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Hui Fang, Yang Zhang, Ning Li, Gang Wang, Zhi Liu
Bullous pemphigoid (BP) is an autoimmune and inflammatory skin disease associated with subepidermal blistering and autoantibodies directed against the hemidesmosomal components BP180 and BP230. Animal models of BP were developed by passively transferring anti-BP180 IgG into mice, which recapitulates the key features of human BP. By using these in vivo model systems, key cellular and molecular events leading to the BP disease phenotype are identified, including binding of pathogenic IgG to its target, complement activation of the classical pathway, mast cell degranulation, and infiltration and activation of neutrophils...
2018: Frontiers in Immunology
Milad Modabber, Mona Harissi-Dagher
No abstract text is available yet for this article.
March 15, 2018: Ocular Immunology and Inflammation
Yousheng Yan, Zhaoyan Meng, Shengju Hao, Fang Wang, Xiaohua Jin, Daguang Sun, Huafang Gao, Xu Ma
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is an inherited skin disorder with variable severity and heterogeneous genetic involvement. Recessive DEB (RDEB) is a rare heritable blistering skin condition caused by loss-of-function mutations in the COL7A1 gene. AIM: This study aimed to determine the genetic basis of three Chinese RDEB patients from different families and identify correlations between phenotype and genotype. METHODS: All three patients were diagnosed with RDEB based on typical phenotype...
January 2018: Annals of Clinical and Laboratory Science
M Sawada, T Hida, H Ujiie, H Iwata, H Uhara
Epidermolysis bullosa acquisita (EBA) and anti-p200 pemphigoid are uncommon subepidermal autoimmune bullous diseases caused by autoantibodies against the 200-kDa protein and 290-kDa type VII collagen, respectively. Here we describe a patient with autoantibodies against both 200-kDa and 290-kDa antigens.A 63-year-old-man had itchy tense blisters and edematous erythemas scattered on his trunk, buttocks, extremities and soles (Fig. 1a). There were no ocular or mucosal lesions. Psoriatic skin lesions were not observed...
March 10, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Aniek Lamberts, H Ilona Euverman, Jorrit B Terra, Marcel F Jonkman, Barbara Horváth
Introduction: Rituximab (RTX) is a monoclonal antibody targeting CD20, a transmembrane protein expressed on B cells, causing B cell depletion. RTX has shown great efficacy in studies of pemphigus vulgaris, but data of pemphigoid diseases are limited. Objective: To assess the effectiveness and safety of RTX in pemphigoid diseases. Methods: The medical records of 28 patients with pemphigoid diseases that were treated with RTX were reviewed retrospectively...
2018: Frontiers in Immunology
Rahul Mahajan, Shamsudheen Karuthedath Vellarikkal, Sanjeev Handa, Ankit Verma, Rijith Jayarajan, Anoop Kumar, Dipankar De, Jaswinder Kaur, Inusha Panigrahi, Vineeth VSl, Sridhar Sivasubbu, Vinod Scaria
Epidermolysis Bullosa (EB) encompasses a number of genetic conditions caused by mutations in genes involved in the formation of basement membrane resulting in blistering of the epidermis on trauma or pressure. At least 18 genes and 30 distinct subtypes of the disease are presently known[1]. Here-in, we report two un-related children with recessive dystrophic EB (RDEB) with novel compound heterozygous variations in collagen VII, one of whom had a fatal outcome and the other with a better sequel. This article is protected by copyright...
March 6, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Yun-Zhu Mu, Zi-Cen Du, Zheng-Zhong Zhang, Hao Yang, Xing Chen, Yanbo Wang, Lin-Li Liu
Distrophic epidermolysis bullosa pruriginosa(DEB-Pr, OMIM#604129) is a rare subtype of epidermolysis bullosa dystrophica. It is characterized by recurrent vesicles and erosions on the extensor of the limbs at birth or shortly thereafter and pruriginosa papules and nodules accompanied with intense itching and nail dystrophy in adult stage1 . Histology reveals hyperkeratosis, mild acanthosis and a subepidermal blister formation2 . Electron microscopic studies showed alterations in the number and ultrastructure of anchoring fibrils in lesional, perilesional and non-lesional skin3 ...
March 6, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Gordon I Hale, Marta C Cohen, Oliver W Quarrell, John A McGrath, Andrew G Messenger
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of EB which is characterized by intense pruritus with blistering and nodular or lichenoid lesions most prominent on the lower extremities. It is caused by variants in COL7A1 which encodes for type VII collagen. There is wide phenotypic and genotypic variability between affected individuals. We report 2 potentially pathogenic variants in COL7A1 occurring on the same allele in a family with EBP and autosomal dominant inheritance. Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants...
January 1, 2018: Pediatric and Developmental Pathology
Takuji Masunaga, Akiharu Kubo, Akira Ishiko
Dystrophic epidermolysis bullosa (DEB), pretibial, a rare subtype of epidermolysis bullosa (EB), is characterized by recurrent blisters and erosions predominantly on the pretibial region. We report the case of a 60-year-old Japanese woman with persistent blistering eruptions and scar formation on the pretibial region and elbows. Mutational analysis revealed a previously reported c.5797C>T mutation in exon 70 (p.R1933X) and a novel c.6348+1G>A mutation in intron 76 of COL7A1. Reverse transcription polymerase chain reaction revealed that the c...
March 3, 2018: Journal of Dermatology
Patrícia Santos, Carolina Simões, João Lopes, Luís Carrilho Ribeiro, José Velosa
No abstract text is available yet for this article.
February 27, 2018: Gastroenterología y Hepatología
Unni K Samavedam, Nina Mitschker, Anika Kasprick, Katja Bieber, Enno Schmidt, Tamás Laskay, Andreas Recke, S Goletz, Gestur Vidarsson, Franziska S Schulze, Mikko Armbrust, Katharina Schulze Dieckhoff, Hendri H Pas, Marcel F Jonkman, Kathrin Kalies, Detlef Zillikens, Yask Gupta, Saleh M Ibrahim, Ralf J Ludwig
Because of the morbidity and limited therapeutic options of autoimmune diseases, there is a high, and thus far, unmet medical need for development of novel treatments. Pemphigoid diseases, such as epidermolysis bullosa acquisita (EBA), are prototypical autoimmune diseases that are caused by autoantibodies targeting structural proteins of the skin, leading to inflammation, mediated by myeloid cells. To identify novel treatment targets, we performed cutaneous genome-wide mRNA expression profiling in 190 outbred mice after EBA induction...
2018: Frontiers in Immunology
Jannie M B Sand, Patricia Lamy, Pernille Juhl, Anne Sofie Siebuhr, Line V Iversen, Arkadiusz Nawrocki, Martin R Larsen, Robyn T Domsic, Nathalie Franchimont, Juan Chavez, Morten A Karsdal, Diana J Leeming
Type VII collagen is the main component of the anchoring fibrils connecting the basement membrane to the underlying interstitial matrix. Mutations in the type VII collagen gene cause dystrophic epidermolysis bullosa. Increased levels of type VII collagen in the skin have been reported in patients with systemic sclerosis (SSc), whereas reduced levels in the airways have been related to asthma. This indicates that type VII collagen plays an important part in upholding tissue integrity and that its remodeling may lead to pathological states...
March 1, 2018: Assay and Drug Development Technologies
A H Saeidian, L Youssefian, M G Moreno Trevino, G Fortuna, H Vahidnezhad, V S Atanasova, J Uitto, J C Salas-Alanis, A P South
Recessive dystrophic epidermolysis bullosa (RDEB; OMIM #226600) is one of the most devastating subtypes of epidermolysis bullosa, a group of skin and mucous membrane blistering disorders often associated with extracutaneous manifestations. RDEB is caused by mutations in COL7A1, the gene encoding type VII collagen (C7), and to date over 700 different mutations in the 8835 nucleotides constituting the open reading frame or adjacent exon-intron boundaries of COL7A1 have been described. We used targeted next-generation sequencing to identify seven previously unreported mutations in a cohort of 17 Mexican patients who were diagnosed with RDEB based on clinical presentation and immunoepitope mapping...
February 23, 2018: Clinical and Experimental Dermatology
Peter C van den Akker, Anna M G Pasmooij, Hans Joenje, Robert M W Hofstra, Gerard J Te Meerman, Marcel F Jonkman
Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable blistering disorders caused by mutations in the genes encoding epidermal adhesion proteins. Moreover, revertant mosaicism appears to be present in all patients with a specific subtype of recessive epidermolysis bullosa. We therefore hypothesized that revertant mosaicism should be expected at least in all patients with recessive forms of epidermolysis bullosa...
2018: PloS One
Francisco Romero Pastrana, Jolanda Neef, Dennis G A M Koedijk, Douwe de Graaf, José Duipmans, Marcel F Jonkman, Susanne Engelmann, Jan Maarten van Dijl, Girbe Buist
Human antibody responses to pathogens, like Staphylococcus aureus, are important indicators for in vivo expression and immunogenicity of particular bacterial components. Accordingly, comparing the antibody responses to S. aureus components may serve to predict their potential applicability as antigens for vaccination. The present study was aimed at assessing immunoglobulin G (IgG) responses elicited by non-covalently cell surface-bound proteins of S. aureus, which thus far received relatively little attention...
February 19, 2018: Scientific Reports
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
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
A J Carmichael, K E Harman
No abstract text is available yet for this article.
February 2018: British Journal of Dermatology
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
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
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