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    1 OF 111

    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

    Autosomal recessive epidermolysis bullosa simplex due to KRT14 mutation: two large Palestinian families and literature review.
    J Eur Acad Dermatol Venereol 2017 Oct 12. Epub 2017 Oct 12.
    Dermatology Unit Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
    Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by trauma-induced blister formation. Four major EB types are distinguished based on the level of blister formation within the skin: EB simplex (EBS), junctional EB, dystrophic EB, and Kindler syndrome(1) . EBS represents the most common type and is defined by intraepidermal cleavage. 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 Sep 25. 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 Sep 23. Epub 2017 Sep 23.
    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, 23562, 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

    Successful Placement of a BAHA Implant in a Patient With Epidermolysis Bullosa: A Case Report and Review of the Literature.
    Ann Otol Rhinol Laryngol 2017 Sep 1:3489417729833. Epub 2017 Sep 1.
    5 Michigan Pediatric Ear, Nose, and Throat Associates, West Bloomfield, MI, USA.
    Introduction: Epidermolysis bullosa (EB) is a spectrum of mechanobullous disorders characterized by blistering following minor trauma or traction to the skin. Hearing loss in this population is poorly described in the otolaryngology literature, and its treatment oftentimes results in external auditory canal skin irritation.

    Case Presentation: We present the case of a 26-year-old female with EB and mixed hearing loss unable to wear conventional hearing aids due to sequelae of the external auditory canals. Read More

    Rapid generation of Col7a1(-/-) mouse model of recessive dystrophic epidermolysis bullosa and partial rescue via immunosuppressive dermal mesenchymal stem cells.
    Lab Invest 2017 Oct 11;97(10):1218-1224. Epub 2017 Sep 11.
    Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.
    Recessive dystrophic epidermolysis bullosa (RDEB) is a debilitating and ultimately lethal blistering disease caused by mutations to the Col7a1 gene. Development of novel cell therapies for the treatment of RDEB would be fostered by having immunodeficient mouse models able to accept human cell grafts; however, immunodeficient models of many genodermatoses such as RDEB are lacking. To overcome this limitation, we combined the clustered regularly interspaced short palindromic repeats and associated nuclease (CRISPR/Cas9) system with microinjection into NOD/SCID IL2rγc(null) (NSG) embryos to rapidly develop an immunodeficient Col7a1(-/-) mouse model of RDEB. Read More

    Cut and Paste: Efficient Homology-Directed Repair of a Dominant Negative KRT14 Mutation via CRISPR/Cas9 Nickases.
    Mol Ther 2017 Aug 24. Epub 2017 Aug 24.
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University Salzburg, 5020 Salzburg, Austria. Electronic address:
    With the ability to induce rapid and efficient repair of disease-causing mutations, CRISPR/Cas9 technology is ideally suited for gene therapy approaches for recessively and dominantly inherited monogenic disorders. In this study, we have corrected a causal hotspot mutation in exon 6 of the keratin 14 gene (KRT14) that results in generalized severe epidermolysis bullosa simplex (EBS-gen sev), using a double-nicking strategy targeting intron 7, followed by homology-directed repair (HDR). Co-delivery into EBS keratinocytes of a Cas9 D10A nickase (Cas9n), a predicted single guide RNA pair specific for intron 7, and a minicircle donor vector harboring the homology donor template resulted in a recombination efficiency of >30% and correction of the mutant KRT14 allele. Read More

    Evidence for a contributory role of a xenogeneic immune response in experimental epidermolysis bullosa acquisita.
    Exp Dermatol 2017 Sep 8. Epub 2017 Sep 8.
    Institute of Anatomy, University of Lübeck, Germany.
    Autoimmune diseases affect a large fraction of the population in Western countries. To elucidate the underlying causes, autoantibody transfer-induced mouse models have been established that greatly contributed to the understanding of the pathophysiology of these diseases. However, the role of a potentially co-occurring murine xenogeneic immune response to commonly utilized rabbit anti-mouse IgG remains poorly understood. Read More

    Structural proteins of the dermal-epidermal junction targeted by autoantibodies in pemphigoid diseases.
    Exp Dermatol 2017 Sep 8. Epub 2017 Sep 8.
    Lübeck Institute of Experimental Dermatology (LIED), University of Lübeck, Lübeck, Germany.
    The dermal-epidermal junction consists of a network of several interacting structural proteins which strengthen adhesion and mediate signaling events. This structural network consists of hemidesmosomal-anchoring filament complexes connecting the basal keratinocytes to the basement membrane. The anchoring filaments in turn interact with the anchoring fibrils to attach the basement membrane to the underlying dermis. Read More

    [Clinical characteristics and prognosis for 126 patients with severe drug eruption].
    Zhong Nan Da Xue Xue Bao Yi Xue Ban 2017 Aug;42(8):953-957
    Department of Dermatology, Xiangya Hospital, Central South University, Changsha 410008, China.
    Objective: To explore the clinical characteristics of various types of severe drug eruption and common sensitized drugs, and to provide clinical references for reducing the incidence of severe drug eruption.
 Methods: The clinical data regarding 126 cases of severe drug eruption were analyzed retrospectively from June 2009 to May 2017 in Xiangya Hospital, Central South University.
 Results: In the 126 cases of severe drug eruption, the distribution of men and women ratio was 1:1. Read More

    [Red, scaly baby: a pediatric dermatological emergency : Clinical and differential diagnoses of neonatal erythroderma].
    Hautarzt 2017 Sep 4. Epub 2017 Sep 4.
    Fachbereich Pädiatrische Dermatologie und Allergologie, Kinder- und Jugendkrankenhaus AUF DER BULT, Hannover, Deutschland.
    Neonatal, ichthyosiform erythroderma is rare and may be associated with primarily cutaneous disorders as well as with a broad spectrum of potentially severe underlying diseases. Neonatal erythroderma represents a pediatric dermatological emergency requiring a swift diagnosis and effective, interdisciplinary management. This review summarizes both primary skin diseases and systemic illnesses that are known to elicit erythroderma in neonates and young infants. Read More

    Determining the Incidence of Pneumocystis Pneumonia in Patients With Autoimmune Blistering Diseases Not Receiving Routine Prophylaxis.
    JAMA Dermatol 2017 Aug 30. Epub 2017 Aug 30.
    Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
    Importance: Pneumocystis pneumonia (PCP) is a potentially lethal opportunistic infection that primary prophylaxis can help prevent. The risk of prophylactic therapy must be weighed against the incidence of PCP in the patient population. Prophylaxis most frequently involves trimethoprim-sulfamethoxazole, with second-line therapies, including atovaquone, dapsone, and pentamide. Read More

    Epidemiology and Outcome of Squamous Cell Carcinoma in Epider-molysis Bullosa in Australia and New Zealand.
    Acta Derm Venereol 2017 Aug 30. Epub 2017 Aug 30.
    Department of Dermatology, George Hospital, Gray St, Kogarah, Sydney, Australia.
    We investigate the epidemiology and outcomes of squamous cell carcinoma (SCC) in recessive dystrophic epidermolysis bullosa (RDEB) from the Australasian EB registry cohort. Seventeen out of 49 (34.6%) RDEB patients developed at least one SCC. Read More

    PLACK syndrome resulting from a new homozygous insertion mutation in CAST.
    J Dermatol Sci 2017 Jun 9. Epub 2017 Jun 9.
    Department of Dermatology, Nice University Hospital, Nice, France; Reference Center of Hereditary Epidermolysis Bullosa CREBHN, Nice University Hospital, Nice, France.

    In vitro and in vivo models to investigate the pathomechanisms and novel treatments for pemphigoid diseases.
    Exp Dermatol 2017 Aug 20. Epub 2017 Aug 20.
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
    Pemphigoid diseases (PD) are a subgroup of rare acute or chronic autoimmune skin disorders characterized and caused by autoantibodies directed against distinct structural components of the dermal-epidermal junction. Binding of autoantibodies to their targets leads to the formation of blisters and erosions in patients. PDs comprise eight disorders for which the molecular target antigens have been identified. Read More

    Colchicine: an ancient drug with novel applications.
    Br J Dermatol 2017 Aug 18. Epub 2017 Aug 18.
    Division of Basic and Translational Biophysics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD.
    Colchicine is a historic treatment for gout that has been used for more than a millennium. It is the treatment of choice for Familial Mediterranean Fever and its associated complication, amyloidosis. The 2009 FDA approval of colchicine as a new drug had research consequences. Read More

    Multigene Next Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications.
    J Invest Dermatol 2017 Aug 19. Epub 2017 Aug 19.
    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:

    Preclinical development of an automated injection device for intradermal delivery of a cell-based therapy.
    Drug Deliv Transl Res 2017 Aug 15. Epub 2017 Aug 15.
    Cell and Gene Therapy Catapult, 12th Floor Tower Wing, Guys Hospital, Great Maze Pond, London, SE1 9RT, UK.
    Current methods for intradermal delivery of therapeutic products in clinical use include manual injection via the Mantoux technique and the use of injection devices, primarily developed for the delivery of vaccines and small molecules. A novel automated injection device is presented specifically designed for accurate delivery of multiple doses of product through a number of adjustable injection parameters, including injection depth, dose volume and needle insertion speed. The device was originally conceived for the delivery of a cell-based therapy to patients with skin wounds caused by epidermolysis bullosa. Read More

    Differential epitope recognition in the immunodominant staphylococcal antigen A of Staphylococcus aureus by mouse versus human IgG antibodies.
    Sci Rep 2017 Aug 15;7(1):8141. Epub 2017 Aug 15.
    Department of Medical Microbiology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.
    The immunodominant staphylococcal antigen A (IsaA) is a potential target for active or passive immunization against the important human pathogen Staphylococcus aureus. Consistent with this view, monoclonal antibodies against IsaA were previously shown to be protective against S. aureus infections in mouse models. Read More

    COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa.
    Mol Ther 2017 Jul 13. Epub 2017 Jul 13.
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University, 5020 Salzburg, Austria. Electronic address:
    Designer nucleases allow specific and precise genomic modifications and represent versatile molecular tools for the correction of disease-associated mutations. In this study, we have exploited an ex vivo CRISPR/Cas9-mediated homology-directed repair approach for the correction of a frequent inherited mutation in exon 80 of COL7A1, which impairs type VII collagen expression, causing the severe blistering skin disease recessive dystrophic epidermolysis bullosa. Upon CRISPR/Cas9 treatment of patient-derived keratinocytes, using either the wild-type Cas9 or D10A nickase, corrected single-cell clones expressed and secreted similar levels of type VII collagen as control keratinocytes. Read More

    Autoimmune Subepidermal Bullous Diseases of the Skin and Mucosae: Clinical Features, Diagnosis, and Management.
    Clin Rev Allergy Immunol 2017 Aug 4. Epub 2017 Aug 4.
    Department of Dermatology, University of Bern, Bern, Switzerland.
    Autoimmune subepidermal blistering diseases of the skin and mucosae constitute a large group of sometimes devastating diseases, encompassing bullous pemphigoid, gestational pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. Their clinical presentation is polymorphic. These autoimmune blistering diseases are associated with autoantibodies that target distinct components of the basement membrane zone of stratified epithelia. Read More

    [Study of a family with epidermolysis bullosa simplex resulting from a novel mutation of KRT14 gene].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Aug;34(4):504-508
    Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China.
    Objective: To determine the molecular etiology for a Chinese pedigree affected with epidermolysis bullosa simplex (EBS).

    Methods: Target region sequencing using a hereditary epidermolysis bullosa capture array combined with Sanger sequencing and bioinformatics analysis were used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online were employed to assess the pathogenicity and conservation of detected mutations. Read More

    Combined Digital/Conventional Technique for Rehabilitation of a Patient with Epidermolysis Bullosa: A Case Letter.
    J Oral Implantol 2017 Aug 4. Epub 2017 Aug 4.
    3 Tehran University of Medical Sciences Dental School prosthodontic Tehran University of Medical Sciences Dental School.
    Epidermolysis bullosa (EB) is a hereditary mucocutaneous disorder with several oral and systemic manifestations. Major problems with dental management of such patients are blisters induced from trauma and microstomia. Therefore, fixed implant-supported prosthesis may result in higher levels of satisfaction in complete edentulous EB patients. Read More

    Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.
    Am J Med Genet A 2017 Oct 2;173(10):2743-2746. Epub 2017 Aug 2.
    Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy.
    The gene DST encodes for the large protein BPAG1 involved in hemidesmosomes. Its alternative splicing gives rise to tissue-enriched isoforms in brain, muscle, and skin. The few patients described so far with bi-allelic mutations in the DST gene have either a skin phenotype of epidermolysis bullosa simplex or a neurological phenotype. Read More

    Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients.
    Mol Ther Methods Clin Dev 2017 Sep 5;6:112-123. Epub 2017 Jul 5.
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses and Department of Dermatology, University Hospital of the Paracelsus Medical University Salzburg, 5020 Salzburg, Austria.
    Epidermolysis bullosa simplex (EBS) is a blistering skin disease caused by dominant-negative mutations in either KRT5 or KRT14, resulting in impairment of keratin filament structure and epidermal fragility. Currently, nearly 200 mutations distributed across the entire length of these genes are known to cause EBS. Genome editing using programmable nucleases enables the development of ex vivo gene therapies for dominant-negative genetic diseases. Read More

    A Case of Membranous Aplasia Cutis Congenita and Dermoscopic Features.
    Int J Trichology 2017 Jan-Mar;9(1):33-34
    Department of Dermatology, Hospital General de Ciudad Real, Obispo Rafael Torija, 13005, Ciudad Real, Spain.
    Membranous, bullous, or cystic aplasia cutis congenita is a clinical subtype of aplasia cutis, covered with a membranous or glistening surface. A male newborn presented at birth with two flat lesions on the left parietal scalp, surrounded by a rim of terminal hairs. Physical examination revealed two translucent papules. Read More

    Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.
    J Biomed Inform 2017 Sep 25;73:51-61. Epub 2017 Jul 25.
    INSERM, Centre de Recherche des Cordeliers, UMR 1138 Equipe 22, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Département d'informatique médicale, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France; Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Descartes, Sorbonne Paris Cité, France.
    Objective: In the context of rare diseases, it may be helpful to detect patients with similar medical histories, diagnoses and outcomes from a large number of cases with automated methods. To reduce the time to find new cases, we developed a method to find similar patients given an index case leveraging data from the electronic health records.

    Materials And Methods: We used the clinical data warehouse of a children academic hospital in Paris, France (Necker-Enfants Malades), containing about 400,000 patients. Read More

    Epidermolysis bullosa acquisita and anti-p200 pemphigoid as major subepidermal autoimmune bullous diseases diagnosed by floor binding on indirect immunofluorescence microscopy using human salt-split skin.
    Indian J Dermatol Venereol Leprol 2017 Sep-Oct;83(5):550-555
    Department of Dermatology, University of Lübeck, Lübeck, Germany.
    Background: Subepidermal autoimmune bullous diseases are a diverse group of diseases with overlapping clinical and immunopathological features. Indirect immunofluorescence microscopy on artificially split skin helps to classify these conditions into those with staining on the epidermal side of the split ("roof-binding") and those with staining on the dermal side ("floor-binding"). Epidermolysis bullosa acquisita is the prototype of "floor-binding" subepidermal autoimmune bullous diseases. Read More

    Pro-Inflammatory Chemokines and Cytokines Dominate the Blister Fluid Molecular Signature in Patients with Epidermolysis Bullosa and Affect Leukocyte and Stem Cell Migration.
    J Invest Dermatol 2017 Jul 20. Epub 2017 Jul 20.
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania, USA. Electronic address:
    Hereditary epidermolysis bullosa (EB) is associated with skin blistering and the development of chronic nonhealing wounds. Although clinical studies have shown that cell-based therapies improve wound healing, the recruitment of therapeutic cells to blistering skin and to more advanced skin lesions remains a challenge. Here, we analyzed cytokines and chemokines in blister fluids of patients affected by dystrophic, junctional, and simplex EB. Read More

    Dimethyl fumarate modulates neutrophil extracellular trap formation in a glutathione and superoxide-dependent manner.
    Br J Dermatol 2017 Jul 22. Epub 2017 Jul 22.
    Department of Dermatology, University of Heidelberg, Heidelberg, Germany.
    Background: Neutrophil (polymorphonuclear) granulocytes (PMN) were shown to contribute to the pathogenesis of psoriasis by releasing IL-17 and LL-37/ DNA complexes via neutrophil extracellular traps (NET), webs of chromatin strands decorated with antimicrobial peptides, in psoriatic skin. Fumaderm(®) , a fumaric acid ester (FAE) formulation consisting of different FAE salts has been successfully used to treat psoriasis for decades. Most recently, FAE treatment was reported to inhibit NET formation in murine epidermolysis bullosa acquisita. Read More

    Successful forearm prosthesis fitting in a patient with epidermolysis bullosa dystrophica: Case report.
    Prosthet Orthot Int 2017 Jul 1:309364617718410. Epub 2017 Jul 1.
    1 Department of Physical and Rehabilitation Medicine, University Hospitals Leuven, Leuven, Belgium.
    Background: Epidermolysis bullosa dystrophica is a rare dermatological disease characterized by extreme skin fragility and elevated risk of developing a squamous cell carcinoma. In some cases, amputation of a limb is necessary. Case description and methods: A 37-year-old man with recessive, severe generalized epidermolysis bullosa dystrophica developed a squamous cell carcinoma on the right forearm requiring a below-elbow amputation. Read More

    Distinguishing Epidermolysis Bullosa Acquisita From Bullous Pemphigoid Without Direct Immunofluorescence.
    J Cutan Med Surg 2017 Jul 1:1203475417722734. Epub 2017 Jul 1.
    1 Departments of Dermatology and Skin Science, University of British Columbia, Vancouver, BC, Canada.
    Background: It has been postulated that periodic acid-Schiff staining of basement membrane can predict direct immunofluorescence patterns seen in epidermolysis bullosa acquisita and bullous pemphigoid. It has also been suggested that the type of inflammatory infiltrate or presence of fraying of basal keratinocytes may differentiate these two conditions.

    Objective: In this study, we aimed to confirm these observations. Read More

    CCL3/MIP1α represents a biomarker but not a mandatory cytokine for disease development in experimental epidermolysis bullosa acquisita.
    J Dermatol Sci 2017 Jun 30. Epub 2017 Jun 30.
    Department of Dermatology, University of Lübeck, Lübeck, Germany; Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.

    Evaluation of Autoimmune Bullous Diseases in Elderly Patients in Iran: A 10-Year Retrospective Study.
    Skinmed 2017 1;15(3):175-180. Epub 2017 Jun 1.
    Department of Dermatology, Autoimmune Bullous Diseases Research Center, Tehran University of Medical Sciences, Tehran, Iran.
    Autoimmune bullous diseases (ABDs) are uncommon but significant skin disorders with relatively high morbidity and mortality. Some surveys have been carried out to describe the spectrum of ABDs in a region, but this is the first that has focused on ABDs in elderly patients. This study was conducted to determine the clinicoepidemiologic features of ABDs in elderly patients. Read More

    Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita - a multicenter analysis.
    Br J Dermatol 2017 Jul 13. Epub 2017 Jul 13.
    Department of Dermatology and Allergology, Philipps-University, Marburg, Germany.
    Background: Epidermolysis bullosa acquisita is a rare, potentially devastating autoimmune disease of the skin. IgG autoantibodies directed against type VII collagen (Col7), the major component of anchoring fibrils, induce skin fragility leading to cutaneous and mucocutaneous blister formation which is mostly of a scaring phenotype. Thus, powerful and reproducible diagnostic assays are critical to establish the diagnosis of EBA early to avoid irreversible sequelae. Read More

    Maxillary Implant Prosthodontic Treatment Using Digital Laboratory Protocol for a Patient with Epidermolysis Bullosa: A Case History Report.
    Int J Prosthodont 2017 Jul/Aug;30(4):390-393
    Epidermolysis bullosa belongs to a group of genetic diseases that present with skin disorders and is characterized by generalized blister formation in response to mechanical trauma. This article reports on the management of a recessive dystrophic epidermolytic patient with four remaining periodontally compromised maxillary teeth. Treatment involved placement of four maxillary implants and use of computer-aided design/computer-assisted manufacture techniques to fabricate a fixed full-arch implant-supported prosthesis. Read More

    Type XVII collagen coordinates proliferation in the interfollicular epidermis.
    Elife 2017 Jul 11;6. Epub 2017 Jul 11.
    Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
    Type XVII collagen (COL17) is a transmembrane protein located at the epidermal basement membrane zone. COL17 deficiency results in premature hair aging phenotypes and in junctional epidermolysis bullosa. Here, we show that COL17 plays a central role in regulating interfollicular epidermis (IFE) proliferation. Read More

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