Search our Database of Scientific Publications and Authors

I’m looking for a

    5638 results match your criteria Epidermolysis Bullosa

    1 OF 113

    Human antibody responses against non-covalently cell wall-bound Staphylococcus aureus proteins.
    Sci Rep 2018 Feb 19;8(1):3234. Epub 2018 Feb 19.
    Department of Medical Microbiology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.
    Human antibody responses to pathogens, like Staphylococcus aureus, are important indicators for in vivo expression and immunogenicity of particular bacterial components. Accordingly, comparing the antibody responses to S. aureus components may serve to predict their potential applicability as antigens for vaccination. Read More

    Epidermolysis bullosa acquisita.
    Dermatol Online J 2017 Dec 15;23(12). Epub 2017 Dec 15.
    New York University, New York.
    Epidermolysis bullosa acquisita (EBA) is a rare, acquired subepidermal blistering disease. EBA is characterized by autoantibodies to collagen VII,which serves to link the epidermis to the dermis. The two most common presentations of EBA are classical noninflammatory EBA and bullous pemphigoid-like EBA. Read More

    Flame figures in linear IgA bullous dermatosis: a novel histopathologic finding.
    Dermatol Online J 2017 Nov 15;23(11). Epub 2017 Nov 15.
    Beth Israel Deaconess Medical Center, Department of Pathology, Harvard Medical School, Boston, Massachusetts.
    Background: Linear IgA bullous dermatosis (LABD) is an autoimmune subepidermal blistering disease usually with a neutrophil rich inflammatory infiltrate, and characterized by linear IgA deposition at the basement membrane zone (BMZ), and neutrophil predominant dermal inflammation. We report a case of LABD with numerous eosinophils and flame figure formation, a unique histopathologic finding not previously reported. A 69-year-old woman presented with a rapidly progressive, intensely pruritic rash over forearms, breasts, axillae, hips, and thighs. Read More

    Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosa.
    Eur Cell Mater 2018 Feb 14;35:73-86. Epub 2018 Feb 14.
    Cancer Research Centre, Université Laval, Quebec City, Quebec, G1R 3S3, Canada.Manuel.Caruso@ crchudequebec.ulaval.ca.
    The combination of gene therapy and tissue engineering is one of the most promising strategies for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). RDEB is a rare genetic disease characterised by mutations in the COL7A1 gene, encoding type VII collagen (COLVII), which forms anchoring fibrils at the dermal-epidermal junction of the skin. This disease causes severe blistering and only palliative treatments are offered. Read More

    First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.
    Clin Exp Dermatol 2018 Feb 9. Epub 2018 Feb 9.
    Basic Sciences Department, Medicine School, Universidad de Monterrey, Ignacio Morones Prieto 4500 Pte. Jesús M. Garza, 66238, San Pedro Garza García, NL, Mexico.

    Diacerein Orphan Drug Development for Epidermolysis Bullosa Simplex: A Phase 2/3 Randomized, Placebo-Controlled, Double-Blind Clinical Trial.
    J Am Acad Dermatol 2018 Feb 1. Epub 2018 Feb 1.
    Dept. of Dermatology, University Hospital Salzburg, Paracelsus Medical University Salzburg, Austria.
    Background: EBS is a rare genetic, blistering skin disease for which there is no cure. Treatments that address the pathophysiology of EBS are needed.

    Objective: Compare the impact of 1% diacerein cream vs placebo in reducing blister number in EBS. Read More

    Polymicrobial infections: do bacteria behave differently depending on their neighbours?
    Virulence 2018 Feb 6. Epub 2018 Feb 6.
    a Laboratory of Microbial Pathogenesis , Navarrabiomed, Universidad Pública de Navarra (UPNA), Complejo Hospitalario de Navarra (CHN), IdiSNA , Irunlarrea 3. Pamplona - 31008 , Navarra , Spain.
    Despite the number of examples that correlate interspecies interactions in polymicrobial infections with variations in pathogenicity and antibiotic susceptibility of individual organisms, antibiotic therapies are selected to target the most relevant pathogen, with no consideration of the consequences that the presence of other bacterial species may have in the pathogenicity and response to antimicrobial agents. In this issue of Virulence, Garcia-Perez et al. 10 applied replica plating of used wound dressings to assess the topography of distinct S. Read More

    Hereditary palmoplantar keratodermas. Part II. Syndromic palmoplantar keratodermas. Diagnostic algorithm and principles of therapy.
    J Eur Acad Dermatol Venereol 2018 Feb 3. Epub 2018 Feb 3.
    Genetic and Rare Diseases Research Area and Dermatology Unit, Bambino Gesù Children's Hospital-IRCCS, piazza Sant', Onofrio 4, 00165 Rome, Italy.
    Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development. Read More

    Treatment of Autoimmune Bullous Disorders in Pregnancy.
    Am J Clin Dermatol 2018 Feb 2. Epub 2018 Feb 2.
    Corporal Michael J. Crescenz VAMC, Philadelphia, PA, USA.
    Autoimmune bullous diseases (AIBD), including pemphigus, bullous pemphigoid, epidermolysis bullosa acquisita, mucous membrane pemphigoid, and pemphigoid gestationis, pose significant therapeutic challenges, especially in pregnant and post-partum breastfeeding patients or those planning to conceive. Data on the safety and efficacy of therapeutic interventions during the perinatal period are lacking because randomized controlled trials are typically not performed in this setting. However, many of the treatments for AIBD are also used in other diseases, so data can be extrapolated from studies or case reports in these other patient populations. Read More

    Injury- and inflammation-driven skin fibrosis: The paradigm of epidermolysis bullosa.
    Matrix Biol 2018 Jan 31. Epub 2018 Jan 31.
    Department of Dermatology, Medical Faculty, Medical Center - University of Freiburg, Freiburg, Germany.
    Genetic or acquired destabilization of the dermal extracellular matrix evokes injury- and inflammation-driven progressive soft tissue fibrosis. Dystrophic epidermolysis bullosa (DEB), a heritable human skin fragility disorder, is a paradigmatic disease to investigate these processes. Studies of DEB have generated abundant new information on cellular and molecular mechanisms at play in skin fibrosis which are not only limited to intractable diseases, but also applicable to some of the most common acquired conditions. Read More

    EB2017 - Progress in Epidermolysis Bullosa Research Towards Treatment and Cure.
    J Invest Dermatol 2018 Jan 29. Epub 2018 Jan 29.
    DEBRA International, Vienna, Austria.
    Epidermolysis bullosa (EB), a group of heritable blistering disorders, demonstrates extensive phenotypic variability due to mutations in as many as 20 distinct genes. There is no cure for this devastating group of disorders, however, a number of preclinical developments show promise, and some approaches have already reached the stage of early clinical trials. Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International, a global coalition of national patient organizations advocating on behalf of the patients and families with EB, supports research and organizes periodic scientific and clinical meetings on this disease. Read More

    Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations.
    Cornea 2018 Jan 30. Epub 2018 Jan 30.
    Cornea Department, Fundación Oftalmológica Los Andes, Santiago, Chile.
    Purpose: This study describes ophthalmologic and systemic clinical findings in different subtypes of epidermolysis bullosa (EB) establishing genotype-phenotype correlations.

    Methods: A cross-sectional study was conducted in 58 patients with EB together with the Dystrophic Epidermolysis Bullosa Research Association, Chile. Data were stratified by major subtypes such as "simplex epidermolysis bullosa" (EBS), "junctional epidermolysis bullosa" (JEB), "recessive and dominant dystrophic epidermolysis bullosa" and "dominant dystrophic epidermolysis bullosa" (DDEB), and "Kindler syndrome" (KS). Read More

    Staphylococcal scalded skin syndrome in a 4-year-old child: a case report.
    J Med Case Rep 2018 Jan 29;12(1):20. Epub 2018 Jan 29.
    Department of Surgery, Burns unit, Rode Kruis Hospital, Beverwijk, Vondellaan 13, 1942LE, Beverwijk, The Netherlands.
    Background: Staphylococcal scalded skin syndrome is an exfoliating skin disease which primarily affects children. Differential diagnosis includes toxic epidermal necrolysis, staphylococcal scalded skin syndrome, epidermolysis bullosa, and Stevens-Johnson syndrome. Staphylococcal scalded skin syndrome primarily affects children and can cause serious morbidity. Read More

    Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
    Exp Dermatol 2018 Jan 24. Epub 2018 Jan 24.
    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
    Autozygosity mapping (AM) is a technique utilised for mapping homozygous autosomal recessive (AR) traits and facilitation of genetic diagnosis. We investigated the utility of AM for the molecular diagnosis of heterogeneous AR disorders, using epidermolysis bullosa (EB) as a paradigm. We applied this technique to a cohort of 46 distinct EB families using both short tandem repeat (STR) and genome-wide single nucleotide polymorphism (SNP) array-based AM to guide targeted Sanger sequencing of EB candidate genes. Read More

    A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.
    BMC Dermatol 2018 Jan 20;18(1). Epub 2018 Jan 20.
    Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPER, Av. D. Manuel I, 9500-370, Ponta Delgada, São Miguel Island, Azores, Portugal.
    Background: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing. Read More

    Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita.
    J Dermatol 2018 Jan 20. Epub 2018 Jan 20.
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
    Type VII collagen (COL7), a major component of anchoring fibrils in the epidermal basement membrane zone, has been characterized as a defective protein in dystrophic epidermolysis bullosa and as an autoantigen in epidermolysis bullosa acquisita. Although COL7 is produced and secreted by both epidermal keratinocytes and dermal fibroblasts, the role of COL7 with regard to the epidermis is rarely discussed. This review focuses on COL7 physiology and pathology as it pertains to epidermal keratinocytes. Read More

    Reliability and Validity of iscorEB (Instrument for Scoring Clinical Outcomes of Research for Epidermolysis Bullosa).
    Br J Dermatol 2018 Jan 17. Epub 2018 Jan 17.
    Section of Dermatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.
    Background: Epidermolysis bullosa (EB) is a group of rare and currently incurable genetic blistering disorders. As more pathogenic driven therapies are being developed, the need for EB-specific validated outcomes measures designed for use in clinical trials is becoming important.

    Objectives: We previously reported on development of an instrument for scoring clinical outcomes of research for Epidermolysis Bullosa (iscorEB), a new combined clinician and patient reported outcomes tool. Read More

    A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
    Pediatr Dermatol 2018 Jan 15. Epub 2018 Jan 15.
    Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA.
    Background: Historically, diagnosis of epidermolysis bullosa has required skin biopsies for electron microscopy, direct immunofluorescence to determine which gene(s) to choose for genetic testing, or both.

    Methods: To avoid these invasive tests, we developed a high-throughput next-generation sequencing (NGS)-based diagnostic assay called EBSEQ that allows simultaneous detection of mutations in 21 genes with known roles in epidermolysis bullosa pathogenicity. Mutations are confirmed with traditional Sanger sequencing. Read More

    Bullosis Diabeticorum: A Rare Presentation with Immunoglobulin G (IgG) Deposition Related Vasculopathy. Case Report and Focused Review.
    Am J Case Rep 2018 Jan 15;19:52-56. Epub 2018 Jan 15.
    Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA.
    BACKGROUND Bullosis diabeticorum (BD) is a condition characterized by recurrent, spontaneous, and non-inflammatory blistering in patients with poorly controlled diabetes mellitus. While etiopathogenesis remains unclear, roles of neuropathy, vasculopathy and UV light are hypothesized. Most literature reports negative direct and indirect immunofluorescence findings in diabetics with bullous eruptions. Read More

    Cultured allogeneic fibroblast injection versus fibroblasts cultured on amniotic membrane scaffold for dystrophic epidermolysis bullosa treatment.
    Br J Dermatol 2018 Jan 12. Epub 2018 Jan 12.
    School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Background: Different methods of fibroblast application have been examined to treat recessive dystrophic epidermolysis bullosa (RDEB).

    Objective: To compare the effects of intradermal injection of cultured allogeneic fibroblasts in healing RDEB wounds with that of fibroblasts seeded on amniotic membrane scaffolds (FAMS) or standard wound care (SWC) with Vaseline gauze as controls.

    Materials &methods: Seven patients were recruited, and seven wounds were assessed in each patient: three wounds were treated with injection of intradermal fibroblasts, three were treated with FAMS, and one was dressed with SWC. Read More

    Combinatorial omics analysis reveals perturbed lysosomal homeostasis in collagen VII-deficient keratinocytes.
    Mol Cell Proteomics 2018 Jan 11. Epub 2018 Jan 11.
    Dep. of Biology, University of Fribourg, Switzerland
    The extracellular matrix protein collagen VII is part of the microenvironment of stratified epithelia and critical in organismal homeostasis. Mutations in the encoding genelead to the skin disorder dystrophic epidermolysis bullosa (DEB), are linked to skin fragility and progressive inflammation-driven fibrosis that facilitates aggressive skin cancer. So far, these changes have been linked to mesenchymal alterations, the epithelial consequences of collagen VII loss remaining under-addressed. Read More

    Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa.
    Proc Natl Acad Sci U S A 2018 Jan 5;115(4):E705-E714. Epub 2018 Jan 5.
    Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, 79104 Freiburg, Germany.
    Genetic loss of collagen VII causes recessive dystrophic epidermolysis bullosa (RDEB), a skin fragility disorder that, unexpectedly, manifests also with elevated colonization of commensal bacteria and frequent wound infections. Here, we describe an unprecedented systemic function of collagen VII as a member of a unique innate immune-supporting multiprotein complex in spleen and lymph nodes. In this complex, collagen VII specifically binds and sequesters the innate immune activator cochlin in the lumen of lymphoid conduits. Read More

    The Skin(ny) on Regenerating the Largest Organ to Save a Patient's Life.
    Cell Stem Cell 2018 Jan;22(1):14-15
    Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, Colorado, USA. Electronic address:
    Stem cells hold enormous potential to regenerate an entire organ for organ replacement therapy. Recently, in Nature, Hirsch et al. (2017) restored the expression of laminin-332 in epidermal stem cells isolated from an individual with junctional epidermolysis bullosa and grafted the entire skin back to save the patient's life. Read More

    Health literacy in patients with epidermolysis bullosa in Iran.
    J Educ Health Promot 2017 4;6:105. Epub 2017 Dec 4.
    Department of Medical-Surgical Nursing, Fatemeh (PBUH) School of Nursing and Midwifery, Shiraz University of Medical Sciences, Shiraz, Iran.
    Introduction: Health literacy is a set of different skills, including reading, listening, analyzing, deciding, and applying these skills related to health status. Epidermolysis bullosa (EB) is a rare hereditary genetic disease which affects several aspects of the life of patients and their families. The aim of this study was to assess the health literacy of patients with EB in Iran. Read More


    Response to: 'Human orf complicated by epidermolysis acquisita'.
    Br J Dermatol 2017 Dec 26. Epub 2017 Dec 26.
    The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, New York.
    Dear editor, we read with great interest the article 'Human orf complicated by epidermolysis bullosa acquisita' by Zeulgaray and colleagues.Recently, a Moroccan patient who contracted orf (fig. 1a) after slaughtering a sheep during Eid Al-Adha was admitted to our hospital and developed a similar pruritic vesiculobullous eruption predominantly on the hands and forearms (fig. Read More

    IL-6/IL-10 Ratio as A Prognostic and Predictive Marker of the Severity of Inherited Epidermolysis Bullosa.
    Iran J Immunol 2017 Dec;14(4):340-349
    Clinical Pathology Laboratory, Polyclinic of Bari, Department of Biomedical Sciences and Human Oncology, University of Bari, Piazza Giulio Cesare 11, 70124 Bari, Italy.
    Background: Recent studies have shown that cytokines have an important role in the pathogenesis of inflammatory diseases and can be used as prognostic markers.

    Objective: To evaluate the IL-6/IL-10 ratio in patients with Inherited Epidermolysis Bullosa (EB) as a prognostic marker.

    Methods: Serum levels of IL-6 and IL-10 were measured in 13 patients with recessive dystrophic EB (RDEB) as well as 10 with EB Simplex (EBS), and in 18 healthy subjects. Read More

    Therapies for genetic extracellular matrix diseases of the skin.
    Matrix Biol 2017 Dec 21. Epub 2017 Dec 21.
    Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
    A specialized, highly developed dermal extracellular matrix (ECM) provides the skin with its unique mechano-resilient properties and is vital for organ function. Accordingly, genetically acquired deficiency of dermal ECM proteins or proteins essential for the post-translational modification and homeostasis of the dermal ECM, results in diseases affecting the skin. Some of these diseases are lethal or lead to severe complications for the affected individuals. Read More

    Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.
    Pediatr Dermatol 2017 Dec 22. Epub 2017 Dec 22.
    Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
    Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the COL7A1 gene. Different clinical variants have been described, with dominant and recessive inheritance, but no consistent findings have been elucidated to establish a genotype-phenotype correlation. We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene that developed different clinical forms of dystrophic epidermolysis bullosa-epidermolysis bullosa pruriginosa and mild recessive non-Hallopeau-Siemens-raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease. Read More

    Pretibial dystrophic epidermolysis bullosa.
    An Bras Dermatol 2017 ;92(5 Suppl 1):126-128
    Department of Dermatopathology of the Department of Anatomic Pathology, Santa Casa de Misericórdia de São Paulo - São Paulo (SP), Brazil.
    Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. In this group, there are autosomal dominant and recessive inheritances. Read More

    Acute renal failure in a patient with epidermolysis bullosa acquisita.
    An Bras Dermatol 2017 ;92(5 Suppl 1):14-16
    Department of Dermatology, Shandong Provincial Hospital for Skin Diseases, Shandong University, Shandong , China.
    Epidermolysis bullosa acquisita is a severe autoimmune subepidermal bullous disease. In this report, we described for the first time a patient with epidermolysis bullosa acquisita who developed acute renal failure. There is a possibility that epidermolysis bullosa acquisita and acute renal failure's pathogenesis shared some common autoimmune pathways. Read More

    The Conundrum of Allogeneic Bone Marrow Transplantation for Epidermolysis Bullosa.
    J Invest Dermatol 2017 Dec 16. Epub 2017 Dec 16.
    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA. Electronic address:
    Epidermolysis bullosa (EB) is a heterogeneous group of heritable blistering disorders with considerable morbidity and mortality. Currently, there is no effective treatment or cure for EB, but bone marrow transplantation (BMT) has been suggested to improve the clinical presentation and quality of life in some patients with the recessive dystrophic subtype of EB. In this issue, Hünefeld et al. Read More

    Spectrum of Autoimmune Bullous Diseases in Northern Greece. A 4-year Retrospective Study and Review of the Literature.
    Acta Dermatovenerol Croat 2017 Oct;25(3):195-201
    Foteini Lamprou, MD, MSc, PhD candidate, 2nd University Department of Dermatology Papageorgiou General Hospital Aristotle University of Thessaloniki, Ring Road, Municipality of Pavlos Melas, Area of N. Efkarpia, 56403 Thessaloniki, Greece;
    Bullous Diseases Unit at the 2nd Department of Dermatology and Venereology, Aristotle University of Thessaloniki was founded with the aim to provide the optimal diagnostic approach and treatment of patients with autoimmune bullous diseases (AΙBD). We processed all AIBD files of patients diagnosed from 2011 to 2014 in order to record all epidemiological data and therapeutic manipulations during monitoring. 57 patients were diagnosed with intraepidermal and 62 with subepidermal bullous diseases. Read More

    [What's new in dermatological research?]
    Ann Dermatol Venereol 2017 Dec;144 Suppl 4:IVS16-IVS22
    Institut des biomolécules Max-Mousseron, CNRS UMR5247, université Montpellier, 30029 Nîmes, Cedex 9, France; service de dermatologie, CHU Carémeau, place du Professeur-Robert-Debré, 30029 Nîmes, Cedex 9, France. Electronic address:
    This manuscript provides a selection of dermatological research manuscripts published from September 2016 to August 2017. It is not an exhaustive review but rather a selection of manuscripts susceptible to modify the dermatological practice or affording new pathophysiologic mechanisms and new therapeutic approaches. The following areas of interest are concerned: recognition of dermatological images by artificial intelligence, new concepts in atopic dermatitis, wound repair and hair growth cycle. Read More

    Functional therapies for cutaneous wound repair in epidermolysis bullosa.
    Adv Drug Deliv Rev 2017 Dec 15. Epub 2017 Dec 15.
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University, Salzburg, Austria. Electronic address:
    Chronic wounding as a result of recurrent skin blistering in the painful genetic skin disease epidermolysis bullosa, may lead to life-threatening infections, increased risk of tumor formation, and other serious medical complications. Therefore, epidermolysis bullosa patients have an urgent need for optimal wound care and tissue regeneration. Therapeutic strategies using gene-, protein-, and cell-therapies are being developed to improve clinical symptoms, and some of them have already been investigated in early clinical trials. Read More

    The Position of Targeted Next-generation Sequencing in Epidermo-lysis Bullosa Diagnosis.
    Acta Derm Venereol 2017 Dec 15. Epub 2017 Dec 15.
    Department of Dermatology, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Hauptstrasse 7, DE-79104 Freiburg, Germany,
    The precise classification of epidermolysis bullosa (EB) into 4 main types and more than 30 subtypes is based on the level of skin cleavage, as well as clinical and molecular features, and is crucial for early prognostication, case management, genetic counselling and prenatal or pre-implantation diagnosis. We report here the molecular pathology of 40 consecutive cases of suspected EB, which were investigated by immunofluorescence mapping (IFM) and/or by a targeted next-generation sequencing (NGS) multi-gene panel. IFM correctly established the EB subtype in 76% of cases, while the molecular pathology was completely elucidated in 90% of cases by the targeted NGS multi-gene panel. Read More

    From the wound to the bench: exoproteome interplay between wound-colonizing Staphylococcus aureus strains and co-existing bacteria.
    Virulence 2017 Dec 13:1-35. Epub 2017 Dec 13.
    a Department of Medical Microbiology , University of Groningen, University Medical Center Groningen , Hanzeplein 1, P.O. box 30001, 9700 RB Groningen , the Netherlands.
    Wound-colonizing microorganisms can form complex and dynamic polymicrobial communities where pathogens and commensals may co-exist, cooperate or compete with each other. The present study was aimed at identifying possible interactions between different bacteria isolated from the same chronic wound of a patient with the genetic blistering disease epidermolysis bullosa (EB). Specifically, this involved two different isolates of the human pathogen Staphylococcus aureus, and isolates of Bacillus thuringiensis and Klebsiella oxytoca. Read More

    Establishment of integration-free induced pluripotent stem cells from human recessive dystrophic epidermolysis bullosa keratinocytes.
    J Dermatol Sci 2017 Dec 1. Epub 2017 Dec 1.
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan. Electronic address:
    Background: Induced pluripotent stem cell (iPSC) technology enables patient-specific pluripotent stem cells to be derived from adult somatic cells without the use of an embryonic cell source. To date, recessive dystrophic epidermolysis bullosa (RDEB)-specific iPSCs have been generated from patients using integrating retroviral vectors. However, vector integration into the host genome can endanger the biosafety and differentiation propensities of iPSCs. Read More

    Pain in Patients with Dystrophic Epidermolysis Bullosa: Association with Anxiety and Depression.
    Psychiatry Investig 2017 Nov 7;14(6):746-753. Epub 2017 Nov 7.
    Dystrophic Epidermolysis Bullosa Research Association Mexico Foundation, Nuevo Leon, Mexico.
    Objective: We investigate the presence and the quality of pain in patients with dystrophic epidermolysis bullosa (DEB), and its correlation with the level of anxiety and depression.

    Methods: We collected data from 27 DEB patients and 26 healthy individuals. DEB patients and controls completed 1 scale for the quality of pain, and 1 scale for anxiety and depression. Read More

    Interaction of Complement Defence Collagens C1q and Mannose-Binding Lectin with BMP-1/Tolloid-like Proteinases.
    Sci Rep 2017 Dec 5;7(1):16958. Epub 2017 Dec 5.
    Univ. Grenoble Alpes, CNRS, CEA, IBS, F-38000, Grenoble, France.
    The defence collagens C1q and mannose-binding lectin (MBL) are immune recognition proteins that associate with the serine proteinases C1r/C1s and MBL-associated serine proteases (MASPs) to trigger activation of complement, a major innate immune system. Bone morphogenetic protein-1 (BMP-1)/tolloid-like proteinases (BTPs) are metalloproteinases with major roles in extracellular matrix assembly and growth factor signalling. Despite their different functions, C1r/C1s/MASPs and BTPs share structural similarities, including a specific CUB-EGF-CUB domain arrangement found only in these enzymes that mediates interactions with collagen-like proteins, suggesting a possible functional relationship. Read More

    [Epidermolysis bullosa].
    Ugeskr Laeger 2017 Nov;179(47)
    Epidermolysis bullosa (EB) is a rare genodermatosis. A new classification system is presented, distinguishing the subtypes of EB, and this system is based on the phenotype, mode of inheritance, ultrastructure, immunofluorescence findings, and specific mutation(s) present. EB is inherited in an autosomal dominant or -recessive fashion. Read More

    Case of epidermolysis bullosa acquisita with concomitant anti-laminin-332 antibodies.
    J Dermatol 2017 Dec 4. Epub 2017 Dec 4.
    Department of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
    Subepidermal autoimmune blistering disease including bullous pemphigoid, pemphigoid gestationis, mucous membrane pemphigoid, anti-laminin-γ1 pemphigoid, linear immunoglobulin A bullous disease and epidermolysis bullosa acquisita (EBA), are all characterized by direct immunofluorescence microscopy or immunoglobulin deposition on the basement membrane zone. Among them, EBA is a rare acquired subepidermal autoimmune blistering disease of the skin and mucous membranes reactive with type VII collagen, a major component of the epidermal basement membrane zone. Anti-laminin-332-type mucous membrane pemphigoid has pathogenic autoantibodies against laminin-332, which is a basement membrane heterotrimeric protein composed of α3, β3 and γ2 laminin chains. Read More

    Extracellular vesicles as biomarkers for the detection of a tumor marker gene in epidermolysis bullosa-associated squamous cell carcinoma.
    J Invest Dermatol 2017 Dec 1. Epub 2017 Dec 1.
    EB House Austria, Research Program for the Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria. Electronic address:

    Bone Marrow-Derived Stem Cells Migrate into Intraepidermal Skin Defects of a Desmoglein-3 Knockout Mouse Model but Preserve their Mesodermal Differentiation.
    J Invest Dermatol 2017 Dec 2. Epub 2017 Dec 2.
    Department of Dermatology, Eberhard Karls University, Tübingen, Germany. Electronic address:
    Inherited forms of epidermolysis bullosa are blistering diseases of the skin and mucosa resulting from various gene mutations. Transplantation of bone marrow-derived stem cells might be a promising systemic treatment for severe dystrophic or junctional epidermolysis bullosa, but many key questions remain unresolved. Two open questions of clinical interest are whether systemically transplanted bone marrow-derived stem cells of mesodermal origin might be able to transdifferentiate into keratinocytes with an ectodermal phenotype and whether these cells are also capable of repairing a specific intraepidermal gene defect. Read More

    1 OF 113