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https://www.readbyqxmd.com/read/29896749/-analysis-of-a-neonate-with-bullous-congenital-ichthyosiform-erythroderma-with-next-generation-sequencing
#1
Yuqiang Lyu, Chuankui Shi, Kaihui Zhang, Min Gao, Yi Liu
OBJECTIVE: To explore the genetic cause and clinical features of a neonate with bullous congenital ichthyosiform erythroderma. METHODS: The patient was examined thoroughly. Following the extraction of genomic DNA, next generation sequencing was performed to analyze the genetic cause. RESULTS: The patient manifested generalized erythema, blistering, and extensive exfoliation of the skin. A heterozygous missence 482T>G mutation was found in the first exon of KRT10 gene, which led to a p...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29894005/possible-roles-of-basophils-in-chronic-itch
#2
REVIEW
Takashi Hashimoto, Jordan D Rosen, Kristen M Sanders, Gil Yosipovitch
Basophils are blood granulocytes and normally constitute less than 1% of blood peripheral leukocytes. Basophils share some morphological and functional similarities with mast cells, and basophils were once regarded as redundant and negligible circulating mast cells. However, recent studies reveal the indispensable roles of basophils in various diseases, including allergic and pruritic diseases. Basophils may be involved in itch through the mediation of a Th2 immune response, interaction with other cells in the skin, and secretion of a wide variety of itch-related mediators, e...
June 12, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29881377/gliptin-accountability-in-mucous-membrane-pemphigoid-induction-in-24-out-of-313-patients
#3
Olivier Gaudin, Vannina Seta, Marina Alexandre, Gérôme Bohelay, Françoise Aucouturier, Sabine Mignot-Grootenboer, Saskia Ingen-Housz-Oro, Céline Bernardeschi, Pierre Schneider, Benoît Mellottee, Frédéric Caux, Catherine Prost-Squarcioni
Mucous membrane pemphigoids (MMPs) and bullous pemphigoid (BP) are autoimmune bullous diseases that share physiopathological features: both can result from autoantibodies directed against BP180 or BP230 antigens. An association has been reported between BP and intake of gliptins, which are dipeptidyl peptidase-IV inhibitors used to treat type 2 diabetes mellitus. Clinical and immunological differences have been reported between gliptin-induced BPs and classical BPs: mucosal involvement, non-inflammatory lesions, and target BP180 epitopes other than the NC16A domain...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29872681/utility-of-international-store-and-forward-teledermatopathology-among-a-cohort-of-mostly-female-patients-at-a-tertiary-referral-center-in-afghanistan
#4
A Ismail, J R McMichael, B K Stoff
Background: The variety and complexity of dermatologic diseases in Afghanistan and the associated diagnostic resource constraints have not been previously studied. Moreover, the utility of store-and-forward teledermatopathology in this resource-limited setting has not been investigated. Methods: A retrospective analysis was conducted of 150 store-and-forward teledermatopathology cases that were composed of a clinical history, clinical images, and histologic images that were sent from an academic teaching hospital in Kabul to a dermatology-trained dermatopathologist at Emory University in the United States between November 2013 and June 2017...
June 2018: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/29868591/high-index-values-of-enzyme-linked-immunosorbent-assay-for-bp180-at-baseline-predict-relapse-in-patients-with-bullous-pemphigoid
#5
Hiroshi Koga, Kwesi Teye, Norito Ishii, Chika Ohata, Takekuni Nakama
Bullous pemphigoid (BP) presenting with erythema plaques and tense blisters is the most frequent autoimmune bullous disease. Immunologically, BP is characterized by the presence of circulating anti-epidermal basement membrane zone (BMZ) antibodies. The autoantigens in BMZs targeted by patient's antibodies are mainly BP180 (type XVII collagen) and BP230. Previous reports have indicated that IgG to the immunodominant region of BP180 in BP, 16th non-collagenous domain (NC16A), and anti-BP180NC16A IgE are related to disease activity...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29867971/clinical-and-immunological-study-of-30-cases-with-both-igg-and-iga-anti-keratinocyte-cell-surface-autoantibodies-toward-the-definition-of-intercellular-igg-iga-dermatosis
#6
Takashi Hashimoto, Kwesi Teye, Koji Hashimoto, Katarzyna Wozniak, Daisuke Ueo, Sakuhei Fujiwara, Kazuhiro Inafuku, Yorihisa Kotobuki, Ines Lakos Jukic, Branka Marinović, Anna Bruckner, Daisuke Tsuruta, Tamihiro Kawakami, Norito Ishii
Several sporadic cases, in which direct and indirect immunofluorescence studies simultaneously detected IgG and IgA autoantibodies to keratinocyte cell surfaces, have been reported mainly under the name of IgG/IgA pemphigus. However, there have been no systematic studies for this condition. In this study, we collected 30 cases of this condition from our cohort of more than 5,000 autoimmune bullous disease cases, which were consulted for our diagnostic methods from other institutes, and summarized their clinical and immunological findings...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29866844/bp180-dysfunction-triggers-spontaneous-skin-inflammation-in-mice
#7
Yang Zhang, Bin-Jin Hwang, Zhen Liu, Ning Li, Kendall Lough, Scott E Williams, Jinbo Chen, Susan W Burette, Luis A Diaz, Maureen A Su, Shengxiang Xiao, Zhi Liu
BP180, also known as collagen XVII, is a hemidesmosomal component and plays a key role in maintaining skin dermal/epidermal adhesion. Dysfunction of BP180, either through genetic mutations in junctional epidermolysis bullosa (JEB) or autoantibody insult in bullous pemphigoid (BP), leads to subepidermal blistering accompanied by skin inflammation. However, whether BP180 is involved in skin inflammation remains unknown. To address this question, we generated a BP180-dysfunctional mouse strain and found that mice lacking functional BP180 (termed Δ NC16A ) developed spontaneous skin inflammatory disease, characterized by severe itch, defective skin barrier, infiltrating immune cells, elevated serum IgE levels, and increased expression of thymic stromal lymphopoietin (TSLP)...
June 4, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29843625/clinical-and-genetic-characterization-of-a-chanarin-dorfman-syndrome-patient-born-to-diseased-parents
#8
Murat Durdu, Sara Missaglia, Laura Moro, Daniela Tavian
BACKGROUND: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. CASE PRESENTATION: In this report, we describe a consanguineous Turkish family with typical features of CDS...
May 29, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29843231/tnf-%C3%AE-308g-a-gene-polymorphism-in-bullous-pemphigoid-and-alopecia-areata
#9
Hamideh Moravvej, Pardis-Sadat Tabatabaei-Panah, Elaheh Ebrahimi, Nafiseh Esmaeili, Sayyed Mohammad Hossein Ghaderian, Ralf J Ludwig, Reza Akbarzadeh
BACKGROUND: TNF-α -308G/A polymorphism has been investigated in few studies for an association with susceptibility to bullous pemphigoid (BP) and alopecia areata (AA). Yet, these findings had so far not been independently replicated, and no data on a possible association of TNFα -308G/A polymorphism with these diseases in Iranian population were available. OBJECTIVES: In the present study, a possible effect of TNF-α -308G/A variation on susceptibility to BP or AA disease was evaluated...
May 11, 2018: Human Antibodies
https://www.readbyqxmd.com/read/29793619/modes-of-action-of-intravenous-immunoglobulin-in-bullous-pemphigoid
#10
Ning Li, Donna Culton, Luis A Diaz, Zhi Liu
Bullous pemphigoid is an autoantibody-mediated skin blistering disease. Previous studies revealed that intravenous Ig is therapeutic in animal models of bullous pemphigoid by saturating the IgG-protective receptor FcRn, thereby accelerating degradation of pathogenic IgG. Sasaoka et al. demonstrate that the inhibitory effects of intravenous Ig on bullous pemphigoid are also associated with negative modulation of cytokine production by keratinocytes.
June 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29789102/an-update-on-drug-induced-oral-reactions
#11
Hila Yousefi, Mohammas Abdollahi
Adverse drug reactions (ADRs) are one of the major culprits in the development of oral lesions, which can be misdiagnosed with underlying diseases. The goal of this study is to summarize and update the current knowledge about drug-induced oral reactions. Electronic searches were performed in Scopus, Google Scholar, Cochrane and PubMed databases, for articles published between January 2008 and August 2017. Two authors screened the titles and abstracts for eligibility. Finally, 56 studies included in this review...
2018: Journal of Pharmacy & Pharmaceutical Sciences: a Publication of the Canadian Society for Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29789014/a-review-of-scoring-systems-for-ocular-involvement-in-chronic-cutaneous-bullous-diseases
#12
REVIEW
Brendon W H Lee, Jeremy C K Tan, Melissa Radjenovic, Minas T Coroneo, Dedee F Murrell
BACKGROUND: Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surface disease (OSD) may occur in both and require ophthalmological assessment. Disease scoring systems have a critical role in providing objective and accurate assessment of disease severity. The objectives of this report were, firstly, to document the prevalence and severity of ocular involvement in EB/AIBD...
May 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29787599/pathological-molecular-mechanism-of-symptomatic-late-onset-fuchs-endothelial-corneal-dystrophy-by-bioinformatic-analysis
#13
Zekai Cui, Qiaolang Zeng, Yonglong Guo, Shiwei Liu, Peiyuan Wang, Mengyuan Xie, Jiansu Chen
Fuchs endothelial corneal dystrophy (FECD) is a degenerative disease characterized by corneal endothelial decompensation. FECD causes corneal stromal and epithelial edema and progressively develops into bullous keratopathy, which can eventually lead to blindness. However, the exact pathogenesis is unknown. In this study, we performed an in-depth bioinformatic analysis of the dataset GSE74123 to determine the differentially expressed genes (DEGs) of symptomatic late-onset FECD compared with a normal control...
2018: PloS One
https://www.readbyqxmd.com/read/29782306/urticarial-lesions-in-a-pregnant-woman
#14
Sergio Santos-Alarcón, Cesar Benavente-Villegas, Isabel García-Briz, Magdalena Moneva-Léniz, Celia Sanchis-Sánchez, Almudena Mateu-Puchades
Dear Editor, Gestational pemphigoid (GP) is a rare autoimmune bullous dermatosis in pregnancy. GP usually occurs during the second or third month of pregnancy. It clinically manifests as the development of either early-onset urticarial lesions or late-onset subepidermal blisters that may linger for weeks or even months. Herein we report the case of a 45-year-old woman with the distinctive clinical onset of GP. A forty-five-year-old woman, gravida I, para 0, at 27 weeks gestation, was referred for evaluation to our Department with an extensive pruritic eruption that had developed over the previous 7 days...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29782303/clindamycin-induced-maculopapular-exanthema-with-preferential-involvement-of-striae-distensae-a-koebner-phenomenon
#15
Benigno Monteagudo, Miguel Cabanillas, Pilar Iriarte, Aquilina Ramírez-Santos, Elvira León-Muinos, Daniel González-Vilas, Óscar Suárez-Amor
Clindamycin is a lincomycin-derived antibiotic useful for the treatment of anaerobic and Gram-positive aerobic bacterial infections. Cutaneous adverse reactions are usually maculopapular exanthemas, although hypersensitivity syndrome, acute generalized exanthematous pustulosis, and Stevens-Johnson syndrome have also been reported (1). We report the case of a patient with a maculopapular rash triggered by clindamycin who developed cutaneous lesions on striae distensae (SD). A 47-year-old woman was referred to our clinic for pruritic cutaneous lesions which had started 6 days earlier...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29781748/pediatric-sloughing-esophagitis-a-case-report-and-discussion
#16
Lulu Sun, Christina A Hickey, Brendan R Harris, Horacio M Maluf, Mai He
BACKGROUND: Sloughing esophagitis is an uncommon entity with an unclear pathogenesis characterized by desquamating sheets of squamous mucosa. It has been associated with bullous dermatologic disorders, other autoimmune diseases and has been most commonly reported in elderly, debilitated individuals on multiple medications. CASE REPORT: We report sloughing esophagitis in a previously healthy 17 year-old girl. While the initial trigger of her esophagitis is unclear, she improved with proton pump inhibitor therapy and swallowed fluticasone, with complete resolution after 6 months...
May 21, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29780924/disseminated-nocardiosis-with-retinal-abscess-in-a-patient-treated-for-bullous-pemphigoid
#17
Sidharth Puri, Amir Hadayer, Andrea Breaux, Charles C Barr
Purpose: To report a case of disseminated Nocardiosis with retinal and intracranial lesions. Observations: A 49-year-old woman immunosuppressed because of treatment given for bullous pemphigoid presented with altered mental status and multiple intracranial lesions on imaging. The patient was found to have multiple retinal lesions in both eyes, including a subretinal abscess in the right eye. The patient underwent brain biopsy, confirming Nocardia farcinica histopathologically and in culture...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29778658/marijuana-and-lung-disease
#18
REVIEW
Donald P Tashkin
As marijuana smoking prevalence increases in the U.S. concern regarding its potential risks to lung health has also risen, given the general similarity in the smoke contents between marijuana and tobacco. Most studies have found a significant association between marijuana smoking and chronic bronchitis symptoms after adjustment for tobacco. While reports are mixed regarding associations between marijuana smoking and lung function, none has shown a relationship to decrements in forced expired volume in 1 sec (FEV1) and few have found a relationship to a decreased ratio of FEV1 to forced vital capacity (FVC), possibly related to an association between marijuana and an increased FVC...
May 17, 2018: Chest
https://www.readbyqxmd.com/read/29767490/kaposi-s-sarcoma-associated-with-localized-bullous-pemphigoid-two-conflicting-diseases
#19
Lucia Brambilla, Athanasia Tourlaki, Simona Tavecchio
No abstract text is available yet for this article.
August 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29760835/cutaneous-mucormycosis-following-a-bullous-pemphigoid-flare-in-a-chronic-lymphocytic-leukemia-patient-on-ibrutinib
#20
Matthew K Stein, Saradasri Karri, Jackson Reynolds, Jeff Owsley, Austin Wise, Mike G Martin, Fereshteh Zare
While the recent development of novel therapeutics in oncology, such as small molecule kinase inhibitors (SMKIs), has enabled our ability to target disease-specific molecular pathways, the prolonged impact of these agents on the immune system and infectious risk remains to be seen. We present a 68-year-old male with refractory chronic lymphocytic leukemia (CLL) on ibrutinib monotherapy for 3 years who developed extensive cutaneous mucormycosis following a severe bullous pemphigoid (BP) flare. He received amphotericin B for 4 weeks and was continued on posaconazole with resolution of his mucormycosis infection...
April 2018: World Journal of Oncology
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