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Epidermolysis bullosa

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https://www.readbyqxmd.com/read/28640738/evaluation-of-the-effect-and-mechanism-of-action-of-local-phenytoin-in-treatment-of-vitiligo
#1
Asmaa Gaber Abdou, Mohammed Abdelwahed Gaber, Nada Farag Elnaidany, Ayat Elnagar
There are many theories explaining vitiligo such as genetic, autoimmune, neural, free radicals, biochemical, intrinsic defect, melanocytorrhagy and convergent theories. Phenytoin is a widely used anticonvulsant, which is used in cutaneous medicine for treatment of ulcers and epidermolysis bullosa. The aim of this study is to assess the effectiveness of topical phenytoin gel in treatment of vitiligo patients and explaining the underlying mechanism using immunohistochemistry for evaluation of HMB45, CD4 and CD8...
June 22, 2017: Journal of Immunoassay & Immunochemistry
https://www.readbyqxmd.com/read/28632473/a-rare-occurrence-of-epidermolysis-bullosa-acquisita-in-a-patient-with-retroviral-disease
#2
Zambare Uddhao, Chhonkar Aditi, Nayak Chitra, Tambe Swagata
Epidermolysis bullosa acquisita is a chronic subepidermal blistering disease associated with autoimmunity to type-VII collagen within anchoring fibrils located at the dermo-epidermal junction. This entity is rarely reported from India. It can have a variety of presentations. Its occurrence with retroviral disease has rarely been reported. Here, we present a case of epidermolysis bullosa acquisita in a patient with HIV infection.
January 1, 2017: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/28627382/bpag1-a-distinctive-role-in-skin-and-neurological-diseases
#3
REVIEW
Arshad Ali, Lifang Hu, Fan Zhao, Wuxia Qiu, Pai Wang, Xiaoli Ma, Yan Zhang, Lei Chen, Airong Qian
Spectraplakins are multifunctional cytoskeletal linker proteins that act as important communicators, connecting cytoskeletal components with each other and to cellular junctions. Bullous pemphigoid antigen 1 (BPAG1)/dystonin is a member of spectraplakin family and expressed in various tissues. Alternative splicing of BPAG1 gene produces various isoforms with unique structure and domains. BPAG1 plays crucial roles in numerous biological processes, such as cytoskeleton organization, cell polarization, cell adhesion, and cell migration as well as signaling transduction...
June 13, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28615054/end-stage-kidney-disease-in-patient-with-epidermolysis-bullosa-what-are-the-treatment-options-case-report
#4
Michał Małecki, Maciej Domański, Kazimierz Ciechanowski
BACKGROUND: Epidermolysis bullosa is a group of diseases caused by mutations in genes for proteins responsible for cells' anchorage at the dermo-epidermal junction. Their common feature are dysfunctional or even absent connections between cells. The typical clinical sign is the formation of blisters, with possible excessive scarring, in response to minimal skin irritation. End stage renal disease may be one of the comorbidities in patients with epidermolysis bullosa. The implementation of renal replacement therapy may be very difficult in this population...
June 14, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28611842/betulin-based-oleogel-to-improve-wound-healing-in-dystrophic-epidermolysis-bullosa-a-prospective-controlled-proof-of-concept-study
#5
Agnes Schwieger-Briel, Dimitra Kiritsi, Christoph Schempp, Cristina Has, Hauke Schumann
INTRODUCTION: Skin fragility and recurrent wounds are hallmarks of hereditary epidermolysis bullosa (EB). Treatment options to accelerate wound healing are urgently needed. Oleogel-S10 contains a betulin-rich triterpene extract from birch bark. In this study, we tested the wound healing properties of topical Oleogel-S10 in patients with dystrophic EB. METHODS: We conducted an open, blindly evaluated, controlled, prospective phase II pilot trial in patients with dystrophic EB (EudraCT number 2010-019945-24)...
2017: Dermatology Research and Practice
https://www.readbyqxmd.com/read/28599695/junctional-epidermolysis-bullosa-non-herlitz-type
#6
Munir Ahmad Bhinder, Muhammad Waqar Arshad, Muhammad Yasir Zahoor, Wasim Shehzad, Muhammad Tariq, Muhammad Imran Shabbir
Junctional epidermolysis bullosa (JEB) is a recessively inherited skin blistering disease and is caused due to abnormalities in proteins that hold layers of the skin. Herlitz JEB is the severe form and non-Herlitz JEB is the milder form. This report describes a case of congenitally affected male child aged 5 years, with skin blistering. He has mitten-like hands and soft skin blistering on hands, legs and knees. Symptoms almost disappeared at the age of 3 years but reappeared with increased severity after 6 months...
May 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28592171/next-generation-human-skin-constructs-as-advanced-tools-for-drug-development
#7
H E Abaci, Zongyou Guo, Yanne Doucet, Joanna Jacków, Angela Christiano
Many diseases, as well as side effects of drugs, manifest themselves through skin symptoms. Skin is a complex tissue that hosts various specialized cell types and performs many roles including physical barrier, immune and sensory functions. Therefore, modeling skin in vitro presents technical challenges for tissue engineering. Since the first attempts at engineering human epidermis in 1970s, there has been a growing interest in generating full-thickness skin constructs mimicking physiological functions by incorporating various skin components, such as vasculature and melanocytes for pigmentation...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28587212/manufacturing-of-human-extracellular-vesicle-based-therapeutics-for-clinical-use
#8
Mario Gimona, Karin Pachler, Sandra Laner-Plamberger, Katharina Schallmoser, Eva Rohde
Extracellular vesicles (EVs) derived from stem and progenitor cells may have therapeutic effects comparable to their parental cells and are considered promising agents for the treatment of a variety of diseases. To this end, strategies must be designed to successfully translate EV research and to develop safe and efficacious therapies, whilst taking into account the applicable regulations. Here, we discuss the requirements for manufacturing, safety, and efficacy testing of EVs along their path from the laboratory to the patient...
June 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28581214/a-new-clinical-diagnostic-matrix-for-epidermolysis-bullosa
#9
J A McGrath
No abstract text is available yet for this article.
June 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28576738/monoallelic-large-intragenic-krt5-deletions-account-for-genetically-unsolved-cases-of-epidermolysis-bullosa-simplex
#10
Cristina Has, Hauke Schumann, Juna Leppert, Yinghong He, Britta Hartmann, Ingrid Hausser, Jürgen Kohlhase
No abstract text is available yet for this article.
May 30, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28576735/the-syk-tyrosine-kinase-is-required-for-skin-inflammation-in-an-in-vivo-mouse-model-of-epidermolysis-bullosa-acquisita
#11
Tamás Németh, Oana Virtic, Cassian Sitaru, Attila Mócsai
The inflammatory form of epidermolysis bullosa acquisita is caused by autoantibodies against type VII collagen (C7), a component of the dermal-epidermal junction. We have previously shown that myeloid Src-family kinases mediate skin inflammation triggered by anti-C7 antibodies. Here we identify the Syk tyrosine kinase as a critical component of autoantibody-induced skin inflammation downstream of Src-family kinases. Immobilized C7-anti-C7 immune complexes triggered neutrophil activation and Syk phosphorylation in a Src-family kinase-dependent manner...
May 30, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28561874/a-review-of-52-pedigrees-with-epidermolysis-bullosa-simplex-identifying-ten-novel-mutations-in-krt5-and-krt14-in-australia
#12
Emma N Kim, Adam G Harris, Linda J Bingham, Wenfei Yan, John C Su, Dedee F Murrell
Epidermolysis bullosa simplex (EBS) is a rare heritable skin fragility disorder, most commonly caused by dominant mutations in KRT5 and KRT14. EBS shows clinical heterogeneity with localised, intermediate and generalised severe forms, which tend to correlate with the location and nature of the disease causing mutations. We therefore aimed to identify the KRT5 and KRT14 mutations in patients diagnosed with EBS in Australia, and explore in depth the genotype to the phenotype correlations in patients with novel variants...
May 31, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28561256/lack-of-k140-immunoreactivity-in-junctional-epidermolysis-bullosa-skin-and-keratinocytes-associates-with-misfolded-laminin-egf-like-le-motif-2-of-the-%C3%AE-3-short-arm
#13
A G Condorelli, P Fortugno, F Cianfarani, V Proto, G Di Zenzo, B Didona, G Zambruno, D Castiglia
Recessive mutations in the LAMA3A, LAMB3 and LAMC2 genes coding for laminin-332 (α3aβ3γ2) chains cause different junctional epidermolysis bullosa (JEB) subtypes. Biallelic truncating mutations in any of the three genes usually lead to lack of protein expression resulting in the severe generalized JEB subtype, while missense or splicing mutations in at least one allele lead to reduced expression typical of generalized intermediate or localized JEB. Here, we molecularly characterized an adult JEB patient showing negative skin staining for the anti-β3 chain mAb K140...
May 31, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28558912/epidermolysis-bullosa-simplex-caused-by-distal-truncation-of-bpag1-e-an-intermediate-generalized-phenotype-with-prurigo-papules
#14
Iana Turcan, Anna M G Pasmooij, Antoni Gostyński, Peter C van den Akker, Henny H Lemmink, Gilles F H Diercks, Hendri H Pas, Richard J Sinke, Marcel F Jonkman
No abstract text is available yet for this article.
May 27, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28557647/epidermolysis-bullosa-with-pyloric-atresia-and-aplasia-cutis-in-a-newborn-due-to-homozygous-mutation-in-itgb4
#15
Gozdem Kayki, Davut Bozkaya, Fatih Ozaltin, Diclehan Orhan, Figen Kaymaz, Emine Korkmaz, Sule Yigit
BACKGROUND: Epidermolysis bullosa with pyloric atresia (EB-PA) is an autosomal recessive disorder due to mutations in ITGA6 and/or ITGB4, resulting in altered expression of α6β4 integrin. EB-PA can also occur with aplasia cutis. CASE REPORT: We present a newborn with EB-PA and aplasia cutis, born of consanguineous parents, with a homozygous c.3793+1G>A mutation affecting ITGB4, previously described only in the heterozygous state with other mutations. CONCLUSION: The previously unreported homozygous c...
May 30, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28549954/amlexanox-enhances-premature-termination-codon-read-through-in-col7a1-and-expression-of-full-length-type-vii-collagen-potential-therapy-for-recessive-dystrophic-epidermolysis-bullosa
#16
Velina S Atanasova, Qiujie Jiang, Marco Prisco, Christina Gruber, Josefina Piñón Hofbauer, Mei Chen, Cristina Has, Leena Bruckner-Tuderman, John A McGrath, Jouni Uitto, Andrew P South
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis. 46% of RDEB patients harbor at least one premature termination codon (PTC) mutation in COL7A1 and previous studies have shown that aminoglycosides are able to overcome RDEB PTC mutations by inducing "read-through" and incorporation of an amino acid at the PTC site...
May 23, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28532758/the-kelch-surprise-klhl24-%C3%A2-a%C3%A2-new%C3%A2-player-in-the-pathogenesis-of%C3%A2-skin-fragility
#17
Cristina Has
A new protein, kelch-like 24, has recently been associated with a distinct subtype of epidermolysis bullosa simplex, a heterogeneous group of disorders associated with mechanical fragility of epidermal keratinocytes. All mutations involve the translation initiation codon and lead to a degradation-resistant N-terminally truncated kelch-like 24. Kelch-like 24 appears to be involved in the turnover of intermediated filaments, in particular of keratin 14, in keratinocytes.
June 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28525403/genetic-diseases-associated-with-an-increased-risk-of-skin-cancer-development-in-childhood
#18
Alexander L Fogel, Kavita Y Sarin, Joyce M C Teng
PURPOSE OF REVIEW: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. RECENT FINDINGS: In basal cell nevus syndrome (BCNS), the patched2 (PTCH2) and suppressor of fused (SUFU) genes have been implicated in disease pathogenesis...
May 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28523885/intraepidermal-type-vii-collagen-by-immunofluorescence-mapping-a-specific-finding-for-bullous-dermolysis-of-the-newborn
#19
Gillian Heinecke, M Peter Marinkovich, Kerri E Rieger
BACKGROUND: Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa (DEB) characterized by skin fragility and blister formation at birth that typically resolves within the first year of life. Abnormal intraepidermal retention of type VII collagen (C7) has been reported as a characteristic feature of BDN, but few studies have investigated the specificity of this finding. METHODS: We retrospectively reviewed pathology reports of patients diagnosed with DEB using immunofluorescence mapping from January 2001 to January 2015...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28507931/tranilast-can-be-a-useful-addition-to-the-limited-anti-epidermolysis-bullosa-weaponry
#20
Mohammad Mahdi Parvizi, Mohammad Reza Namazi
No abstract text is available yet for this article.
April 2017: Advanced Pharmaceutical Bulletin
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