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Epidermolysis bullosa

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https://www.readbyqxmd.com/read/27909793/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
#1
Martin Laimer, Gabriela Pohla-Gubo, Anja Diem, Christine Prodinger, Johann W Bauer, Helmut Hintner
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...
December 1, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27909609/emergency-difficult-airway-management-in-a-patient-with-severe-epidermolysis-bullosa
#2
Ahmet Selim Özkan, Gülay Erdoğan Kayhan, Sedat Akbaş, Osman Kaçmaz, Mahmut Durmuş
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. Herein, we report a case of difficult airway management in a patient diagnosed with severe EB who presented for emergency tracheostomy because of respiratory failure under general anaesthesia...
October 2016: Turkish Journal of Anaesthesiology and Reanimation
https://www.readbyqxmd.com/read/27905875/a-nonsense-mutation-in-the-col7a1-gene-causes-epidermolysis-bullosa-in-vorderwald-cattle
#3
Hubert Pausch, Simon Ammermüller, Christine Wurmser, Henning Hamann, Jens Tetens, Cord Drögemüller, Ruedi Fries
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. The clinical findings in affected calves were compatible with epidermolysis bullosa. RESULTS: Pedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle...
December 1, 2016: BMC Genetics
https://www.readbyqxmd.com/read/27899325/dystrophic-epidermolysis-bullosa-col7a1-mutation-landscape-in-a-multi-ethnic-cohort-of-152-extended-families-with-high-degree-of-customary-consanguineous-marriages
#4
Hassan Vahidnezhad, Leila Youssefian, Sirous Zeinali, Amir Hossein Saeidian, Soheila Sotudeh, Nikoo Mozafari, Maryam Abiri, Abdolmohammad Kajbafzadeh, Mohammadreza Barzegar, Adam Ertel, Paolo Fortina, Jouni Uitto
Dystrophic epidermolysis bullosa (DEB) 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 DEB. In this study, we have identified COL7A1 mutations in a large multi-ethnic cohort of 152 extended Iranian families with high degree of consanguinity. The patients were diagnosed by clinical manifestations, histopathology and immunoepitope mapping. Mutation detection consisted of a combination of a single nucleotide polymorphism-based whole genome homozygosity mapping, Sanger sequencing and gene targeted next generation sequencing...
October 27, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27893576/the-use-of-a-burn-surgery-technique-to-improve-wounds-healing-in-epidermolysis-bullosa
#5
Eleni Chamaidi, Azzam Farroha
No abstract text is available yet for this article.
November 14, 2016: Journal of Burn Care & Research: Official Publication of the American Burn Association
https://www.readbyqxmd.com/read/27889290/randomized-split-body-single-blinded-clinical-trial-of-topical-broccoli-sprout-extract-assessing-the-feasibility-of-its-use-in-keratin-based-disorders
#6
Michelle L Kerns, Lark Guss, Jed Fahey, Bernard Cohen, Jill M C Hakim, Sarah Sung, Rosemary G Lu, Pierre A Coulombe
BACKGROUND: Epidermolysis bullosa simplex is a skin-blistering disorder caused by mutations in keratin (K)14 or K5. Treatment with nuclear factor (erythroid-derived 2)-like 2 inducer sulforaphane ameliorated skin blistering in Krt14-null mice, correlating with induction of K17. To be therapeutically useful for epidermolysis bullosa simplex, topical broccoli sprout extract (BSE), enriched for sulforaphane, would ideally induce the expression of homologous keratins (eg, K6, K17, K16) in the basal layer of human epidermis without impacting expression of defective keratins (K5/K14)...
November 23, 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27889062/monoallelic-mutations-in-the-translation-initiation-codon-of-klhl24-cause-skin-fragility
#7
Yinghong He, Kristin Maier, Juna Leppert, Ingrid Hausser, Agnes Schwieger-Briel, Lisa Weibel, Martin Theiler, Dimitra Kiritsi, Hauke Busch, Melanie Boerries, Katariina Hannula-Jouppi, Hannele Heikkilä, Kaisa Tasanen, Daniele Castiglia, Giovanna Zambruno, Cristina Has
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechanically induced formation of skin blisters, is largely known, but a number of cases still remain genetically unsolved. Here, we used whole-exome and targeted sequencing to identify monoallelic mutations, c.1A>G and c.2T>C, in the translation initiation codon of the gene encoding kelch-like protein 24 (KLHL24) in 14 individuals with a distinct skin-fragility phenotype and skin cleavage within basal keratinocytes...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27882080/a-novel-krt5-mutation-associated-with-generalized-severe-epidermolysis-bullosa-simplex-in-a-2-year-old-chinese-boy
#8
Jia Zhang, Ming Yan, Jianying Liang, Ming Li, Zhirong Yao
Mutations in keratin 5 (KRT5) or KRT14 genes are responsible for the most severe form of epidermolysis bullosa simplex (EBS), which is EBS generalized severe (EBS-gen sev). To date, only four pathogenic mutations (p.Arg165Ser and p.Lys199Asn in KRT5; p.Arg125Cys and p.Arg125His in KRT14) have been reported to be responsible for EBS-gen sev in the Chinese population. In the present study, a 2-year-old Chinese boy was clinically suspected to suffer from EBS, and thus Sanger sequencing was performed in the extracted genomic DNA samples from the patient, his parents and 100 healthy controls...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27878870/epidermolysis-bullosa-simplex-in-sibling-eurasier-dogs-is-caused-by-a-plec-non-sense-variant
#9
Elizabeth A Mauldin, Ping Wang, Thierry Olivry, Paula S Henthorn, Margret L Casal
BACKGROUND: Plectin, a large linker protein found in many tissues, acts to connect components of the cytoskeleton to each other. In the epidermis, plectin binds keratin intermediate filaments to hemidesmosomes. A deficiency of plectin in the skin leads to blister formation in the basal layer and the disease epidermolysis bullosa simplex (EBS). HYPOTHESIS/OBJECTIVES: To describe a novel blistering disease that arose spontaneously in a litter of puppies. ANIMALS: Two female and one male 20-day-old Eurasier puppies, from a litter of six, were presented for evaluation of failure to thrive and then euthanized due to poor prognosis...
November 7, 2016: Veterinary Dermatology
https://www.readbyqxmd.com/read/27846969/topical-timolol-for-chronic-wounds-in-patients-with-junctional-epidermolysis-bullosa
#10
Christine Chiaverini, Thierry Passeron, Jean-Philippe Lacour
No abstract text is available yet for this article.
December 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27831940/pseudo-bullous-dermatosis-induced-by-topical-anesthetic-agent-clues-to-this-localized-toxic-reaction
#11
Christopher R Kieliszak, John R Griffin, Tess H Pollinger, Jacqueline M Junkins-Hopkins
Eutectic mixture of 2.5% lidocaine and 2.5% prilocaine (EMLA AstraZeneca, DE) is a widely used topical anesthetic cream for preprocedural cutaneous analgesia. In addition to potential clinical cutaneous and systemic adverse effects, EMLA may also induce microscopic changes detectable by light and electron microscopy leading to difficulty in accurate diagnosis. We report the case of a biopsy demonstrating EMLA-induced histopathologic changes. The biopsy was taken from the back of a 5-month-old infant and submitted to rule out psoriasis...
October 26, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27827380/carriers-with-functional-null-mutations-in-lama3-have-localized-enamel-abnormalities-due-to-haploinsufficiency
#12
Katarzyna B Gostyńska, Wing Yan Yuen, Anna Maria Gerdina Pasmooij, Cornelius Stellingsma, Hendri H Pas, Henny Lemmink, Marcel F Jonkman
The hereditary blistering disease junctional epidermolysis bullosa (JEB) is always accompanied by structural enamel abnormalities of primary and secondary dentition, characterized as amelogenesis imperfecta. Autosomal recessive mutations in LAMA3, LAMB3 and LAMC2 encoding the heterotrimer laminin 332 (LM-332) are among the genes causing JEB. While examining pedigrees of JEB patients with LAMA3 mutations, we observed that heterozygous carriers of functional null mutations displayed subtle enamel pitting in the absence of skin fragility or other JEB symptoms...
November 9, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27813154/epidermolysis-bullosa-with-pyloric-atresia-and-significant-urologic-involvement
#13
Gregory D Walker, Meghan Woody, Elizabeth Orrin, Jemima E Mellerio, Moise L Levy
Epidermolysis bullosa (EB) is a rare inherited disease that causes epidermal fragility, blistering, and erosions. EB results from a variety of mutations in proteins of the skin and mucous membranes of the body. Mutations in plectin a protein involved in hemidesmosome integrity and function, are associated with subtypes of EB, including EB with pyloric atresia and EB with muscular dystrophy. We present two cases of EB with significant urologic involvement resulting from mutations in plectin.
November 4, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27802546/safety-and-wound-outcomes-following-genetically-corrected-autologous-epidermal-grafts-in-patients-with-recessive-dystrophic-epidermolysis-bullosa
#14
Zurab Siprashvili, Ngon T Nguyen, Emily S Gorell, Kylie Loutit, Phuong Khuu, Louise K Furukawa, H Peter Lorenz, Thomas H Leung, Douglas R Keene, Kerri E Rieger, Paul Khavari, Alfred T Lane, Jean Y Tang, M Peter Marinkovich
Importance: Recessive dystrophic epidermolysis bullosa (RDEB) is a devastating, often fatal, inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. Support and palliation are the only current therapies. Objective: To evaluate the safety and wound outcomes following genetically corrected autologous epidermal grafts in patients with RDEB. Design, Setting, and Participants: Single-center phase 1 clinical trial conducted in the United States of 4 patients with severe RDEB with a measured area of wounds suitable for grafting of at least 100 cm2...
November 1, 2016: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/27798626/stabilizing-mutations-of-klhl24-ubiquitin-ligase-cause-loss-of-keratin-14-and-human-skin-fragility
#15
Zhimiao Lin, Shuo Li, Cheng Feng, Shang Yang, Huijun Wang, Danhui Ma, Jing Zhang, Mengting Gou, Dingfang Bu, Tengjiang Zhang, Xiaohui Kong, Xintong Wang, Ofer Sarig, Yali Ren, Lanlan Dai, Hankui Liu, Jianguo Zhang, Fei Li, Yongyan Hu, Gilly Padalon-Brauch, Dan Vodo, Feng Zhou, Ting Chen, Haiteng Deng, Eli Sprecher, Yong Yang, Xu Tan
Skin integrity is essential for protection from external stress and trauma. Defects in structural proteins such as keratins cause skin fragility, epitomized by epidermolysis bullosa (EB), a life-threatening disorder. Here we show that dominant mutations of KLHL24, encoding a cullin 3-RBX1 ubiquitin ligase substrate receptor, cause EB. We have identified start-codon mutations in the KLHL24 gene in five patients with EB. These mutations lead to truncated KLHL24 protein lacking the initial 28 amino acids (KLHL24-ΔN28)...
December 2016: Nature Genetics
https://www.readbyqxmd.com/read/27793182/homocysteine-metabolism-in-children-and-adolescents-with-epidermolysis-bullosa
#16
Rachele De Giuseppe, Greta Venturelli, Sophie Guez, Simona Salera, Claudia De Vita, Dario Consonni, Cinzia Dellanoce, Fabrizia Bamonti, Gabriella Chiarelli, Francesca Manzoni, Rita Maiavacca, Susanna Esposito
BACKGROUND: Epidermolysis bullosa (EB) belongs to a family of rare heterogeneous, genetic disorders characterized by blistering of the skin and mucous membranes in response to minor mechanical trauma. The involvement of the oral mucosa and oesophagus stenosis is suggested to be responsible for severe nutritional deficiencies, but few studies have till now considered this aspect. This observational study aimed to evaluate homocysteine status in children and adolescents with EB by assessing total plasma homocysteine (tHcy) and metabolically related vitamins (B6, B12, folate) concentrations...
October 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27777188/persistent-elevation-of-serum-interleukin-6-and-serum-amyloid-a-levels-in-patients-with-recessive-dystrophic-epidermolysis-bullosa
#17
Shin Morizane, Kazuko Mizuno, Tetsuya Takiguchi, Satoko Ogita, Yoshinobu Nishida, Yoshio Kawakami, Keiji Iwatsuki
No abstract text is available yet for this article.
October 24, 2016: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/27772543/stem-cell-therapy-for-epidermolysis-bullosa-does-it-work
#18
Katsuto Tamai, Jouni Uitto
Epidermolysis bullosa is a group of heritable skin fragility disorders with considerable morbidity and mortality. It is known to be caused by mutations in as many as 18 distinct genes, but there is no specific or effective treatment. Preclinical developments of gene correction, protein replacement, and cell-based approaches for treatment have suggested new therapeutic avenues, and some of them, including bone marrow transplantation and mesenchymal stem cell therapy, have entered into early clinical trials. Hammersen et al...
November 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27767273/incidence-of-autoimmune-bullous-diseases-in-serbia-a-20-year-retrospective-study
#19
Mirjana V Milinković, Slavenka Janković, Ljiljana Medenica, Miloš Nikolić, Vesna Reljić, Svetlana Popadić, Janko Janković
BACKGROUND AND OBJECTIVES: While most previous surveys on the clinico-epidemiological features of autoimmune bullous diseases (AIBDs) have predominantly focused on a single disease entity or just one disease group, there have been only few studies examining the incidence of various AIBDs. In the present study, we set out to determine the spectrum of AIBDs, to estimate the incidence of the most common AIBDs, and to examine their temporal trends in Central Serbia over a period of 20 years...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/27767269/inzidenz-von-bull%C3%A3-sen-autoimmunerkrankungen-in-serbien-eine-retrospektive-studie-%C3%A3-ber-20%C3%A2-jahre
#20
Mirjana Milinković, Slavenka Janković, Ljiljana Medenica, Miloš Nikolić, Vesna Reljić, Svetlana Popadić, Janko Janković
HINTERGRUND UND ZIELE: Die meisten früheren Arbeiten zu den klinisch-epidemiologischen Merkmalen von bullösen Autoimmunerkrankungen (AIBD) konzentrierten sich vor allem auf eine einzige Krankheitsentität oder nur eine Krankheitsgruppe; nur in wenigen Studien wurde die Inzidenz verschiedener AIBD untersucht. Bei der vorliegenden Studie war es unser Ziel, das gesamte Spektrum der AIBD zu betrachten, die Inzidenz der häufigsten AIBD zu ermitteln und die zeitlichen Trends ihres Auftretens in Zentralserbien über einen Zeitraum von 20 Jahren zu untersuchen...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
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