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https://www.readbyqxmd.com/read/28338219/human-orf-complicated-by-epidermolysis-bullosa-acquisita
#1
E Zuelgaray, C Salle de Chou, J Gottlieb, M Battistella, M D Vignon-Pennamen, M Bagot, F Guibal, J D Bouaziz
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...
March 24, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28322200/complement-component-c3-and-complement-factor-b-promote-growth-of-cutaneous-squamous-cell-carcinoma
#2
Pilvi Riihilä, Liisa Nissinen, Mehdi Farshchian, Markku Kallajoki, Atte Kivisaari, Seppo Meri, Reidar Grénman, Sirkku Peltonen, Juha Peltonen, Taina Pihlajaniemi, Ritva Heljasvaara, Veli-Matti Kähäri
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. Immunohistochemical staining revealed stronger tumor cell-specific labeling for C3 and CFB in invasive cSCCs (n = 71) and recessive dystrophic epidermolysis bullosa-associated cSCCs (n = 11) than in cSCC in situ (n = 69), actinic keratoses (n = 63), and normal skin (n = 5)...
March 16, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28300445/botanicals-with-dermatologic-properties-derived-from-first-nations-healing
#3
Sophia Colantonio, Jason K Rivers
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. We searched several databases up to June 12, 2014...
February 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28297147/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
#4
Kendra D Watson, Jennifer J Schoch, Geoffrey J Beek, Jennifer L Hand
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...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28271571/gene-editing-for-skin-diseases-designer-nucleases-as-tools-for-gene-therapy-of-skin-fragility-disorders
#5
Oliver P March, Julia Reichelt, Ulrich Koller
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. We present the features of the most frequently used gene editing techniques TALEN and CRISPR/Cas9, determining their preferential application under specific genetic conditions, including the type of mutational inheritance, the targeting site within the gene or the possibility to specifically target the mutation...
March 7, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/28266741/signaling-and-targeted-therapy-of-inflammatory-cells-in-epidermolysis-bullosa-acquisita
#6
REVIEW
Ralf J Ludwig
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. Current treatment options of PD, especially EBA, are limited and are mostly based on systemic immunosuppression. Animal models of PD have greatly advanced our understanding of PD pathogenesis. This has led to the identification of several novel therapeutic targets, including signaling molecules...
March 7, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28262626/properties-of-skin-stem-cells-and-their-potential-clinical-applications-in-modern-dermatology
#7
Anna Niezgoda, Piotr Niezgoda, Laura Nowowiejska, Agnieszka Białecka, Kaja Męcińska-Jundziłł, Urszula Adamska, Rafał Czajkowski
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...
March 11, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28258944/caesarean-delivery-in-a-pregnant-woman-with-epidermolysis-bullosa-anaesthetic-challenges
#8
M Araújo, R Brás, R Frada, L Guedes-Martins, P Lemos
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. We report an elective caesarean delivery in a nulliparous woman with autosomal recessive dystrophic epidermolysis bullosa, managed successfully with spinal anaesthesia...
February 3, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/28220564/epidermolysis-bullosa-simplex-complicated-by-allergic-contact-dermatitis-caused-by-a-hydrocolloid-dressing
#9
Sabine Müller, Dimitra Kiritsi
No abstract text is available yet for this article.
March 2017: Contact Dermatitis
https://www.readbyqxmd.com/read/28213897/laryngo-onycho-cutaneous-like-syndrome-due-to-mutated-plectin
#10
Christine Prodinger, Alfred Klausegger, Anja Diem, Johann W Bauer, Martin Laimer
Laryngo-onycho-cutaneous syndrome (LOC) is a rare autosomal recessive genodermatosis that has been mainly described in the offspring of consanguineous families with origin in the Punjabi region of Pakistan and India [1]. Founder mutations affecting the LAMA3A gene on chromosome 18q11.2 have been implicated to underlie this syndrome [1,2]. Based on its molecular and clinical features, LOC was recently classified as a subtype of junctional Epidermolysis bullosa (JEB) [1]. This article is protected by copyright...
February 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28164502/a-novel-col7a1-mutation-in-a-chinese-family-with-epidermolysis-bullosa-pruriginosa
#11
Ning Wu, Liang Jin, Gang Wang
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. The COL7A1 exons were then amplified using PCR for direct sequencing. Two unaffected family members and 50 healthy controls were also enrolled for a comparison of genetic polymorphisms...
January 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28149252/supraclavicular-artery-perforator-flap-in-management-of-post-burn-neck-reconstruction-clinical-experience
#12
H Ismail, A Elshobaky
Anterior cervical contractures of the neck represent a great challenge for plastic and reconstructive surgeons. Necks can be reconstructed with a wide range of surgical techniques, including chimeric flaps, supercharged flap, pre-expanded flaps, "superthin" flaps and perforator flaps. The supraclavicular flap is easy to harvest without the need for free tissue transfer. It provides a relatively large flap for neck resurfacing with tissue very similar to that of the neck. Between January 2013 and March 2015, 20 patients suffering from postburn neck contracture underwent reconstruction with 20 unilateral supraclavicular artery perforator flaps...
September 30, 2016: Annals of Burns and Fire Disasters
https://www.readbyqxmd.com/read/28137859/efficient-in-vivo-gene-editing-using-ribonucleoproteins-in-skin-stem-cells-of-recessive-dystrophic-epidermolysis-bullosa-mouse-model
#13
Wenbo Wu, Zhiwei Lu, Fei Li, Wenjie Wang, Nannan Qian, Jinzhi Duan, Yu Zhang, Fengchao Wang, Ting Chen
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...
February 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28126522/stromal-microenvironment-in-type-vii-collagen-deficient-skin-the-ground-for-squamous-cell-carcinoma-development
#14
REVIEW
Liliana Guerra, Teresa Odorisio, Giovanna Zambruno, Daniele Castiglia
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. Accumulating evidence from a murine RDEB model and human RDEB cells demonstrates that lack of C7 also directly alters the wound healing process...
January 23, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28121638/epidermolytic-ichthyosis-sine-epidermolysis
#15
Marina Eskin-Schwartz, Marianna Drozhdina, Ofer Sarig, Andrea Gat, Tomer Jackman, Ofer Isakov, Noam Shomron, Liat Samuelov, Natalia Malchin, Alon Peled, Dan Vodo, Alain Hovnanian, Thomas Ruzicka, Sergei Koshkin, Robert M Harmon, Jennifer L Koetsier, Kathleen J Green, Amy S Paller, Eli Sprecher
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI...
January 17, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28119998/homozygous-nonsense-mutation-and-additional-deletion-of-an-amino-acid-in-bpag1e-causing-mild-localized-epidermolysis-bullosa-simplex
#16
Yinghong He, Juna Leppert, Holger Steinke, Cristina Has
is missing (Short communication).
January 25, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28111846/unique-mouse-monoclonal-antibodies-reactive-with-maturation-related-epitopes-on-type-vii-collagen
#17
Taihei Hayakawa, Yoshiaki Hirako, Kwesi Teye, Atsunari Tsuchisaka, Hiroshi Koga, Norito Ishii, Tadashi Karashima, Minori Kaneda, Yuka Oyu, Chiharu Tateishi, Koji Sugawara, Ayano Yonamine, Satoru Shinkuma, Hiroshi Shimizu, Hideo Fukano, Kazuo Shimozato, Ngon T Nguyen, M Peter Marinkovich, Daisuke Tsuruta, Takashi Hashimoto
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...
January 23, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28111128/mutations-in-klhl24-add-to-the-molecular-heterogeneity-of-epidermolysis-bullosa-simplex
#18
John Y W Lee, Lu Liu, Chao-Kai Hsu, Sophia Aristodemou, Linda Ozoemena, Malobi Ogboli, Celia Moss, Anna E Martinez, Jemima E Mellerio, John A McGrath
No abstract text is available yet for this article.
January 19, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28108297/the-leukotriene-b4-and-its-receptor-blt1%C3%A2-act%C3%A2-as-critical-drivers-of-neutrophil-recruitment-in-murine-bullous-pemphigoid-like-epidermolysis-bullosa-acquisita
#19
Tanya Sezin, Matthias Krajewski, Adam Wutkowski, Sadegh Mousavi, Lenche Chakievska, Katja Bieber, Ralf J Ludwig, Markus Dahlke, Dirk Rades, Franziska S Schulze, Enno Schmidt, Kathrin Kalies, Yask Gupta, Paul Schilf, Saleh M Ibrahim, Peter König, Dominik Schwudke, Detlef Zillikens, Christian D Sadik
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. Using mouse models of BP-like epidermolysis bullosa acquisita and of BP, we show that LTB4 and its receptor BLT1 act as critical drivers of neutrophil entry into the skin upon antibody deposition at the dermal-epidermal junction...
January 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28108048/bullous-pseudobullous-pustular-dermatoses
#20
Mark R Wick
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. Examples of such disorders include impetigo, Herpes virus infections, pemphigus, bullous pemphigoid and pemphigoid gestationis, epidermolysis bullosa acquisita, IgA-related dermatoses, inherited epidermolysis bullosa variants, Hailey-Hailey disease, and porphyria cutanea tarda...
December 14, 2016: Seminars in Diagnostic Pathology
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