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Epidermolysis bullosa

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https://www.readbyqxmd.com/read/28094098/altered-balance-of-epidermis-related-chemokines-in-epidermolysis-bullosa
#1
Inkin Ujiie, Yasuyuki Fujita, Chihiro Nakayama, Wakana Matsumura, Shotaro Suzuki, Satoru Shinkuma, Toshifumi Nomura, Riichiro Abe, Hiroshi Shimizu
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. OBJECTIVES: Our study aims to elucidate the expression of chemokines in the EB patients...
January 5, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28087116/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
#2
Vamsi K Yenamandra, Shamsudheen K Vellarikkal, Manoj Kumar, Madhumita R Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata B Ray, Amit K Dinda, Madhulika Kabra, Punit Kaur, Vinod K Sharma, Gomathy Sethuraman
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. OBJECTIVE: In view of the scarcity and need of molecular studies for JEB in India, we sought to explore the potential of WES in understanding the mutational spectrum of this rare, in certain subtypes lethal, sub-group of EB...
December 29, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28043890/integrin-alpha6-maintains-the-structural-integrity-of-the-kidney-collecting-system
#3
Olga M Viquez, Eugenia M Yazlovitskaya, Tianxing Tu, Glenda Mernaugh, Pablo Secades, Karen K McKee, Vito Quaranta, Peter Yurchenco, Leslie C Gewin, Arnoud Sonnenberg, Ambra Pozzi, Roy Zent
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 are 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...
December 30, 2016: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28038939/skin-fragility-in-the-wild-derived-inbred-mouse-strain-mus-pahari-eij
#4
C Herbert Pratt, Christopher S Potter, Thomas J Sproule, Raoul V Kuiper, Son Yong Karst, Soheil S Dadras, Derry C Roopenian, John P Sundberg
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. Tail skin tension testing of M. pahari resulted in significantly lowered force threshold for caudal skin rupture and loss in comparison to closely related inbred mouse species and subspecies and even more than a model for junctional epidermolysis bullosa. Histologically, the tail skin separated at the subdermal level with the dermis firmly attached to the epidermis, excluding the epidermolysis bullosa complex of diseases...
December 27, 2016: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28027893/correction-of-recessive-dystrophic-epidermolysis-bullosa-by-transposon-mediated-integration-of-col7a1-in-transplantable-patient-derived-primary-keratinocytes
#5
Maria Carmela Latella, Fabienne Cocchiarella, Laura De Rosa, Giandomenico Turchiano, Manuel A F V Gonçalves, Fernando Larcher, Michele De Luca, Alessandra Recchia
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. We report a gene delivery approach based on the Sleeping beauty transposon, which allows integration of a full-length COL7A1 cDNA and secretion of C7 at physiological levels in RDEB keratinocytes without rearrangements or detrimental effects on their clonogenic potential...
December 24, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28012513/minimally-invasive-endoscopic-treatment-for-pediatric-combined-high-grade-stenosis-as-a-laryngeal-manifestation-of-epidermolysis-bullosa
#6
Dora Palinko, Vera Matievics, Ilona Szegesdi, Balazs Sztano, Laszlo Rovo
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. This case report highlights the advantages of minimally invasive interventions. A successful combined endoscopic management of a life-threatening respiratory crisis is presented in a 4-year-old child. Combined commissure stenosis with supraglottic spread was treated by CO2 laser dissection and bilateral endoscopic arytenoid abduction lateropexy, supplemented with mitomycin C application...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28012019/birmingham-epidermolysis-severity-score-and-vitamin-d-status-are-associated-with-low-bmd-in-children-with-epidermolysis-bullosa
#7
G Rodari, S Guez, F Manzoni, K K Chalouhi, E Profka, S Bergamaschi, S Salera, G Tadini, F M Ulivieri, A Spada, C Giavoli, S Esposito
: 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...
December 23, 2016: Osteoporosis International
https://www.readbyqxmd.com/read/28010761/research-techniques-made-simple-mouse-models-of%C3%A2-autoimmune-blistering-diseases
#8
Robert Pollmann, Rüdiger Eming
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...
January 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28008652/multiple-milia-as-an-isolated-skin-manifestation-of-dominant-dystrophic-epidermolysis-bullosa-evidence-of-phenotypic-variability
#9
Eijiro Akaksa, Hajime Nakano, Yuriko Takagi, Yuka Toyomaki, Daisuke Sawamura
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. Her mother exhibited nail dystrophy and pruritic nodules and her elder sister was unaffected, despite having the same COL7A1 mutation...
December 23, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/28003899/dental-and-anaesthetic-challenges-in-a-patient-with-dystrophic-epidermolysis-bullosa
#10
Ali Al-Abadi, Salah A Al-Azri, Abdulaziz Bakathir, Yusra Al-Riyami
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...
November 2016: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/27999842/reduced-skin-blistering-in-experimental-epidermolysis-bullosa-acquisita-after-anti-tnf-treatment
#11
Misa Hirose, Anika Kasprick, Foteini Beltsiou, Katharina Schulze Dieckhoff, Franziska Sophine Schulze, Unni Kjsrl Samavedam, Jennifer E Hundt, Hendri H Pas, Marcel F Jonkman, Enno Schmidt, Kathrin Kalies, Detlef Zillikens, Ralf J Ludwig, Katja Bieber
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. Here, we show that in mice, induction of experimental EBA by repeated injections of rabbit-anti mouse type VII collagen antibodies led to increased expression of TNF in skin, as determined by real-time PCR and immunohistochemistry...
December 20, 2016: Molecular Medicine
https://www.readbyqxmd.com/read/27989960/a-type-vii-collagen-subdomain-mutant-is-thermolabile-and-shows-enhanced-proteolytic-degradability-implications-for-the-pathogenesis-of-recessive-dystrophic-epidermolysis-bullosa
#12
Cordula Windler, Ulrike Hermsdorf, Jürgen Brinckmann, Karsten Seeger
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). Most of the pathogenic missense mutations are within the collagenous domain. NC1 domain mediates interactions with other extracellular matrix molecules and only very few missense mutations within NC1 causing DEB have been reported...
October 27, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27982550/desmosomes-and-corneodesmosomes-and-their-relevance-to-genetic-skin-diseases
#13
Akemi Ishida-Yamamoto, Mari Kishibe, Masaru Honma
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. Namely, in the lower stratum corneum, corneodesmosomes are seen all around the cell membrane, but in the upper layers, they are only found at the edges of the flattened cells. Recently, it has been proposed that tight junction-derived structures are involved in this unique distribution of corneodesmosomes by protecting corneodesmosome degradation from proteases...
December 16, 2016: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/27979363/-aplasia-cutis-congenita-associated-with-epidermolysis-bullosa
#14
Félix Muñoz-Guerrero, Adrián Antonio Muñoz-Solís, José Manuel Ornelas-Aguirre
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. Physical examination revealed bilateral and symmetrical skin defects of both lower extremities, the disease is characterized by skin fragility, scabs, and coated pseudomembrane ulcers, decreased interdigital space between toes of the left foot, retraction of the foot and genu varum...
December 12, 2016: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/27966558/gene-therapy-for-epidermolysis-bullosa-sticky-business
#15
EDITORIAL
Alexander Nyström, Leena Bruckner-Tuderman
No abstract text is available yet for this article.
December 2016: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/27941563/the-role-of-collagen-iv-and-cytokeratin-5-6-immunohistochemistry-in-identifying-subtypes-of-hereditary-epidermolysis-bullosa
#16
Ahmed Alhumidi
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. Fourteen cases were studied. Collagen IV immunostain was located above the blister in all dystrophic EB cases, and below the blister in all cases of epidermolytic and junctional EB...
December 9, 2016: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/27931749/-hereditary-epidermolysis-bullosa-french-national-guidelines-pnds-for-diagnosis-and-treatment
#17
C Chiaverini, E Bourrat, J Mazereeuw-Hautier, S Hadj-Rabia, C Bodemer, J-P Lacour
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. They are classified by level of skin cleavage (from top to bottom) into four groups: EB simplex, junctional EB, dystrophic EB and Kindler syndrome...
December 5, 2016: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27925151/development-of-a-clinical-diagnostic-matrix-for-characterising-inherited-epidermolysis-bullosa
#18
V K Yenamandra, C Moss, V Sreenivas, M Khan, S Sivasubbu, V K Sharma, G Sethuraman
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. METHODS: We developed a matrix indicating presence or absence of a set of distinctive clinical features (rows) for the 9 more prevalent EB subtypes (columns)...
December 7, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27920678/diffuse-bullous-eruptions-in-an-elderly-woman-late-onset-bullous-systemic-lupus-erythematosus
#19
Prajwal Boddu, Mojtaba Nadiri, Owais Malik
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. Examination of the skin was remarkable for numerous flaccid hemorrhagic bullae on a normal-appearing nonerythematous skin involving both the upper and lower extremities...
September 2016: Case Reports in Dermatology
https://www.readbyqxmd.com/read/27917914/t-cells-mediate-autoantibody-induced-cutaneous-inflammation-and-blistering-in-epidermolysis-bullosa-acquisita
#20
Katja Bieber, Mareike Witte, Shijie Sun, Jennifer E Hundt, Kathrin Kalies, Sören Dräger, Anika Kasprick, Trix Twelkmeyer, Rudolf A Manz, Peter König, Jörg Köhl, Detlef Zillikens, Ralf J Ludwig
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., tissue injury and inflammation of the skin, has not been investigated. In this paper, we demonstrate that T cells amplify the development of autoantibody-induced tissue injury in a prototypical, organ-specific autoimmune disease, namely epidermolysis bullosa acquisita (EBA) - characterized and caused by autoantibodies targeting type VII collagen...
December 5, 2016: Scientific Reports
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