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Epidermolysis bullosa

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https://www.readbyqxmd.com/read/29447655/epidermolysis-bullosa-acquisita
#1
Gabriela Cobos, Euphemia Mu, Jeffrey Cohen, Jenna Beasley, Nooshin Brinster, Alisa Femia
Epidermolysis bullosa acquisita (EBA) is a rare, acquired subepidermal blistering disease. EBA is characterized by autoantibodies to collagen VII,which serves to link the epidermis to the dermis. The two most common presentations of EBA are classical noninflammatory EBA and bullous pemphigoid-like EBA. Diagnosis of EBA can be challenging as it sharesclinical and histopathologic features with other blistering diseases. Treatment is often recalcitrant and will often necessitate multiple therapies. We presenta case of a thirty-six-year-old Chinese man with EBA and review the literature...
December 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29447641/flame-figures-in-linear-iga-bullous-dermatosis-a-novel-histopathologic-finding
#2
E Fulton, F Jan, M J Zimarowski
BACKGROUND: Linear IgA bullous dermatosis (LABD) is an autoimmune subepidermal blistering disease usually with a neutrophil rich inflammatory infiltrate, and characterized by linear IgA deposition at the basement membrane zone (BMZ), and neutrophil predominant dermal inflammation. We report a case of LABD with numerous eosinophils and flame figure formation, a unique histopathologic finding not previously reported. A 69-year-old woman presented with a rapidly progressive, intensely pruritic rash over forearms, breasts, axillae, hips, and thighs...
November 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29441548/orf-a-potential-trigger-for-self-limiting-epidermolysis-bullosa-acquisita-like-blistering
#3
A J Carmichael, K E Harman
No abstract text is available yet for this article.
February 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29441510/translating-the-combination-of-gene-therapy-and-tissue-engineering-for-treating-recessive-dystrophic-epidermolysis-bullosa
#4
A Dakiw Piaceski, D Larouche, K Ghani, F Bisson, S Cortez Ghio, S Larochelle, M J Moulin, M Caruso, L Germain
The combination of gene therapy and tissue engineering is one of the most promising strategies for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). RDEB is a rare genetic disease characterised by mutations in the COL7A1 gene, encoding type VII collagen (COLVII), which forms anchoring fibrils at the dermal-epidermal junction of the skin. This disease causes severe blistering and only palliative treatments are offered. In this study, the base of a strategy combining gene therapy and a tissue-engineered skin substitute (TES), which would be suitable for the permanent closure of skin wounds, was set-up...
February 14, 2018: European Cells & Materials
https://www.readbyqxmd.com/read/29410318/diacerein-orphan-drug-development-for-epidermolysis-bullosa-simplex-a-phase-2-3-randomized-placebo-controlled-double-blind-clinical-trial
#5
Verena Wally, Alain Hovnanian, Juliette Ly, Hana Buckova, Victoria Brunner, Thomas Lettner, Michael Ablinger, Thomas K Felder, Peter Hofbauer, Martin Wolkersdorfer, Florian B Lagler, Wolfgang Hitzl, Martin Laimer, Sophie Kitzmüller, Anja Diem, Johann W Bauer
BACKGROUND: EBS is a rare genetic, blistering skin disease for which there is no cure. Treatments that address the pathophysiology of EBS are needed. OBJECTIVE: Compare the impact of 1% diacerein cream vs placebo in reducing blister number in EBS. METHODS: In a randomized, placebo-controlled, phase 2/3 trial we used a 1% diacerein topical formulation to treat defined skin areas in 17 patients. In a 2-period cross-over trial, patients were randomized to either placebo or diacerein for 4-week treatment and a 3-month follow-up in period 1...
February 1, 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29405827/polymicrobial-infections-do-bacteria-behave-differently-depending-on-their-neighbours
#6
Iñigo Lasa, Cristina Solano
Despite the number of examples that correlate interspecies interactions in polymicrobial infections with variations in pathogenicity and antibiotic susceptibility of individual organisms, antibiotic therapies are selected to target the most relevant pathogen, with no consideration of the consequences that the presence of other bacterial species may have in the pathogenicity and response to antimicrobial agents. In this issue of Virulence, Garcia-Perez et al. 10 applied replica plating of used wound dressings to assess the topography of distinct S...
February 6, 2018: Virulence
https://www.readbyqxmd.com/read/29397027/hereditary-palmoplantar-keratodermas-part-ii-syndromic-palmoplantar-keratodermas-diagnostic-algorithm-and-principles-of-therapy
#7
REVIEW
L Guerra, M Castori, B Didona, D Castiglia, G Zambruno
Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development...
February 3, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29392620/treatment-of-autoimmune-bullous-disorders-in-pregnancy
#8
REVIEW
Carolyn J Kushner, Josef Symon S Concha, Victoria P Werth
Autoimmune bullous diseases (AIBD), including pemphigus, bullous pemphigoid, epidermolysis bullosa acquisita, mucous membrane pemphigoid, and pemphigoid gestationis, pose significant therapeutic challenges, especially in pregnant and post-partum breastfeeding patients or those planning to conceive. Data on the safety and efficacy of therapeutic interventions during the perinatal period are lacking because randomized controlled trials are typically not performed in this setting. However, many of the treatments for AIBD are also used in other diseases, so data can be extrapolated from studies or case reports in these other patient populations...
February 2, 2018: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/29391280/injury-and-inflammation-driven-skin-fibrosis-the-paradigm-of-epidermolysis-bullosa
#9
REVIEW
Alexander Nyström, Leena Bruckner-Tuderman
Genetic or acquired destabilization of the dermal extracellular matrix evokes injury- and inflammation-driven progressive soft tissue fibrosis. Dystrophic epidermolysis bullosa (DEB), a heritable human skin fragility disorder, is a paradigmatic disease to investigate these processes. Studies of DEB have generated abundant new information on cellular and molecular mechanisms at play in skin fibrosis which are not only limited to intractable diseases, but also applicable to some of the most common acquired conditions...
January 29, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29391251/eb2017-progress-in-epidermolysis-bullosa-research-towards-treatment-and-cure
#10
Jouni Uitto, Leena Bruckner-Tuderman, John A McGrath, Rainer Riedl, Clare Robinson
Epidermolysis bullosa (EB), a group of heritable blistering disorders, demonstrates extensive phenotypic variability due to mutations in as many as 20 distinct genes. There is no cure for this devastating group of disorders, however, a number of preclinical developments show promise, and some approaches have already reached the stage of early clinical trials. Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International, a global coalition of national patient organizations advocating on behalf of the patients and families with EB, supports research and organizes periodic scientific and clinical meetings on this disease...
January 29, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29390249/-professor-robin-a-j-eady-1940-2017-in-memoriam
#11
Natale G De Santo
On August 2, 2017 died in London Professor Robin A.J. Eady, retired professor of Dermatology and pioneer and long-lasting survivor in dialysis therapy. He had been diagnosed proteinuria at the age of 9 years and had started dialysis therapy in Seattle in 1963 under the care of Belding H. Scribner. Subsequently he had received dialysis in Edmonton (Canada) and at Royal Free Hospital in London. In 1987 he had received a successful renal transplant by Peter Morris, Professor of Surgery at Oxford. He had done well for 20 years...
February 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29384803/ophthalmologic-approach-in-epidermolysis-bullosa-a-cross-sectional-study-with-phenotype-genotype-correlations
#12
Felipe Mellado, Ignacia Fuentes, Francis Palisson, José I Vergara, Arturo Kantor
PURPOSE: This study describes ophthalmologic and systemic clinical findings in different subtypes of epidermolysis bullosa (EB) establishing genotype-phenotype correlations. METHODS: A cross-sectional study was conducted in 58 patients with EB together with the Dystrophic Epidermolysis Bullosa Research Association, Chile. Data were stratified by major subtypes such as "simplex epidermolysis bullosa" (EBS), "junctional epidermolysis bullosa" (JEB), "recessive and dominant dystrophic epidermolysis bullosa" and "dominant dystrophic epidermolysis bullosa" (DDEB), and "Kindler syndrome" (KS)...
January 30, 2018: Cornea
https://www.readbyqxmd.com/read/29378637/staphylococcal-scalded-skin-syndrome-in-a-4-year-old-child-a-case-report
#13
P J Haasnoot, A De Vries
BACKGROUND: Staphylococcal scalded skin syndrome is an exfoliating skin disease which primarily affects children. Differential diagnosis includes toxic epidermal necrolysis, staphylococcal scalded skin syndrome, epidermolysis bullosa, and Stevens-Johnson syndrome. Staphylococcal scalded skin syndrome primarily affects children and can cause serious morbidity. CASE PRESENTATION: In this case report we highlight the case of a 4-year-old Caucasian boy. Diagnostic and therapeutic challenges are discussed...
January 29, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29364557/genome-wide-single-nucleotide-polymorphism-based-autozygosity-mapping-facilitates-identification-of-mutations-in-consanguineous-families-with-epidermolysis-bullosa
#14
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Sirous Zeinali, Andrew Touati, Maryam Abiri, Soheila Sotoudeh, Sara Norouz-Zadeh, Niloufar Amirinezhad, Nikoo Mozafari, Maryam Daneshpazhooh, Hamid Reza Mahmoudi, Mohammad Hamid, Jonathan P Bradfield, Cecilia E Kim, Hakon Hakonarson, Jouni Uitto
Autozygosity mapping (AM) is a technique utilized for mapping homozygous autosomal recessive (AR) traits and facilitation of genetic diagnosis. We investigated the utility of AM for the molecular diagnosis of heterogeneous AR disorders, using epidermolysis bullosa (EB) as a paradigm. We applied this technique to a cohort of 46 distinct EB families using both short tandem repeat (STR) and genome-wide single nucleotide polymorphism (SNP) array-based AM to guide targeted Sanger sequencing of EB candidate genes...
January 24, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29352809/a-novel-plec-nonsense-homozygous-mutation-c-7159g%C3%A2-%C3%A2-t-p-glu2387-causes-epidermolysis-bullosa-simplex-with-muscular-dystrophy-and-diffuse-alopecia-a-case-report
#15
Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C Branco, Raquel Senra, Ângela Reis-Rego, Luisa Mota-Vieira
BACKGROUND: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing...
January 20, 2018: BMC Dermatology
https://www.readbyqxmd.com/read/29352483/epidermal-aspects-of-type-vii-collagen-implications-for-dystrophic-epidermolysis-bullosa-and-epidermolysis-bullosa-acquisita
#16
REVIEW
Mika Watanabe, Ken Natsuga, Satoru Shinkuma, Hiroshi Shimizu
Type VII collagen (COL7), a major component of anchoring fibrils in the epidermal basement membrane zone, has been characterized as a defective protein in dystrophic epidermolysis bullosa and as an autoantigen in epidermolysis bullosa acquisita. Although COL7 is produced and secreted by both epidermal keratinocytes and dermal fibroblasts, the role of COL7 with regard to the epidermis is rarely discussed. This review focuses on COL7 physiology and pathology as it pertains to epidermal keratinocytes. We summarize the current knowledge of COL7 production and trafficking, its involvement in keratinocyte dynamics, and epidermal carcinogenesis in COL7 deficiency and propose possible solutions to unsolved issues in this field...
January 20, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29341069/reliability-and-validity-of-iscoreb-instrument-for-scoring-clinical-outcomes-of-research-for-epidermolysis-bullosa
#17
A L Bruckner, D L Fairclough, J A Feinstein, I Lara-Corrales, Anne W Lucky, Jakub Tolar, Elena Pope
BACKGROUND: Epidermolysis bullosa (EB) is a group of rare and currently incurable genetic blistering disorders. As more pathogenic driven therapies are being developed, the need for EB-specific validated outcomes measures designed for use in clinical trials is becoming important. OBJECTIVES: We previously reported on development of an instrument for scoring clinical outcomes of research for Epidermolysis Bullosa (iscorEB), a new combined clinician and patient reported outcomes tool...
January 17, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29334134/a-comprehensive-next-generation-sequencing-assay-for-the-diagnosis-of-epidermolysis-bullosa
#18
Anne W Lucky, Neha Dagaonkar, Karen Lammers, Ammar Husami, Diane Kissell, Kejian Zhang
BACKGROUND: Historically, diagnosis of epidermolysis bullosa has required skin biopsies for electron microscopy, direct immunofluorescence to determine which gene(s) to choose for genetic testing, or both. METHODS: To avoid these invasive tests, we developed a high-throughput next-generation sequencing (NGS)-based diagnostic assay called EBSEQ that allows simultaneous detection of mutations in 21 genes with known roles in epidermolysis bullosa pathogenicity. Mutations are confirmed with traditional Sanger sequencing...
January 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29332930/bullosis-diabeticorum-a-rare-presentation-with-immunoglobulin-g-igg-deposition-related-vasculopathy-case-report-and-focused-review
#19
Hardik Sonani, Sohail Abdul Salim, Vishnu V Garla, Anna Wile, Venkataraman Palabindala
BACKGROUND Bullosis diabeticorum (BD) is a condition characterized by recurrent, spontaneous, and non-inflammatory blistering in patients with poorly controlled diabetes mellitus. While etiopathogenesis remains unclear, roles of neuropathy, vasculopathy and UV light are hypothesized. Most literature reports negative direct and indirect immunofluorescence findings in diabetics with bullous eruptions. Porphyria cutanea tarda, bullous pemphigoid, epidermolysis bullosa, and pseudoporphyria are other differential diagnoses of bullous lesions, and they must be excluded...
January 15, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29330848/cultured-allogeneic-fibroblast-injection-versus-fibroblasts-cultured-on-amniotic-membrane-scaffold-for-dystrophic-epidermolysis-bullosa-treatment
#20
H Moravvej, F Abdollahimajd, M-H Naseh, Z Piravar, E Abolhasani, N Mozafari, H Niknejad
BACKGROUND: Different methods of fibroblast application have been examined to treat recessive dystrophic epidermolysis bullosa (RDEB). OBJECTIVE: To compare the effects of intradermal injection of cultured allogeneic fibroblasts in healing RDEB wounds with that of fibroblasts seeded on amniotic membrane scaffolds (FAMS) or standard wound care (SWC) with Vaseline gauze as controls. MATERIALS &METHODS: Seven patients were recruited, and seven wounds were assessed in each patient: three wounds were treated with injection of intradermal fibroblasts, three were treated with FAMS, and one was dressed with SWC...
January 12, 2018: British Journal of Dermatology
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