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    5438 results match your criteria Epidermolysis Bullosa

    1 OF 109

    Human Orf complicated by Epidermolysis Bullosa Acquisita.
    Br J Dermatol 2017 Mar 24. Epub 2017 Mar 24.
    Dermatology Department, Saint-Louis Hospital, Paris, France.
    Orf is a DNA parapoxvirus transmitted to humans by contact with infected goats and sheep. Many complications have been reported after Orf infection including erythema multiforme. A few cases of auto-immune bullous dermatosis complicating Orf disease have been reported to date, usually characterized by tense blisters eruptions with or without mucosal involvement, linear deposition of C3, IgG and/or IgA along the basement membrane and negativity of indirect immunofluorescence analysis and ELISA assays (performed in 4 of 11 reported cases) against target antigens of bullous pemphigoid, mucous membrane pemphigoid or epidermolysis bullosa acquisita, except one case of mucosal pemphigoid with antilaminin-332 antibodies. Read More

    Complement Component C3 and Complement Factor B Promote Growth of Cutaneous Squamous Cell Carcinoma.
    Am J Pathol 2017 Mar 16. Epub 2017 Mar 16.
    Department of Dermatology, University of Turku and Turku University Hospital, Turku, Finland; MediCity Research Laboratory, University of Turku, Turku, Finland. Electronic address:
    Cutaneous squamous cell carcinoma (cSCC) is one of the most common metastatic skin cancers with increasing incidence. We examined the roles of complement component C3 and complement factor B (CFB) in the growth of cSCC. Analysis of cSCC cell lines (n = 8) and normal human epidermal keratinocytes (n = 11) with real-time quantitative PCR and Western blotting revealed up-regulation of C3 and CFB expression in cSCC cells. Read More

    Botanicals With Dermatologic Properties Derived From First Nations Healing.
    J Cutan Med Surg 2017 Feb 1:1203475417690306. Epub 2017 Feb 1.
    2 Department of Dermatology & Skin Science, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
    Introduction: First Nations people have a long history of working with medicinal plants used to treat skin diseases. The purpose was to assess the dermatologic therapeutic potential of western red cedar, white spruce, birch, balsam poplar, and black spruce.

    Methods: Based on expert recommendations, 5 trees were selected that were used in First Nations medicine for cutaneous healing and have potential and/or current application to dermatology today. Read More

    Compound Heterozygosity of Dominant and Recessive COL7A Alleles in a Severely Affected Patient with a Family History of Dystrophic Epidermolysis Bullosa: Clinical Findings, Genetic Testing, and Treatment Implications.
    Pediatr Dermatol 2017 Mar;34(2):166-171
    Department of Dermatology, Mayo Clinic, Rochester, Minnesota.
    An 8-year-old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa (DDEB) presented with life-threatening confluent skin erosions, mitten hand deformity, and failure to thrive. Reassessment of her family history and genetic testing showed compound heterozygous COL7A mutations, one inherited from her DDEB-affected mother and one from her unaffected, healthy father. This family illustrates the risk of unexpected, severe, autosomal recessive epidermolysis bullosa (EB) in a family with milder, multigenerational autosomal dominant EB. Read More

    Gene editing for skin diseases: designer nucleases as tools for gene therapy of skin fragility disorders.
    Exp Physiol 2017 Mar 7. Epub 2017 Mar 7.
    EB House Austria, Research Program for Molecular Therapy of Genodermatoses, Department of Dermatology, University Hospital of the Paracelsus Medical University, Salzburg, Austria.
    The current treatment of inherited blistering skin diseases, such as epidermolysis bullosa (EB) is largely restricted to wound care and pain management. More effective therapeutic strategies are urgently required and targeting the genetic basis of these severe diseases is now within reach. Here we describe current gene editing tools and their potential to correct gene function in monogenetic blistering skin diseases. Read More

    Signaling and targeted-therapy of inflammatory cells in epidermolysis bullosa acquisita.
    Exp Dermatol 2017 Mar 7. Epub 2017 Mar 7.
    Lübeck Institute of Experimental Dermatology and Department of Dermatology, University of Lübeck, Germany.
    Pemphigoid diseases (PD) are chronic and life-threating autoimmune diseases of the skin and mucous membranes. PD are characterized and caused by autoantibodies targeting components of the basement membrane. In the PD epidermolysis bullosa acquisita (EBA) the target autoantigen is type VII collagen. Read More

    Properties of skin stem cells and their potential clinical applications in modern dermatology.
    Eur J Dermatol 2017 Mar 11. Epub 2017 Mar 11.
    Nicolaus Copernicus University in Toruń, Faculty of Medicine, Chair of Dermatology, Sexually Transmitted Diseases, Immunodermatology, Toruń, Poland.
    Stem cells play an important role in medical science, and scientists are investing large sums in order to perform sophisticated studies designed to establish potential clinical applications of stem cells. Growing experience has enabled researchers to determine the precise nature of stem cell division. Although the properties of this particular population of cells have been known and used for some time, mainly with regards to bone marrow-derived mesenchymal stem cell transplantation, we now face a significant challenge in implementing the practical use of skin-derived precursors, making it possible to avoid the necessity for patients to undergo invasive procedures in order to obtain stem cells from bone marrow. Read More

    Caesarean delivery in a pregnant woman with epidermolysis bullosa: anaesthetic challenges.
    Int J Obstet Anesth 2017 Feb 3. Epub 2017 Feb 3.
    Centro Hospitalar do Porto, Largo Prof. Abel Salazar, 4099-001 Porto, Portugal.
    Epidermolysis bullosa is a heterogeneous group of hereditary diseases characterised by extreme fragility of skin and mucosa, with blister and lesion formation spontaneously or in response to trauma. Anaesthetic management of these patients is challenging with respect to positioning, monitoring, use of medical devices and airway management. These challenges are increased when managing labour. Read More

    Mimickers of classic acantholytic diseases.
    J Dermatol 2017 Mar;44(3):232-242
    Department of Dermatology and Section of Dermatopathology, Boston University School of Medicine, Boston, Massachusetts, USA.
    Acantholysis is a commonly encountered histological pattern which typically generates a differential of the pemphigus variants, Hailey-Hailey, Darier's and Grover's diseases. In addition to these diseases, the dermatologist and dermatopathologist must be aware of entities that mimic classic acantholytic dermatoses and of rare disease variants, which are characterized by acantholysis. Read More

    Consequences of Keratin Phosphorylation for Cytoskeletal Organization and Epithelial Functions.
    Int Rev Cell Mol Biol 2017 6;330:171-225. Epub 2016 Dec 6.
    Institute of Molecular and Cellular Anatomy, RWTH Aachen University, Aachen, Germany. Electronic address:
    Intermediate filaments are major phosphoproteins. The complex patterns of intermediate filament phosphorylation make up a poorly understood code reflecting cytoskeletal properties and cellular function through an intense crosstalk with multiple signaling pathways. This review focuses on the epithelial keratin intermediate filaments highlighting the tight-knit relationship of keratin phosphorylation and network organization during cell division and apoptosis, and the importance of keratin phosphorylation during epithelial stress responses. Read More

    Revertant mosaicism in genodermatoses.
    Cell Mol Life Sci 2017 Feb 6. Epub 2017 Feb 6.
    Department of Dermatology, Yale University School of Medicine, 333 Cedar Street, New Haven, CT, 06519, USA.
    Inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. In most cases, the skin is broadly involved throughout the affected individual's lifetime, but rarely, appearance of normal skin clones has been described. In these cases of revertant mosaicism, cells undergo spontaneous correction to ameliorate the effects of genetic mutation. Read More

    A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa.
    Clin Lab 2017 Jan;63(1):157-161
    Background: Epidermolysis bullosa pruriginosa (DEB-Pr) is a rare disease caused by mutations in the collagen, type VII, alpha 1 (COL7A1) gene. Here, we identified a novel COL7A1 mutation in a Chinese family with DEB-Pr.

    Methods: Blood samples were obtained from 4 affected individuals of the 16-member family for isolation of genomic DNA. Read More

    [Current approaches to the morphologic diagnosis of different types of congenital epidermolysis bullosa].
    Arkh Patol 2016 ;78(6):9-16
    State Research Center for Dermatovenereology and Cosmetology, Ministry of Health of Russia, Moscow, Russia.
    Congenital epidermolysis bullosa (CEB) is an extensive group of hereditary skin diseases, the differential diagnosis of which is a challenge due to the rarity of this pathology and the diversity of its clinical manifestations. The determination of the type of CEB makes it possible to estimate its prognosis and to facilitate a prenatal diagnosis.

    Aim: to optimize the morphological diagnosis of different types of CEB. Read More

    Efficient in vivo gene editing using ribonucleoproteins in skin stem cells of recessive dystrophic epidermolysis bullosa mouse model.
    Proc Natl Acad Sci U S A 2017 Feb 30;114(7):1660-1665. Epub 2017 Jan 30.
    National Institute of Biological Sciences, Beijing 102206, China
    The prokaryotic CRISPR/Cas9 system has recently emerged as a powerful tool for genome editing in mammalian cells with the potential to bring curative therapies to patients with genetic diseases. However, efficient in vivo delivery of this genome editing machinery and indeed the very feasibility of using these techniques in vivo remain challenging for most tissue types. Here, we show that nonreplicable Cas9/sgRNA ribonucleoproteins can be used to correct genetic defects in skin stem cells of postnatal recessive dystrophic epidermolysis bullosa (RDEB) mice. Read More

    Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa.
    Mol Ther Nucleic Acids 2016 ;5:e379
    Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address:
    The "generalized severe" form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev) is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous membranes upon the slightest trauma. Because most patients carry exonic point mutations or small insertions/deletions, most exons of COL7A1 are in-frame, and low levels of type VII collagen already drastically improve the disease phenotype, this gene seems a perfect candidate for antisense oligonucleotide (AON)-mediated exon skipping. Read More

    Stromal microenvironment in type VII collagen-deficient skin: The ground for squamous cell carcinoma development.
    Matrix Biol 2017 Jan 24. Epub 2017 Jan 24.
    Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata (IDI)-IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy. Electronic address:
    Recessive dystrophic epidermolysis bullosa (RDEB) is a skin fragility disease caused by mutations that affect the function and/or the amount of type VII collagen (C7), the major component of anchoring fibrils. Hallmarks of RDEB are unremitting blistering and chronic wounds leading to tissue fibrosis and scarring. Nearly all patients with severe RDEB develop highly metastatic squamous cell carcinomas (SCC) which are the main cause of death. Read More

    ER stress in the pathogenesis of pretibial dystrophic epidermolysis bullosa.
    Br J Dermatol 2017 Jan 25. Epub 2017 Jan 25.
    Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan.
    Dystrophic epidermolysis bullosa (DEB) is a rare hereditary disease characterized by blistering and scarring of the skin (1) and caused by mutations in the COL7A1 gene which codes type VII collagen (C7). Pretibial dominant dystrophic epidermolysis bullosa (DDEB-Pt) is a subtype of DDEB that predominantly affects the pretibial region. This article is protected by copyright. Read More

    Unique mouse monoclonal antibodies reactive with maturation-related epitopes on type VII collagen.
    Exp Dermatol 2017 Jan 23. Epub 2017 Jan 23.
    Department of Dermatology, Kurume University School of Medicine, and Kurume University Institute of Cutaneous Cell Biology, Kurume, Japan.
    In this study, we generated a new set of monoclonal antibodies (mAbs) to bovine and human type VII collagen (COL7) by immunizing mice with bovine cornea-derived basement membrane zone (BMZ) fraction. The 4 mAbs, tentatively named as COL7-like mAbs, showed speckled subepidermal staining in addition to linear BMZ staining of normal human skin and bovine cornea, a characteristic immunofluorescence feature of COL7, but showed no reactivity with COL7 by in vitro biochemical analyses. Taking advantage of the phenomenon that COL7-like mAbs did not react with mouse BMZ, we compared immunofluorescence reactivity between wild-type and COL7-rescued humanized mice and found that COL7-like mAbs reacted with BMZ of COL7-rescued humanized mice. Read More

    The Leukotriene B4 and Its Receptor BLT1 Act as Critical Drivers of Neutrophil Recruitment in Murine Bullous Pemphigoid-Like Epidermolysis Bullosa Acquisita.
    J Invest Dermatol 2017 Jan 17. Epub 2017 Jan 17.
    Department of Dermatology, Allergy, and Venereology, University of Lübeck, 23538 Lübeck, Germany. Electronic address:
    Recruitment of neutrophils and eosinophils into the skin is a hallmark of pemphigoid diseases. The molecular cues regulating granulocyte recruitment into the skin and the individual contributions of neutrophils and eosinophils to pemphigoid diseases are, however, poorly understood. The lipid mediator leukotriene B4 (LTB4) is a potent granulocyte chemoattractant and is abundant in the skin blister fluid of bullous pemphigoid (BP) patients, but its pathogenic significance is unknown. Read More

    Bullous, pseudobullous, & pustular dermatoses.
    Semin Diagn Pathol 2016 Dec 14. Epub 2016 Dec 14.
    Section of Dermatopathology, Division of Surgical Pathology & Cytopathology, University of Virginia Medical Center, Charlottesville, VA, United States. Electronic address:
    Several dermatoses are typified by the formation of spaces (blisters; bullae) within or beneath the epidermis. These may be acellular or filled with particular species of inflammatory cells. Etiological categories include infectious, immune-mediated, genetic, drug-related, and idiopathic lesions. Read More

    Altered balance of epidermis-related chemokines in epidermolysis bullosa.
    J Dermatol Sci 2017 Apr 5;86(1):37-45. Epub 2017 Jan 5.
    Department of Dermatology, Hokkaido University Graduate School of Medicine, N15 W7, Kita-ku, Sapporo 060-8638, Japan. Electronic address:
    Background: Epidermolysis bullosa (EB) is a congenital, refractory skin disease and there are no fundamental treatments. Recently, allogenic cell therapies are beginning to be applied as potential treatments, that are based on the concept that the allogenic cells can migrate into the skin and reconstitute the skin components. Although the mechanisms of cell migration into skin are not fully understood, chemokines are regarded as key factors in recruiting bone marrow-derived cells. Read More

    Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India.
    J Dermatol Sci 2017 Apr 29;86(1):30-36. Epub 2016 Dec 29.
    Departments of Dermatology & Venereology, All India Institute of Medical Sciences, New Delhi, India. Electronic address:
    Background: Junctional epidermolysis bullosa (JEB) is a diverse group of genodermatoses associated with extreme skin fragility. Despite several well-characterized genetic studies, molecular diagnosis of this heterogeneous group is still challenging. Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing (WES) as a fast and efficient diagnostic strategy in several genodermatoses. Read More

    Integrin alpha6 maintains the structural integrity of the kidney collecting system.
    Matrix Biol 2017 Jan 30;57-58:244-257. Epub 2016 Dec 30.
    Division of Nephrology and Hypertension and Vanderbilt Center for Kidney Disease, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA; Department of Cancer Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA; Veterans Affairs Hospital, Nashville, TN 37232, USA. Electronic address:
    Laminins are a major constituent of the basement membranes of the kidney collecting system. Integrins, transmembrane receptors formed by non-covalently bound α and β subunits, serve as laminin receptors, but their role in development and homeostasis of the kidney collecting system is poorly defined. Integrin α3β1, one of the major laminin receptors, plays a minor role in kidney collecting system development, while the role of α6 containing integrins (α6β1 and α6β4), the other major laminin receptors, is unknown. Read More

    Skin fragility in the wild-derived, inbred mouse strain Mus pahari/EiJ.
    Exp Mol Pathol 2017 Feb 28;102(1):128-132. Epub 2016 Dec 28.
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609-1500, USA.
    Mus pahari is a wild-derived, inbred mouse strain. M. pahari colony managers observed fragility of this strain's skin resulting in separation of tail skin from the mouse if handled incorrectly. Read More

    Prospective studies on the routine use of a novel multivariant enzyme-linked immunosorbent assay for the diagnosis of autoimmune bullous diseases.
    J Am Acad Dermatol 2016 Dec 28. Epub 2016 Dec 28.
    Department of Dermatology, University of Lübeck, Lübeck, Germany; Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany. Electronic address:
    Background: Serologic diagnosis of autoimmune blistering disease (AIBD) usually follows a sophisticated multistep algorithm.

    Objective: We sought validation of a multivariant enzyme-linked immunosorbent assay (ELISA) in the routine diagnosis of AIBD.

    Methods: The multivariant ELISA comprising 6 recombinant immunodominant forms of major AIBD target antigens, ie, desmoglein 1, desmoglein 3, envoplakin, BP180, BP230, and type VII collagen was applied in: (1) a cohort of well-characterized AIBD (n = 173) and control sera (n = 130), (2) a prospective multicenter study with 204 sera from patients with newly diagnosed AIBD with positive direct immunofluorescence microscopy, and (3) a prospective monocenter study with 292 consecutive sera from patients with clinical suspicion of AIBD in comparison with the conventional multistep diagnostic algorithm. Read More

    Correction of Recessive Dystrophic Epidermolysis Bullosa by Transposon-Mediated Integration of COL7A1 in Transplantable Patient-Derived Primary Keratinocytes.
    J Invest Dermatol 2017 Apr 24;137(4):836-844. Epub 2016 Dec 24.
    Centre for Regenerative Medicine, Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:
    Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects in type-VII collagen (C7), a protein encoded by the COL7A1 gene and essential for anchoring fibril formation at the dermal-epidermal junction. Gene therapy of RDEB is based on transplantation of autologous epidermal grafts generated from gene-corrected keratinocytes sustaining C7 deposition at the dermal-epidermal junction. Transfer of the COL7A1 gene is complicated by its very large size and repetitive sequence. Read More

    Minimally invasive endoscopic treatment for pediatric combined high grade stenosis as a laryngeal manifestation of epidermolysis bullosa.
    Int J Pediatr Otorhinolaryngol 2017 Jan 23;92:126-129. Epub 2016 Nov 23.
    Department of Otorhinolaryngology, Head and Neck Surgery, University of Szeged, Hungary.
    Epidermolysis bullosa refers to a clinically and genetically heterogeneous group of inherited mucocutaneous diseases. Laryngotracheal lesions are momentous regarding the risk of sudden airway obstruction. The traditional treatment is tracheostomy. Read More

    Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa.
    Osteoporos Int 2017 Apr 23;28(4):1385-1392. Epub 2016 Dec 23.
    Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
    Bone status impairment represents a complication of generalized forms of epidermolysis bullosa (EB); however, the prevalence and the main determinants of this event in localized forms remain poorly defined. Birmingham epidermolysis bullosa severity (BEBS) score and 25-hydroxyvitamin D levels are strongly associated with low bone mass, suggesting that vitamin D may play a potential beneficial role in bone health. Further longitudinal studies are needed in order to confirm this hypothesis. Read More

    Research Techniques Made Simple: Mouse Models of Autoimmune Blistering Diseases.
    J Invest Dermatol 2017 Jan;137(1):e1-e6
    Department of Dermatology and Allergology, Philipps University Marburg, Marburg, Germany. Electronic address:
    Autoimmune blistering diseases are examples of autoantibody-mediated, organ-specific autoimmune disorders. Based on a genetic susceptibility, such as a strong HLA-class II association, as yet unknown triggering factors induce the formation of circulating and tissue-bound autoantibodies that are mainly directed against adhesion structures of the skin and mucous membranes. Compared with other autoimmune diseases, especially systemic disorders, the pathogenicity of autoimmune blistering diseases is relatively well described. Read More

    Multiple Milia as an Isolated Skin Manifestation of Dominant Dystrophic Epidermolysis Bullosa: Evidence of Phenotypic Variability.
    Pediatr Dermatol 2017 Mar 23;34(2):e106-e108. Epub 2016 Dec 23.
    Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
    We report a Japanese pedigree with dominant dystrophic epidermolysis bullosa (DDEB) harboring the p.G2251E mutation of COL7A1. The proband of this pedigree presented with multiple milia as an isolated skin manifestation without a history of blistering and subsequently developed generalized intractable blisters, suggesting that multiple milia could be a primary manifestation of DDEB. Read More

    Dental and Anaesthetic Challenges in a Patient with Dystrophic Epidermolysis Bullosa.
    Sultan Qaboos Univ Med J 2016 Nov 30;16(4):e495-e499. Epub 2016 Nov 30.
    Oral & Maxillofacial Surgery Residency Program, Oman Medical Specialty Board, Muscat, Oman.
    Epidermolysis bullosa is a group of rare genetic disorders characterised by skin and mucous membrane fragility and systemic manifestations of variable severity. We report a case of dystrophic epidermolysis bullosa in an 18-year-old male patient who presented to the Department of Oral Health at Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with recurrent dental pain and infections. Due to the poor dental status of the patient and anticipated operative difficulties due to microstomia and limited mouth opening, the patient underwent full dental clearance under general anaesthesia. Read More

    Reduced skin blistering in experimental epidermolysis bullosa acquisita after anti-TNF treatment.
    Mol Med 2016 Dec 20;23. Epub 2016 Dec 20.
    Lübeck Institute of Experimental Dermatology, University of Lübeck, Germany.
    Epidermolysis bullosa acquisita (EBA) is a difficult-to-treat subepidermal autoimmune blistering skin disease (AIBD) with circulating and tissue-bound anti-type VII collagen antibodies. Different reports have indicated an increased concentration of tumor necrosis factor alpha (TNF) in the serum and blister fluid of patients with subepidermal AIBDs. Furthermore, successful anti-TNF treatment has been reported for individual patients with AIBDs. Read More

    A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability - Implications for the pathogenesis of recessive dystrophic epidermolysis bullosa?
    Biochim Biophys Acta 2017 Jan 28;1863(1):52-59. Epub 2016 Oct 28.
    Institute of Chemistry, University of Lübeck, Ratzeburger Allee 160, 23562 Lübeck, Germany. Electronic address:
    Type VII collagen is the major constituent of anchoring fibrils. It has a central collagenous domain that is surrounded by a small C-terminal non-collagenous domain (NC2) and a large N-terminal non-collagenous (NC1) domain. Mutations in type VII collagen can lead to hereditary skin blistering disease dystrophic epidermolysis bullosa (DEB). Read More

    Desmosomes and corneodesmosomes and their relevance to genetic skin diseases.
    G Ital Dermatol Venereol 2017 Apr 16;152(2):148-157. Epub 2016 Dec 16.
    Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.
    Desmosomes are critical intercellular junctions between keratinocytes in the living cell layers of the epidermis. When the cells are differentiated and become cornified cells, desmosomes are transformed into corneodesmosomes. Distribution patterns of corneodesmosomes change with cell development. Read More

    [Aplasia cutis congenita associated with epidermolysis bullosa].
    Cir Cir 2016 Dec 12. Epub 2016 Dec 12.
    Departamento de Ciencias de la Salud - Unidad Cajeme, Universidad de Sonora, Ciudad Obregón, Sonora, México.
    Introduction: Aplasia cutis congenita (ACC) is a skin condition of rare presentation, this disease is characterized by absence of skin at birth and associated with facial, skin and bone skull deformities. The diagnosis is mainly clinical.

    Case Report: Male 5 days after birth, unique product of primigravida mother and no family history of relevance. Read More

    The Role of Collagen IV and Cytokeratin 5/6 Immunohistochemistry in Identifying Subtypes of Hereditary Epidermolysis Bullosa.
    Appl Immunohistochem Mol Morphol 2016 Dec 9. Epub 2016 Dec 9.
    Department of Pathology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
    Hereditary epidermolysis bullosa (EB) constitute a genodermatosis group with variable clinical severity. Biopsies diagnosed as EB in the last 4 years were retrieved from the database of the king Khalid University Hospital and military hospital lab at Saudi Arabia. The current study was performed to examine the diagnostic usefulness of immunohistochemistry, as compared with electron microscopic examination, for subclassification of HEB. Read More

    [Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment].
    Ann Dermatol Venereol 2017 Jan 5;144(1):6-35. Epub 2016 Dec 5.
    Service de dermatologie, centre de référence des épidermolyses bulleuses héréditaires, hôpital l'Archet 2, CHU de Nice, 151, route Saint-Antoine-de-Ginestière, CS 23079, 06202 Nice cedex 3, France. Electronic address:
    Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. Read More

    Development of a Clinical Diagnostic Matrix for characterising Inherited Epidermolysis Bullosa.
    Br J Dermatol 2016 Dec 7. Epub 2016 Dec 7.
    Departments of Dermatology, All India Institute of Medical Sciences.
    Background: Accurately diagnosing the subtype of Epidermolysis Bullosa (EB) is critical for management and genetic counseling. Modern laboratory techniques are largely inaccessible in developing countries, where the diagnosis remains clinical and often inaccurate.

    Objective Of The Study: To develop a simple clinical diagnostic tool to aid in the diagnosis and sub typing of EB. Read More

    Diffuse Bullous Eruptions in an Elderly Woman: Late-Onset Bullous Systemic Lupus Erythematosus.
    Case Rep Dermatol 2016 Sep-Dec;8(3):278-282. Epub 2016 Oct 13.
    Department of Internal Medicine, Advocate Illinois Masonic Medical Center, Chicago, Ill., USA.
    Vesiculobullous eruptions in the elderly represent a diverse range of varying pathophysiologies and can present a significant clinical dilemma to the diagnostician. Diagnosis requires a careful review of clinical history, attention to detail on physical and histomorphological examination, and appropriate immunofluorescence testing. We describe the case of a 73-year-old female who presented to our hospital with a painful blistering skin rash developed over 2 days. Read More

    T cells mediate autoantibody-induced cutaneous inflammation and blistering in epidermolysis bullosa acquisita.
    Sci Rep 2016 Dec 5;6:38357. Epub 2016 Dec 5.
    Lübeck Institute of Experimental Dermatology (LIED), University of Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany.
    T cells are key players in autoimmune diseases by supporting the production of autoantibodies. However, their contribution to the effector phase of antibody-mediated autoimmune dermatoses, i.e. Read More

    Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network : Example of a centre of expertise implemented in a European reference network to face the burden of a rare disease.
    Wien Klin Wochenschr 2017 Jan 1;129(1-2):1-7. Epub 2016 Dec 1.
    Department of Dermatology, Paracelsus Medical University Salzburg, Muellner Hauptstraße 48, 5020, Salzburg, Austria.
    Accurately addressing the diverse and complex issues of rare diseases (RD) in terms of prevention, recognition, diagnosis, treatment, care and research along key RD specificities, such as great heterogeneity, a limited number of patients, scarcity of relevant knowledge and expertise as well as enormous costs for patient care is a challenging task for healthcare providers and authorities that makes a supranational approach particularly feasible. The European Union has acknowledged RD matters by several initiatives, including efforts to implement national centres of expertise and European reference networks as well as a cross-border referral mechanism to foster access to expert services and to boost dissemination of clinical expertise and research activities. Exemplified by the EB House Austria, a centre of expertise for epidermolysis bullosa cross-linked with international reference partner institutions, this strategy proves its potential to be translated into optimized patient care and to meet the major medical, scientific, social and health-economic impact of RD. Read More

    Emergency Difficult Airway Management in a Patient with Severe Epidermolysis Bullosa.
    Turk J Anaesthesiol Reanim 2016 Oct 1;44(5):270-272. Epub 2016 Oct 1.
    Department of Anaesthesiology and Reanimation, İnönü University School of Medicine, Malatya, Turkey.
    Epidermolysis bullosa (EB) is a rare disease characterised by vesiculobullous lesions with minimal trauma to the skin and mucous membranes. Bleeding, scar tissue, contractures, oedema and lesions that can spread throughout the body can cause a difficult airway and vascular access in patients with EB. Therefore, anaesthetic management in patients with EB is a major problem even for experienced anaesthesiologists. Read More

    A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle.
    BMC Genet 2016 Dec 1;17(1):149. Epub 2016 Dec 1.
    Chair of Animal Breeding, Technical University of Munich, Freising, 85354, Germany.
    Background: The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a congenital skin disease. Read More

    Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
    J Invest Dermatol 2017 Mar 27;137(3):660-669. Epub 2016 Oct 27.
    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:
    Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In this study, we have identified COL7A1 mutations in a large multi-ethnic cohort of 152 extended Iranian families with high degree of consanguinity. Read More

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