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    1 OF 114

    Inherited epidermolysis bullosa: new diagnostics and new clinical phenotypes.
    Exp Dermatol 2018 Apr 20. Epub 2018 Apr 20.
    Department of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
    Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from severe cutaneous and extracutaneous involvement caused by lack of key adhesion proteins, to mild cutaneous fragility caused by subtle molecular defects. Disease-causing variants in 20 different genes account for the genetic and allelic heterogeneity of EB. Read More

    A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review.
    BMC Gastroenterol 2018 Apr 13;18(1):47. Epub 2018 Apr 13.
    Department of Radiology and Nuclear Medicine, Medical University of Lublin, Jaczewski Str, Lublin, 820-954, Poland.
    Background: Epidermolysis bullosa (EB) constitutes a heterogenous group of rare multisystem genetically transmitted disorders comprising several blistering muco-cutaneous diseases with a monogenic basis and either autosomal dominant or autosomal recessive mode of inheritance. EB manifestation is not only limited to the skin. Systemic signs might involve the nose, ear, eye, genitourinary tract and upper gastrointestinal tract. Read More

    Dual mechanism of Type VII collagen transfer by bone marrow mesenchymal stem cell extracellular vesicles to recessive dystrophic epidermolysis bullosa fibroblasts.
    Biochimie 2018 Apr 10. Epub 2018 Apr 10.
    Department of Dermatology and Cutaneous Surgery, University of Miami School of Medicine, Miami, FL 33136, USA; Interdisciplinary Stem Cell Institute, Miami, FL 33136, USA. Electronic address:
    Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering disease resulting from a lack of type VII collagen production. Recent clinical trials have shown efficacy of bone marrow-derived mesenchymal stem cells (BM-MSCs) in the treatment of epidermolysis bullosa, including improved basement membrane restructuring and cutaneous wound healing. The mechanism as to how type VII collagen is transferred from donor stem cell to recipient RDEB cells has not been defined. Read More

    Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy.
    Pediatr Dermatol 2018 Apr 6. Epub 2018 Apr 6.
    Department of Dermatology, School of Medicine, Indiana University, Indianapolis, IN, USA.
    Desmoplakin mutations are associated with a wide variety of phenotypes affecting the skin, nails, hair, and heart. A 21-month-old boy was born with multiple erosions resembling epidermolysis bullosa, complete alopecia, nail dystrophy, palmoplantar keratoderma, and areas of follicular hyperkeratosis. He was found to have two heterozygous mutations in the desmoplakin gene: c. Read More

    A multitask clustering approach for single-cell RNA-seq analysis in Recessive Dystrophic Epidermolysis Bullosa.
    PLoS Comput Biol 2018 Apr 9;14(4):e1006053. Epub 2018 Apr 9.
    Department of Pediatrics, University of Minnesota Twin Cities, Minneapolis, Minnesota, United States of America.
    Single-cell RNA sequencing (scRNA-seq) has been widely applied to discover new cell types by detecting sub-populations in a heterogeneous group of cells. Since scRNA-seq experiments have lower read coverage/tag counts and introduce more technical biases compared to bulk RNA-seq experiments, the limited number of sampled cells combined with the experimental biases and other dataset specific variations presents a challenge to cross-dataset analysis and discovery of relevant biological variations across multiple cell populations. In this paper, we introduce a method of variance-driven multitask clustering of single-cell RNA-seq data (scVDMC) that utilizes multiple single-cell populations from biological replicates or different samples. Read More

    Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone.
    Matrix Biol 2018 Apr 5. Epub 2018 Apr 5.
    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:
    Epidermolysis bullosa (EB), a group of heritable skin fragility disorders, is characterized by blistering, erosions and chronic ulcers in the skin and mucous membranes. In some forms, the blistering phenotype is associated with extensive mutilating scarring and development of aggressive squamous cell carcinomas. The skin findings can be associated with extracutaneous manifestations in the ocular as well as gastrointestinal and vesico-urinary tracts. Read More

    Anti-Type VII Collagen Antibodies Are Identified in a Subpopulation of Bullous Pemphigoid Patients With Relapse.
    Front Immunol 2018 21;9:570. Epub 2018 Mar 21.
    Laboratory of Dermatology, Faculty of Medicine, University of Reims Champagne-Ardenne, Reims, France.
    Bullous pemphigoid (BP) is an autoimmune bullous skin disease characterized by anti-BP180 and anti-BP230 autoantibodies (AAbs). Mucous membrane involvement is an uncommon clinical feature of BP which may evoke epidermolysis bullosa acquisita, another skin autoimmune disease characterized by anti-type VII collagen AAbs. We therefore evaluated the presence of anti-type VII collagen AAbs in the serum of BP patients with and without mucosal lesions at time of diagnosis and under therapy. Read More

    Specific Inhibition of Complement Activation Significantly Ameliorates Autoimmune Blistering Disease in Mice.
    Front Immunol 2018 16;9:535. Epub 2018 Mar 16.
    Institute of Genetics, Department of Biology, University of Erlangen-Nuremberg, Erlangen, Germany.
    Epidermolysis bullosa acquisita (EBA) is an antibody-mediated blistering skin disease associated with tissue-bound and circulating autoantibodies to type VII collagen (COL7). Transfer of antibodies against COL7 into mice results in a subepidermal blistering phenotype, strictly depending on the complement component C5. Further, activation predominantly by the alternative pathway is required to induce experimental EBA, as blistering was delayed and significantly ameliorated only in factor B mice. Read More

    A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma.
    J Cosmet Dermatol 2018 Apr 1. Epub 2018 Apr 1.
    Department of Dermatology, China-Japan Friendship Hospital, Beijing, China.
    Background: Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK).

    Aims: To better understand the relationship between PPK and the gene mutations in DSP.

    Methods: A pedigree of PPK was subjected to heterozygous missense mutation analysis in the DSP gene. Read More

    Discrepancies in the evaluation of incapacity for work in a patient with epidermolysis bullosa acquisita between public pension fund and occupational medicine expert raise the issue of competencies.
    Arh Hig Rada Toksikol 2018 Mar;69(1):77-80
    1Rijeka University Faculty of Medicine, Rijeka, Croatia.
    Abstrat A 50-year-old female patient suffering from a severe form of epidermolysis bullosa acquisita (EBA) took legal action against the Croatian Pension Insurance Institute (CPII) in an attempt to overturn their assessment that she was no longer capable of working as a seamstress but still capable of doing administrative jobs. Her claim was that she was not capable of doing any job at all. She was first diagnosed EBA in 2000, and the disease progressed slowly with intermittent remissions. Read More

    Life before and beyond blistering: The role of collagen XVII in epidermal physiology.
    Exp Dermatol 2018 Mar 31. Epub 2018 Mar 31.
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
    Type XVII collagen (COL17) is a transmembranous protein that is mainly expressed in the epidermal basal keratinocytes. Epidermal-dermal attachment requires COL17 expression at the hemidesmosomes of the epidermal basement membrane zone because congenital COL17 deficiency leads to junctional epidermolysis bullosa and acquired autoimmunity to COL17 induces bullous pemphigoid. Recently, in addition to facilitating epidermal-dermal attachment, COL17 has been reported to serve as a niche for hair follicle stem cells, to regulate proliferation in the interfollicular epidermis and to be present along the non-hemidesmosomal plasma membrane of epidermal basal keratinocytes. Read More

    The critical role of C5a as an initiator of neutrophil-mediated autoimmune inflammation of the joint and skin.
    Semin Immunol 2018 Mar 27. Epub 2018 Mar 27.
    Center for Immunology and Inflammatory Diseases, Division of Rheumatology, Allergy and Immunology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
    The deposition of IgG autoantibodies in peripheral tissues and the subsequent activation of the complement system, which leads to the accumulation of the anaphylatoxin C5a in these tissues, is a common hallmark of diverse autoimmune diseases, including rheumatoid arthritis (RA) and pemphigoid diseases (PDs). C5a is a potent chemoattractant for granulocytes and mice deficient in its precursor C5 or its receptor C5aR1 are resistant to granulocyte recruitment and, consequently, to tissue inflammation in several models of autoimmune diseases. However, the mechanism whereby C5a/C5aR regulates granulocyte recruitment in these diseases has remained elusive. Read More

    Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa.
    Pediatr Res 2018 Jan 1;83(1-2):318-324. Epub 2017 Nov 1.
    Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
    Epidermolysis bullosa is classified as a genodermatosis, an inherited genetic skin disorder that results in severe, chronic skin blistering with painful and life-threatening complications. Although there is currently no cure for epidermolysis bullosa, concurrent advances in gene and stem cell therapies are converging toward combinatorial therapies that hold the promise of clinically meaningful and lifelong improvement. Recent studies using hematopoietic stem cells and mesenchymal stromal/stem cells to treat epidermolysis bullosa have demonstrated the potential for sustained, effective management of the most severe cases. Read More

    Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex.
    Pediatr Dermatol 2018 Mar 25. Epub 2018 Mar 25.
    Department of Dermatology, Nice University Hospital, Nice, France.
    Epidermolysis bullosa simplex is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT5 and KRT14 underlie the majority of reported cases. Mutations in KLHL24, a gene that encodes KLHL24 protein, have been reported recently to cause a generalized subtype of epidermolysis bullosa simplex, presumably by increasing the degradation of keratin 14. Read More

    Advances in understanding the molecular basis of skin fragility.
    F1000Res 2018 6;7:279. Epub 2018 Mar 6.
    Department of Dermatology and Venerology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Hauptstrasse 7, DE-79104, Freiburg, Germany.
    Skin fragility refers to a large group of conditions in which the ability of the skin to provide protection against trivial mechanical trauma is diminished, resulting in the formation of blisters, erosions, wounds, or scars. Acquired and physiological skin fragility is common; genetic disorders are rare but give insight into the molecular mechanisms ensuring skin stability. The paradigm is represented by inherited epidermolysis bullosa. Read More

    Management of a granulomatous lesion in a patient with Kindler's Syndrome.
    J Indian Soc Periodontol 2018 Jan-Feb;22(1):60-63
    Department of Periodontics, JMF's ACPM Dental College and Hospital, Dhule, Maharashtra, India.
    Kindler's syndrome is a rare vesiculobullous dermatological disorder sometimes involving multiple organs. First described by Kindler. The differential diagnosis includes Rothmund-Thomson syndrome and epidermolysis bullosa. Read More

    Mechanical forces in skin disorders.
    J Dermatol Sci 2018 Mar 8. Epub 2018 Mar 8.
    Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; International Research Center for Wound Repair and Regeneration, National Cheng Kung University, Tainan, Taiwan. Electronic address:
    Mechanical forces are known to regulate homeostasis of the skin and play a role in the pathogenesis of skin diseases. The epidermis consists of keratinocytes that are tightly adhered to each other by cell junctions. Defects in keratins or desmosomal/hemidesmosomal proteins lead to the attenuation of mechanical strength and formation of intraepidermal blisters in the case of epidermolysis bullosa simplex. Read More

    Blistering diseases in the mature patient.
    Clin Dermatol 2018 Mar - Apr;36(2):231-238. Epub 2017 Oct 3.
    Department of Dermatovenereology, University Hospital Center Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia. Electronic address:
    Autoimmune blistering diseases (AIBD) are a group of chronic diseases affecting the skin and mucous membranes, with different presentation, clinical course, histologic and immunopathologic findings, and different therapeutic approach. Blisters develop as a result of autoantibodies directed against distinct adhesion structures within desmosomes or within the basement membrane zone. The most common AIBD that develops in the elderly is bullous pemphigoid (previously also named "pemphigoid senilis"), but mature patients can also present with other AIBD as mucous membrane pemphigoid, epidermolysis bullosa acquisita, paraneoplastic pemphigus, pemphigus vulgaris, pemphigus foliaceus, linear IgA dermatosis, and dermatitis herpetiformis. Read More

    CRISPR/Cas9-Based Cellular Engineering for Targeted Gene Overexpression.
    Int J Mol Sci 2018 Mar 22;19(4). Epub 2018 Mar 22.
    Department of Pediatrics, Division of Blood and Marrow Transplantation, Medical School, University of Minnesota, Minneapolis, MN 55455, USA.
    Gene and cellular therapies hold tremendous promise as agents for treating genetic disorders. However, the effective delivery of genes, particularly large ones, and expression at therapeutic levels can be challenging in cells of clinical relevance. To address this engineering hurdle, we sought to employ the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system to insert powerful regulatory elements upstream of an endogenous gene. Read More

    Neutrophil adhesion is a prerequisite for antibody-mediated proteolytic tissue damage in experimental epidermolysis bullosa acquisita.
    J Invest Dermatol 2018 Mar 17. Epub 2018 Mar 17.
    Priority Area Asthma & Allergy, Research Center Borstel, 23845 Borstel, Germany, Airway Research Center North (ARCN), Member of the German Center for Lung Research (DZL). Electronic address:
    Although uncontrolled proteolytic activity mediated by activated neutrophils is a major reason for tissue damage, therapeutic approaches using protease inhibitors are inefficient. Here, we investigated the role of the immune complex-induced neutrophil adhesion and protease release in tissue damage. We show both in vitro and in vivo that immune complex-mediated neutrophil adhesion to the target tissue depends on β integrins. Read More

    Update on Genetic Conditions Affecting the Skin and the Kidneys.
    Front Pediatr 2018 2;6:43. Epub 2018 Mar 2.
    Department of Dermatology, Faculty of Medicine, Medical Center, University of Freiburg, Freiburg, Germany.
    Genetic conditions affecting the skin and kidney are clinically and genetically heterogeneous, and target molecular components present in both organs. The molecular pathology involves defects of cell-matrix adhesion, metabolic or signaling pathways, as well as tumor suppressor genes. This article gives a clinically oriented overview of this group of disorders, highlighting entities which have been recently described, as well as the progress made in understanding well-known entities. Read More

    The Autoimmune Skin Disease Bullous Pemphigoid: The Role of Mast Cells in Autoantibody-Induced Tissue Injury.
    Front Immunol 2018 1;9:407. Epub 2018 Mar 1.
    Department of Dermatology, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
    Bullous pemphigoid (BP) is an autoimmune and inflammatory skin disease associated with subepidermal blistering and autoantibodies directed against the hemidesmosomal components BP180 and BP230. Animal models of BP were developed by passively transferring anti-BP180 IgG into mice, which recapitulates the key features of human BP. By using these model systems, key cellular and molecular events leading to the BP disease phenotype are identified, including binding of pathogenic IgG to its target, complement activation of the classical pathway, mast cell degranulation, and infiltration and activation of neutrophils. Read More

    Five Novel Gene Mutations in Three Chinese Patients with Recessive Dystrophic Epidermolysis Bullosa.
    Ann Clin Lab Sci 2018 Jan;48(1):100-105
    National Research Institute for Health and Family Planning, Beijing, China
    Background: Dystrophic epidermolysis bullosa (DEB) is an inherited skin disorder with variable severity and heterogeneous genetic involvement. Recessive DEB (RDEB) is a rare heritable blistering skin condition caused by loss-of-function mutations in the gene.

    Aim: This study aimed to determine the genetic basis of three Chinese RDEB patients from different families and identify correlations between phenotype and genotype. Read More

    Effectiveness and Safety of Rituximab in Recalcitrant Pemphigoid Diseases.
    Front Immunol 2018 19;9:248. Epub 2018 Feb 19.
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
    Introduction: Rituximab (RTX) is a monoclonal antibody targeting CD20, a transmembrane protein expressed on B cells, causing B cell depletion. RTX has shown great efficacy in studies of pemphigus vulgaris, but data of pemphigoid diseases are limited.

    Objective: To assess the effectiveness and safety of RTX in pemphigoid diseases. Read More

    RNA Trans-Splicing Modulation via Antisense Molecule Interference.
    Int J Mol Sci 2018 Mar 7;19(3). Epub 2018 Mar 7.
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria.
    In recent years, RNA -splicing has emerged as a suitable RNA editing tool for the specific replacement of mutated gene regions at the pre-mRNA level. Although the technology has been successfully applied for the restoration of protein function in various genetic diseases, a higher -splicing efficiency is still desired to facilitate its clinical application. Here, we describe a modified, easily applicable, fluorescence-based screening system for the generation and analysis of antisense molecules specifically capable of improving the RNA reprogramming efficiency of a selected -specific RNA -splicing molecule. Read More

    Utility of whole exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive Dystrophic Epidermolysis Bullosa in India - implications on diagnosis, prognosis and prenatal testing.
    J Eur Acad Dermatol Venereol 2018 Mar 6. Epub 2018 Mar 6.
    GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi.
    Epidermolysis Bullosa (EB) encompasses a number of genetic conditions caused by mutations in genes involved in the formation of basement membrane resulting in blistering of the epidermis on trauma or pressure. At least 18 genes and 30 distinct subtypes of the disease are presently known[1]. Here-in, we report two un-related children with recessive dystrophic EB (RDEB) with novel compound heterozygous variations in collagen VII, one of whom had a fatal outcome and the other with a better sequel. Read More

    The Clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa.
    J Eur Acad Dermatol Venereol 2018 Mar 6. Epub 2018 Mar 6.
    Deptartment of Dermatology, Suining Central Hospital, Suining, Sichuan Province, 629000, China.
    Distrophic epidermolysis bullosa pruriginosa(DEB-Pr, OMIM#604129) is a rare subtype of epidermolysis bullosa dystrophica. It is characterized by recurrent vesicles and erosions on the extensor of the limbs at birth or shortly thereafter and pruriginosa papules and nodules accompanied with intense itching and nail dystrophy in adult stage . Histology reveals hyperkeratosis, mild acanthosis and a subepidermal blister formation . Read More

    Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
    Pediatr Dev Pathol 2018 Jan 1:1093526618761497. Epub 2018 Jan 1.
    1 Department of Dermatology, 7316 Sheffield Children's Hospital NHS Foundation Trust , Western Bank, Sheffield, UK.
    Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of EB which is characterized by intense pruritus with blistering and nodular or lichenoid lesions most prominent on the lower extremities. It is caused by variants in COL7A1 which encodes for type VII collagen. There is wide phenotypic and genotypic variability between affected individuals. Read More

    Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.
    J Dermatol 2018 Mar 3. Epub 2018 Mar 3.
    Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
    Dystrophic epidermolysis bullosa (DEB), pretibial, a rare subtype of epidermolysis bullosa (EB), is characterized by recurrent blisters and erosions predominantly on the pretibial region. We report the case of a 60-year-old Japanese woman with persistent blistering eruptions and scar formation on the pretibial region and elbows. Mutational analysis revealed a previously reported c. Read More

    Whole-Genome Expression Profiling in Skin Reveals SYK As a Key Regulator of Inflammation in Experimental Epidermolysis Bullosa Acquisita.
    Front Immunol 2018 15;9:249. Epub 2018 Feb 15.
    Department of Dermatology, University of Lübeck, Lübeck, Germany.
    Because of the morbidity and limited therapeutic options of autoimmune diseases, there is a high, and thus far, unmet medical need for development of novel treatments. Pemphigoid diseases, such as epidermolysis bullosa acquisita (EBA), are prototypical autoimmune diseases that are caused by autoantibodies targeting structural proteins of the skin, leading to inflammation, mediated by myeloid cells. To identify novel treatment targets, we performed cutaneous genome-wide mRNA expression profiling in 190 outbred mice after EBA induction. Read More

    Development of a Neo-Epitope Specific Assay for Serological Assessment of Type VII Collagen Turnover and Its Relevance in Fibroproliferative Disorders.
    Assay Drug Dev Technol 2018 Feb/Mar;16(2):123-131. Epub 2018 Mar 1.
    1 Biomarkers and Research , Nordic Bioscience, Herlev, Denmark .
    Type VII collagen is the main component of the anchoring fibrils connecting the basement membrane to the underlying interstitial matrix. Mutations in the type VII collagen gene cause dystrophic epidermolysis bullosa. Increased levels of type VII collagen in the skin have been reported in patients with systemic sclerosis (SSc), whereas reduced levels in the airways have been related to asthma. Read More

    Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.
    Clin Exp Dermatol 2018 Feb 23. Epub 2018 Feb 23.
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Recessive dystrophic epidermolysis bullosa (RDEB; OMIM #226600) is one of the most devastating subtypes of epidermolysis bullosa, a group of skin and mucous membrane blistering disorders often associated with extracutaneous manifestations. RDEB is caused by mutations in COL7A1, the gene encoding type VII collagen (C7), and to date over 700 different mutations in the 8835 nucleotides constituting the open reading frame or adjacent exon-intron boundaries of COL7A1 have been described. We used targeted next-generation sequencing to identify seven previously unreported mutations in a cohort of 17 Mexican patients who were diagnosed with RDEB based on clinical presentation and immunoepitope mapping. Read More

    A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.
    PLoS One 2018 22;13(2):e0192994. Epub 2018 Feb 22.
    University of Groningen, University Medical Center Groningen, Department of Dermatology, Groningen, the Netherlands.
    Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable blistering disorders caused by mutations in the genes encoding epidermal adhesion proteins. Moreover, revertant mosaicism appears to be present in all patients with a specific subtype of recessive epidermolysis bullosa. Read More

    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 May 2;78(5):892-901.e7. Epub 2018 Feb 2.
    Department of Dermatology, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.
    Background: Epidermolysis bullosa simplex (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 with placebo in reducing the number of blisters 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, 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 toward Treatment and Cure.
    J Invest Dermatol 2018 May 31;138(5):1010-1016. Epub 2018 Jan 31.
    DEBRA International, Vienna, Austria.
    Epidermolysis bullosa, a group of heritable blistering disorders, shows 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 epidermolysis bullosa, supports research and organizes periodic scientific and clinical meetings on this disease. Read More

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