through communication with keratinocytes, specialized immune cells, and adipocytes. This increased understanding of the bioactives of skin microbiota has led to new biotherapeutic approaches targeting the skin microenvironment for AD treatment.
ALLERGOLOGY INTERNATIONAL
(2022)
Article
Ophthalmology
Alexandra Kaser-Eichberger, Christian Platzl, Heidi Wolfmeier, Andrea Trost, Anja Horn, Miriam Barnerssoi, Clemens Strohmaier, Falk Schroedl
Summary: The presence of urocortin-1 (UCN), a neuroregulatory peptide, in the human choroid and its possible origin in intrinsic choroidal neurons (ICN) and eye-related cranial ganglia (superior cervical ganglion-SCG, ciliary ganglion-CIL, pterygopalatine ganglion-PPG, trigeminal ganglion-TRI) was investigated. The results suggest that UCN is part of the choroidal innervation and may originate from ICN, PPG, or CIL. Further studies are needed to determine the function of UCN in choroidal autonomic control.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Allergy
Carol Ni Chaoimh, Dhanis Lad, Claudio Nico, Gerwin J. Puppels, X. F. Colin C. Wong, John E. Common, Deirdre M. Murray, Alan D. Irvine, Jonathan O'Brien Hourihane
Summary: This study has shown that early initiation of daily specialized emollient use can reduce the incidence of atopic dermatitis in high-risk infants during their first year of life.
Article
Medicine, General & Internal
Igor Petkovic, Johannes Bischof, Thomas Kocher, Oliver Patrick March, Bernadette Liemberger, Stefan Hainzl, Dirk Strunk, Anna Maria Raninger, Heide-Marie Binder, Julia Reichelt, Christina Guttmann-Gruber, Verena Wally, Josefina Pinon Hofbauer, Johann Wolfgang Bauer, Ulrich Koller
Summary: In this study, researchers used CRISPR/Cas9 gene editing technique to successfully correct a causal pathogenic frameshift mutation in the COL17A1 gene, which leads to junctional epidermolysis bullosa. By inducing both end-joining repair and HDR-mediated pathways, they achieved efficient gene repair and observed improved cellular functions and structures in the corrected cells.
FRONTIERS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Martin Textor, Arnd Hoburg, Rex Lehnigk, Carsten Perka, Georg N. N. Duda, Simon Reinke, Antje Blankenstein, Sarah Hochmann, Andreas Stockinger, Herbert Resch, Martin Wolf, Dirk Strunk, Sven Geissler
Summary: This study found that loose bodies (LBs) from patients with osteochondritis dissecans (OCD) contain sufficient viable and functional chondrocytes that can be used for autologous chondrocyte implantation (ACI) without affecting their phenotype during prolonged in vitro expansion. The chondrocyte populations from LBs (LB-CH) showed no significant differences in cell yield per isolation and expression of chondrocyte progenitor cell markers compared to control chondrocytes from non-weight-bearing joint regions. LB-CH exhibited comparable viability, proliferation rates, and chondrogenic differentiation potential to control chondrocytes, and had a higher ability to form a hyaline cartilage matrix compared to bone marrow mesenchymal stromal cells (BMSCs).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Cell Biology
Andreas Koller, Susanne Maria Brunner, Julia Preishuber-Pfluegl, Christian Runge, Anja-Maria Ladek, Herbert Anton Reitsamer, Andrea Trost
Summary: The study demonstrates that CysLTR1 inhibition by Zafirlukast affects the endosomal-lysosomal system, reduces lysosomal content, and inhibits endocytic function, thereby regulating cell homeostasis and autophagy. Additionally, CysLTR1 is involved in the endocytic regulation of serum components, which modulates autophagy activity.
Article
Biology
Cornelia Scharler, Rodolphe Poupardin, Patricia Ebner-Peking, Martin Wolf, Christina Schreck, Gabriele Brachtl, Andre Cronemberger Andrade, Linda Krisch, Laurence Daheron, Katharina Schallmoser, Karsten Juerchott, Judit Kuchler, Harald Stachelscheid, Hans-Dieter Volk, Robert A. J. Oostendorp, Dirk Strunk
Summary: The guanine exchange factor DOCK2 plays an important role in regulating the development of immunomodulatory function in human stromal cells. Patients with DOCK2 mutations show reduced immunomodulatory capacity. Transcriptomic and methylomic studies reveal time-dependent gene expression trajectories, including DOCK2, in stromal cells. Knockdown of DOCK2 gene significantly reduces immunomodulatory capacity. G protein signaling is identified as a key element in stromal cell immunomodulation.
COMMUNICATIONS BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Janine Zwicklhuber, Thomas Kocher, Bernadette Liemberger, Stefan Hainzl, Johannes Bischof, Dirk Strunk, Anna M. Raninger, Iris Gratz, Verena Wally, Christina Guttmann-Gruber, Josefina Pinon Hofbauer, Johann W. Bauer, Ulrich Koller
Summary: In this study, a cell line suitable for gene expression studies of the JEB-associated COL17A1 gene was developed using the CRISPR/Cas9 system. The accurate expression and localization of the GFP-C17 fusion protein were confirmed. Repairing a JEB-associated frameshift mutation restored the expression and localization of the fusion protein. This fluorescence-based JEB cell line has the potential to be used for personalized gene editing and applications in vitro and in animal models in vivo.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Susanne M. Brunner, Andrea Ramspacher, Caroline Rieser, Julia Leitner, Hannah Heil, Michael Ablinger, Julia Tevini, Monika Wimmer, Andreas Koller, Josefina Pinon Hofbauer, Thomas K. Felder, Johann W. Bauer, Barbara Kofler, Roland Lang, Verena Wally
Summary: This study aimed to evaluate the effects of topical diacerein on IMQ-induced psoriasis in mice. The results showed that diacerein significantly alleviated psoriasiform-like skin inflammation and reduced psoriasis-associated splenomegaly. The treatment also resulted in a decreased infiltration of CD11c(+) dendritic cells into the skin and spleen.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Roland Zauner, Monika Wimmer, Sabine Atzmueller, Johannes Proell, Norbert Niklas, Michael Ablinger, Manuela Reisenberger, Thomas Lettner, Julia Illmer, Sonja Dorfer, Ulrich Koller, Christina Guttmann-Gruber, Josefina Pinon Hofbauer, Johann W. Bauer, Verena Wally
Summary: Our study aimed to use machine learning to identify short RNA molecules that can detect tumors in RDEB patients. We included data from patients with similar RNA profiles to overcome the limitation of limited RDEB patient numbers. By analyzing the similarity in RNA expression, we identified a set of short RNAs that can distinguish between tumor and healthy cells. This approach has the potential to improve early detection of RDEB-SCCs.
