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https://www.readbyqxmd.com/read/28213897/laryngo-onycho-cutaneous-like-syndrome-due-to-mutated-plectin
#1
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
#2
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
#3
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
#4
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...
January 30, 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
#5
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
#6
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
#7
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
#8
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
#9
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-act-as-critical-drivers-of-neutrophil-recruitment-in-murine-bullous-pemphigoid-like-epidermolysis-bullosa-acquisita
#10
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 as well as the individual contribution of neutrophils and eosinophils to pemphigoid diseases are, however, poorly understood. The lipid mediator leukotriene B4 (LTB4) is a potent granulocyte chemoattractant and 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 (EBA) 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
#11
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
https://www.readbyqxmd.com/read/28094098/altered-balance-of-epidermis-related-chemokines-in-epidermolysis-bullosa
#12
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
#13
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
#14
Olga M Viquez, Eugenia M Yazlovitskaya, Tianxiang Tu, Glenda Mernaugh, Pablo Secades, Karen K McKee, Elizabeth Georges-Labouesse, Adele De Arcangelis, 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 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...
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
#15
C Herbert Pratt, Christopher S Potter, 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...
February 2017: 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
#16
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
#17
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
#18
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
#19
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
#20
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
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