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    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

    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 Intra-epidermal Skin Defects of a Desmoglein-3 knockout Mouse Model but Preserve their Mesodermal Differentiation.
    J Invest Dermatol 2017 Dec 1. Epub 2017 Dec 1.
    Eberhard Karls University, Department of Dermatology, 72076 Tübingen, Germany. Electronic address:
    Inherited forms of Epidermolysis bullosa (EB) are blistering diseases of the skin and mucosa resulting from various gene mutations. Transplantation of bone marrow (BM)-derived stem cells might be a promising systemic treatment for severe dystrophic or junctional EB, but many key questions remain unresolved. Two open questions of clinical interest are whether systemically transplanted BM-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 intra-epidermal gene defect. Read More

    Recessive Dystrophic Epidermolysis Bullosa and Pregnancy.
    Actas Dermosifiliogr 2017 Dec 1. Epub 2017 Dec 1.
    Servicio de Dermatología, Hospital Universitario La Paz, Madrid, España.
    Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. Read More

    Current and Future Perspectives of Stem Cell Therapy in Dermatology.
    Ann Dermatol 2017 Dec 30;29(6):667-687. Epub 2017 Oct 30.
    Department of Dermatology, Paracelsus Medical University of Salzburg, Salzburg, Austria.
    Stem cells are undifferentiated cells capable of generating, sustaining, and replacing terminally differentiated cells and tissues. They can be isolated from embryonic as well as almost all adult tissues including skin, but are also generated through genetic reprogramming of differentiated cells. Preclinical and clinical research has recently tremendously improved stem cell therapy, being a promising treatment option for various diseases in which current medical therapies fail to cure, prevent progression or relieve symptoms. Read More

    Activation of PKB/Akt and p44/42 by mechanical stretch utilizes desmosomal structures and the keratin filament.
    J Dermatol Sci 2017 Nov 30. Epub 2017 Nov 30.
    Clinic of Dermatology, Venereology and Allergology, Johann Wolfgang Goethe University, Frankfurt/Main, Germany.
    Background: Mechanical stress is an ubiquitous challenge of human cells with fundamental impact on cell physiology. Previous studies have shown that stretching promotes signalling cascades involved in proliferation and tissue enlargement.

    Objective: The present study is dedicated to learn more about cellular structures contributing to perception and signal transmission of cell stretch. Read More

    A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation.
    J Pediatr 2017 Nov 30. Epub 2017 Nov 30.
    Harvard Medical School, Boston, MA; Department of Dermatology, Massachusetts General Hospital, Boston, MA.
    We report a case of nonfatal junctional epidermolysis bullosa and pyloric atresia in a newborn. We identified a substitution (c.914C>T) for the integrin β4 gene that has been associated with favorable outcome. Read More

    Epidermolysis Bullosa Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations.
    Acta Derm Venereol 2017 Nov 28. Epub 2017 Nov 28.
    Circulating anti-type VII collagen autoantibodies are frequently detected in patients with recessive dystrophic epidermolysis bullosa (RDEB). However, evidence supporting their pathogenic role in inducing epidermolysis bullosa acquisita (EBA) has been provided for only 1 individual with dominant dystrophic epidermolysis bullosa (DDEB). We describe here a patient who presented with dystrophic toenails since early childhood and developed trauma-induced skin blisters and oral erosions at age 26 years. Read More

    Genetic diagnosis of epidermolysis bullosa: recommendations from an expert Spanish research group.
    Actas Dermosifiliogr 2017 Nov 24. Epub 2017 Nov 24.
    Departamento de Bioingeniería, Universidad Carlos III de Madrid; Unidad de Medicina Regenerativa, Centro de Investigaciones Energéticas Medioambientales y Tecnológicas (CIEMAT), IIS-Fundación Jiménez Díaz, CIBER de Enfermedades Raras (ISCIII) U714, Madrid, España. Electronic address:
    Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It comprises a clinically and genetically heterogeneous group of disorder characterized by spontaneous or contact/friction-induced blistering. EB is classified into 4 types-simplex, junctional, dystrophic, and Kindler syndrome-and 30 subtypes. Read More

    Large deletions targeting the triple-helical domain of collagen VII lead to mild acral dominant dystrophic epidermolysis bullosa.
    J Invest Dermatol 2017 Nov 24. Epub 2017 Nov 24.
    Department of Dermatology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address:

    Living with a rare disorder: a systematic review of the qualitative literature.
    Mol Genet Genomic Med 2017 Nov 23;5(6):758-773. Epub 2017 Jul 23.
    Centre for Rare Disorders, Oslo University Hospital, Rikshospitalet, P.B. 4950 Nydalen, Oslo, 0424, Norway.
    Background: Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. A wide range of different rare conditions has resulted in a myriad of studies investigating the specificities of the diagnosis in focus. The shared psychological experiences of individuals with a rare condition, however, have not been reviewed systematically. Read More

    [Epidermolysis bullosa in peru: clinical and epidemiological study of patients treated in a national reference pediatric hospital, 1993-2015].
    Rev Peru Med Exp Salud Publica 2017 Apr-Jun;34(2):201-208
    Instituto Nacional de Salud del Niño. Lima, Perú.
    Objectives: To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease.

    Materials And Methods: Observational, descriptive and transversal study. We reviewed the clinical histories and laboratory tests of patients diagnosed with EB treated in INSN from 1993 to 2015. Read More

    [Detection of influenza A, B and subtypes A (H1N1) pdm09, A (H3N2) viruses by multiple qrt-pcr in clinical samples].
    Rev Peru Med Exp Salud Publica 2017 Apr-Jun;34(2):192-200
    Laboratorio de Referencia Nacional de Biología Molecular y Biotecnología, Centro Nacional de Salud Pública, Instituto Nacional de Salud. Lima, Perú.
    Objectives.: To describe the clinical and epidemiological characteristics of patients diagnosed with epidermolysis bullosa (EB) at the Instituto Nacional de Salud (INSN) in Lima, Peru; a National Reference Center for this disease.

    Material And Methods: . Read More

    A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa.
    J Pediatr 2017 Dec;191:266-269.e1
    Department of Pediatrics, Columbia University, New York, NY; Department of Pathology and Cell Biology, Columbia University, New York, NY.
    We report a case of neonatal generalized erythema and epidermolysis resulting from a novel mutation in the junctional plakoglobin gene causing truncation of the plakoglobin protein. Expedited genetic testing enabled diagnosis while the patient was in the neonatal intensive care unit, providing valuable information for the clinicians and family. Read More

    Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree.
    Turk J Pediatr 2017 ;59(1):56-61
    Departments of Dermatology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.
    Talo-Yıldırım T, Acun-Kaya F, Taşkesen M, Dündar S, Bozoğlan A, Tekin GG, Akdeniz S. Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree. Turk J Pediatr 2017; 59: 56-61. Read More

    Effectiveness of Gastrostomy for Improving Nutritional Status and Quality of Life in Patients with Epidermolysis Bullosa: A Systematic Review.
    Br J Dermatol 2017 Nov 23. Epub 2017 Nov 23.
    University of Brasilia, School of Health Science, Graduate Program in Human Nutrition. Campus Darcy Ribeiro , 70910-900, Brasília.
    Inherited epidermolysis bullosa (EB) is a group of rare genetic disorders clinically characterized by a wide range of skin and mucosal blistering after minor trauma1 . This condition is caused by mutations on genes coding for structural proteins of the skin and affects both genders from all ethnic groups, and its estimated prevalence is about 500,000 cases worldwide2 . This article is protected by copyright. Read More

    International Bullous Diseases Group - Consensus on Diagnostic Criteria for Epidermolysis Bullosa Acquisita.
    Br J Dermatol 2017 Nov 22. Epub 2017 Nov 22.
    Department of Dermatology at St George Hospital, University of New South Wales, Sydney, Australia.
    Background: Epidermolysis bullosa acquisita (EBA) is a complex autoimmune bullous disease disease with variable clinical presentations and multiple possible diagnostic tests making an international consensus on diagnosis of EBA needed.

    Objectives: To obtain an international consensus on the clinical and diagnostic criteria for EBA.

    Methods: The international bullous diseases group (IBDG) met three times to discuss the clinical and diagnostic criteria for EBA. Read More

    New insights into pemphigoid diseases.
    Exp Dermatol 2017 Nov 21. Epub 2017 Nov 21.
    Lübeck Institute of Experimental Dermatology, University of Lübeck, Germany.
    Pemphigus and pemphigoid diseases are organ-specific autoimmune blistering diseases (AIBD), characterized and caused by autoantibodies to structural components of the skin (1). The autoantigens targeted in pemphigus are desmoglein 1 and 3, two proteins of the desmosomal structure, while the autoantigens in pemphigoid diseases (PD) are components of the basal membrane. For example, bullous pemphigoid (BP), the most frequent PD is characterized by autoantibodies against type XVII collagen (COL17, BP180) and BP230, and epidermolysis bullosa acquisita (EBA) is caused by autoantibodies against type VII collagen (COL7). Read More

    Subepidermal autoimmune bullous diseases: overview, epidemiology, and associations.
    Immunol Res 2017 Nov 21. Epub 2017 Nov 21.
    Department of Dermatology, Rambam Health Care Campus, POB 9602, 31096, Haifa, Israel.
    Subepidermal autoimmune bullous diseases of the skin and mucosae comprise a large group of chronic diseases, including bullous pemphigoid, pemphigoid gestationis, mucous membrane pemphigoid, linear IgA bullous dermatosis, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. These diseases are characterized by an antibody response toward structural components of the basement membrane zone, resulting in subepidermal blistering. The epidemiological features of these diseases vary substantially in different regions of the world. Read More

    Identification of tissue damage, extracellular matrix remodeling and bacterial challenge as common mechanisms associated with high-risk cutaneous squamous cell carcinomas.
    Matrix Biol 2017 Nov 20. Epub 2017 Nov 20.
    Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Germany; Department of Dermatology, Royal Melbourne Hospital, Parkville and Box Hill Hospital - Monash University, Eastern Health Clinical School, Box Hill, Victoria, Australia.
    In this study we used a genetic extracellular matrix (ECM) disease to identify mechanisms associated with aggressive behavior of cutaneous squamous cell carcinoma (cSCC). cSCC is one of the most common malignancies and usually has a good prognosis. However, some cSCCs recur or metastasize and cause significant morbidity and mortality. Read More

    Serration pattern analysis for differentiating epidermolysis bullosa acquisita from other pemphigoid diseases.
    J Am Acad Dermatol 2017 Nov 15. Epub 2017 Nov 15.
    University of Groningen, University Medical Center Groningen, Department of Dermatology, Center for Blistering Diseases, Groningen, the Netherlands. Electronic address:
    Background: Direct immunofluorescence microscopy (DIF) of a skin biopsy specimen is the reference standard for the diagnosis of pemphigoid diseases (PD). Serration pattern analysis enables differentiation of epidermolysis bullosa acquisita (EBA) from other PD using DIF microscopy alone. However, practice gaps need to be addressed for implication of this technique in daily routine diagnostics. Read More

    Regeneration of the entire human epidermis using transgenic stem cells.
    Nature 2017 Nov 8;551(7680):327-332. Epub 2017 Nov 8.
    Center for Regenerative Medicine "Stefano Ferrari", Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
    Junctional epidermolysis bullosa (JEB) is a severe and often lethal genetic disease caused by mutations in genes encoding the basement membrane component laminin-332. Surviving patients with JEB develop chronic wounds to the skin and mucosa, which impair their quality of life and lead to skin cancer. Here we show that autologous transgenic keratinocyte cultures regenerated an entire, fully functional epidermis on a seven-year-old child suffering from a devastating, life-threatening form of JEB. Read More

    Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
    Matrix Biol 2017 Nov 11. Epub 2017 Nov 11.
    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:
    Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanen CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. Read More

    The role of TGFβ in wound healing pathologies.
    Mech Ageing Dev 2017 Nov 11. Epub 2017 Nov 11.
    Department of Dermatology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
    Wound healing is one of the most complex processes in multicellular organisms, involving numerous intra- and intercellular signalling pathways in various cell types. It involves extensive communication between the cellular constituents of diverse skin compartments and its extracellular matrix. Miscommunication during healing may have two distinct damaging consequences: the development of a chronic wound or the formation of a hypertrophic scar/keloid. Read More

    Imaging findings in systemic childhood diseases presenting with dermatologic manifestations.
    Clin Imaging 2017 Oct 31;49:17-36. Epub 2017 Oct 31.
    Department of Radiology, Division of Pediatric Radiology, Montefiore Medical Center, Bronx, NY, United States. Electronic address:
    Purpose: Many childhood diseases often present with skin abnormalities with which radiologists are largely unfamiliar. Knowledge of associated dermatologic manifestations may aid the radiologist in confirming the diagnosis and recommending targeted imaging of affected organs.

    Methods: We review the imaging findings in childhood diseases associated with dermatologic manifestations. Read More

    Wound culture isolated antibiograms and caregiver-reported skin care practices in children with epidermolysis bullosa.
    Pediatr Dermatol 2017 Nov 6. Epub 2017 Nov 6.
    Department of Dermatology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
    Background/objectives: Many patients with epidermolysis bullosa (EB) require intensive daily wound care and individualized treatment plans. Understanding patient's home skin care routines and emerging antibiotic resistance patterns in EB wounds is necessary to optimize treatment recommendations. The objective was to identify patterns of antimicrobial resistance in EB wounds and characterize patient's home practices of skin care and bathing. Read More

    Efficacy of intravenous immunoglobulins for the treatment of mucous membrane pemphigoid-like epidermolysis bullosa acquisita.
    Eur J Dermatol 2017 Oct;27(5):563-564
    Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan, Singapore Immunology Network (SIgN) and Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), Biopolis, Singapore.

    Threonine 150 phosphorylation of keratin 5 is linked to EBS and regulates filament assembly and cell viability.
    J Invest Dermatol 2017 Oct 25. Epub 2017 Oct 25.
    Institute of Molecular and Cellular Anatomy, RWTH Aachen University, Aachen, Germany. Electronic address:
    A characteristic feature of the skin blistering disease epidermolysis bullosa simplex (EBS) is keratin filament (KF) network collapse caused by aggregation of the basal epidermal keratin type II (KtyII) K5 and its type I partner keratin 14 (K14). Here, we examine the role of keratin phosphorylation in KF network rearrangement and cellular functions. We detect phosphorylation of the K5 head domain residue T150 in cytoplasmic EBS granules containing R125C K14 mutants. Read More

    Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation.
    Br J Dermatol 2017 Oct 27. Epub 2017 Oct 27.
    Department of Dermatology and Venerology, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg Germany, Hauptstraße 7, 79104, Freiburg, Germany.
    Junctional epidermolysis bullosa (JEB) comprises rare autosomal recessive disorders with a broad spectrum of clinical features and severity. The genetic basis involves mutations in genes encoding proteins of the dermal-epidermal junction, primarily laminin 332. This heterotrimeric glycoprotein consists of laminin α3, β3 and γ2 chains, and the majority of mutations in the respective genes (LAMA3, LAMB3, and LAMC2) lead to premature termination codons resulting in severe generalized JEB (previously Herlitz)1 . Read More

    Diagnosis of Inherited Epidermolysis Bullosa in Resource-Limited Settings: Immunohistochemistry Revisited.
    Dermatology 2017 Oct 26. Epub 2017 Oct 26.
    Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.
    Background: Immunofluorescence (IFM) antigen mapping is the most commonly used technique to diagnose and differentiate epidermolysis bullosa (EB). In India, IFM is limited to few research laboratories and is not readily available, making the diagnosis largely clinical and often inaccurate. Ob jective of the Study: To examine the diagnostic usefulness of immunohistochemistry (IHC) as compared to IFM in resource-limited settings. Read More

    The Pain Quality Assessment Scale for epidermolysis bullosa.
    Acta Derm Venereol 2017 Oct 23. Epub 2017 Oct 23.
    Department of Dermatology, University Medical Center Groningen, Hanzeplein 1, NL-9700 RB Groningen, The Netherlands.
    Pain is one of the most debilitating B symptoms in epidermolysis bullosa (EB) leading to reduced quality of life. Pain in EB comprises both neuropathic and non-neuropathic qualities. An assessment of pain qualities has not formerly been completed in EB. Read More

    A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome.
    Case Rep Dermatol 2017 May-Aug;9(2):112-118. Epub 2017 Aug 3.
    Dermatology Department, King Fahad Armed Force Hospital, Jeddah, Saudi Arabia.
    Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth. After a few days, he developed blisters that were consistent with epidermolysis bullosa in histopathological examination. Read More

    Response to 'Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita - a multicenter analysis'.
    Br J Dermatol 2017 Oct 4. Epub 2017 Oct 4.
    University of Groningen, University Medical Center Groningen, Department of Dermatology, Center for Blistering Diseases, Groningen, the Netherlands.
    In a recent retrospective serological study in 95 sera from epidermolysis bullosa acquisita (EBA) patients Schmidt et al. conclude that Col7A-NC1/NC2 ELISA (MBL, Japan) is superior to NC1 ELISA, Western blot and indirect immunofluorescence (IIF) on salt-split skin (SSS) with the highest sensitivity of 97.9%. Read More

    An RNA-targeted therapy for dystrophic epidermolysis bullosa.
    Nucleic Acids Res 2017 Sep;45(17):10259-10269
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University Salzburg, Austria.
    Functional impairment or complete loss of type VII collagen, caused by mutations within COL7A1, lead to the severe recessive form of the skin blistering disease dystrophic epidermolysis bullosa (RDEB). Here, we successfully demonstrate RNA trans-splicing as an auspicious repair option for mutations located in a wide range of exons by fully converting an RDEB phenotype in an ex vivo pre-clinical mouse model based on xenotransplantation. Via a self-inactivating (SIN) lentiviral vector a 3' RNA trans-splicing molecule, capable of replacing COL7A1 exons 65-118, was delivered into type VII collagen deficient patient keratinocytes, carrying a homozygous mutation in exon 80 (c. Read More

    [Epidermolysis bullosa: oral manifestations and their treatments].
    Orv Hetil 2017 Oct;158(40):1577-1583
    Konzerváló és Esztétikai Fogászati Tanszék, Szegedi Tudományegyetem, Fogorvostudományi Kar, Szeged, Tisza L. krt. 64-66., 6720.
    The aim of this comprehensive article is to provide guidelines for the daily treatment of patients with epidermolysis bullosa, thus contributing to the attainment of their higher quality of life through the improvement of their oral health. Moreover, it is our intention to facilitate the cooperation among Hungarian general practitioners, dermatologists and dentists. Relying on recent research findings of the international literature, we intend to help general practitioners or dermatologists treating epidermolysis bullosa patients on a daily basis by identifying symptoms that require consulting an oral professional on the one hand, and to present the most important prevention strategies and further treatments advised for dentists on the other. Read More

    Inpatient management of children with recessive dystrophic epidermolysis bullosa: A review.
    Pediatr Dermatol 2017 Nov 25;34(6):647-655. Epub 2017 Sep 25.
    Department of Dermatology, University of Massachusetts Medical School, Worcester, MA, USA.
    Recessive dystrophic epidermolysis bullosa is a disorder marked by skin and mucosal blistering after minimal trauma. Even the most routine procedures in the hospital, if done incorrectly, can precipitate extensive skin loss, pain, and scarring. Most providers have little experience working with patients with this degree of skin fragility. Read More

    Calcitriol treatment ameliorates inflammation and blistering in mouse models of epidermolysis bullosa acquisita.
    J Invest Dermatol 2017 Sep 20. Epub 2017 Sep 20.
    Department of Dermatology, University of Lübeck, Germany.
    A link between hypovitaminosis D and development of autoimmune bullous disorders has been recently suggested, but this association has not been experimentally elaborated. Here, the role of vitamin D was investigated in epidermolysis bullosa acquisita (EBA), an anti-type VII collagen autoantibody-induced blistering skin disease. Oral administration of the hormonally active vitamin D metabolite calcitriol ameliorated clinical disease severity and dermal neutrophil infiltration in both an antibody transfer- and immunization-induced EBA mouse model. Read More

    Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex.
    Hum Mutat 2017 Dec 6;38(12):1666-1670. Epub 2017 Oct 6.
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
    Plectin is a linker protein that interacts with intermediate filaments and β4 integrin in hemidesmosomes of the epidermal basement membrane zone (BMZ). Type XVII collagen (COL17) has been suggested as another candidate plectin binding partner in hemidesmosomes. Here, we demonstrate that plectin-COL17 binding helps to maintain epidermal BMZ organization. Read More

    Nanoparticles prepared from porcine cells support the healing of cutaneous inflammation in mice and wound re-epithelialization in human skin.
    Exp Dermatol 2017 Sep 23. Epub 2017 Sep 23.
    Institute of Anatomy, University of Luebeck, Luebeck, Germany.
    Previous reports have demonstrated that cell-derived nanoparticles (CDNPs) composed of bovine or porcine protein complexes exerted therapeutic effects against viral infections and cancer in mice and humans. Based on these observations, we asked whether CDNPs would improve inflammatory skin disorders. To address this, we utilized two distinct mouse models of cutaneous inflammation: the autoimmune skin-blistering disease epidermolysis bullosa acquisita (EBA) as an example of an autoantibody-induced cutaneous inflammation, and Leishmania major (L. Read More

    Transglutaminases in autoimmune and inherited skin diseases: The phenomena of epitope spreading and functional compensation.
    Exp Dermatol 2017 Sep 23. Epub 2017 Sep 23.
    University of Münster, Dept of Dermatology, Münster, Germany.
    Transglutaminases (TGs) are structurally and functionally related enzymes that modify the posttranslational structure and activity of proteins or peptides, and thus are able to turn on or switch off their function. Depending on location and activities, TGs are able to modify the signaling, the function and the fate of cells and extracellular connective tissues. Beside mouse models also human diseases enable us to appreciate the function of various TGs. Read More

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