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Epidermolysis bullosa

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https://www.readbyqxmd.com/read/29679399/inherited-epidermolysis-bullosa-new-diagnostics-and-new-clinical-phenotypes
#1
Cristina Has, Judith Fischer
Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from severe cutaneous and extracutaneous involvement caused by lack of key adhesion proteins, to mild cutaneous fragility caused by subtle molecular defects. Disease-causing variants in 20 different genes account for the genetic and allelic heterogeneity of EB. Here we discuss the development of laboratory methods that enabled these discoveries and the clinical and molecular features of some new EB entities elucidated during the past 5-6 years...
April 20, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29653141/dual-mechanism-of-type-vii-collagen-transfer-by-bone-marrow-mesenchymal-stem-cell-extracellular-vesicles-to-recessive-dystrophic-epidermolysis-bullosa-fibroblasts
#2
Jeffrey McBride, Luis Rodriguez-Menocal, Ambar Candanedo, Wellington Guzman, Marta Garcia-Contreras, Evangelos Badiavas
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering disease resulting from a lack of type VII collagen production. Recent clinical trials have shown efficacy of bone marrow-derived mesenchymal stem cells (BM-MSCs) in the treatment of epidermolysis bullosa, including improved basement membrane restructuring and cutaneous wound healing. The mechanism as to how type VII collagen is transferred from donor stem cell to recipient RDEB cells has not been defined. Here, we submit the model that BM-MSC-derived extracellular vesicles serve at least two roles: 1) to help transport type VII collagen within the extracellular space; and 2) to feed RDEB fibroblasts with messenger RNA that codes for type VII collagen, resulting in COL7A1 translation and synthesis of type VII collagen alpha chain proteins by RDEB fibroblasts...
April 10, 2018: Biochimie
https://www.readbyqxmd.com/read/29648915/response-to-modabber-and-harissi-dagher-s-letter-type-1-boston-keratoprosthesis-for-limbal-stem-cell-deficiency-in-epidermolysis-bullosa
#3
N Geetha Sravani, Ashik Mohamed, Virender S Sangwan
No abstract text is available yet for this article.
April 12, 2018: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/29627521/epidermolysis-bullosa-molecular-pathology-of-connective-tissue-components-in-the-cutaneous-basement-membrane-zone
#4
REVIEW
Cristina Has, Alexander Nyström, Amir Hossain Saeidian, Leena Bruckner-Tuderman, Jouni Uitto
Epidermolysis bullosa (EB), a group of heritable skin fragility disorders, is characterized by blistering, erosions and chronic ulcers in the skin and mucous membranes. In some forms, the blistering phenotype is associated with extensive mutilating scarring and development of aggressive squamous cell carcinomas. The skin findings can be associated with extracutaneous manifestations in the ocular as well as gastrointestinal and vesico-urinary tracts. The phenotypic heterogeneity reflects the presence of mutations in as many as 20 different genes expressed in the cutaneous basement membrane zone, and the types and combinations of the mutations and their consequences at the mRNA and protein levels contribute to the spectrum of severity encountered in different subtypes of EB...
April 5, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29619029/anti-type-vii-collagen-antibodies-are-identified-in-a-subpopulation-of-bullous-pemphigoid-patients-with-relapse
#5
Delphine Giusti, Grégory Gatouillat, Sébastien Le Jan, Julie Plée, Philippe Bernard, Frank Antonicelli, Bach-Nga Pham
Bullous pemphigoid (BP) is an autoimmune bullous skin disease characterized by anti-BP180 and anti-BP230 autoantibodies (AAbs). Mucous membrane involvement is an uncommon clinical feature of BP which may evoke epidermolysis bullosa acquisita, another skin autoimmune disease characterized by anti-type VII collagen AAbs. We therefore evaluated the presence of anti-type VII collagen AAbs in the serum of BP patients with and without mucosal lesions at time of diagnosis and under therapy. Anti-BP180, anti-BP230, and anti-type VII collagen AAbs were measured by ELISA in the serum of unselected patients fulfilling clinical and histo/immunopathological BP criteria at baseline ( n  = 71) and at time of relapse ( n  = 24)...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29616034/specific-inhibition-of-complement-activation-significantly-ameliorates-autoimmune-blistering-disease-in-mice
#6
Sidonia Mihai, Misa Hirose, Yi Wang, Joshua M Thurman, V Michael Holers, B Paul Morgan, Jörg Köhl, Detlef Zillikens, Ralf J Ludwig, Falk Nimmerjahn
Epidermolysis bullosa acquisita (EBA) is an antibody-mediated blistering skin disease associated with tissue-bound and circulating autoantibodies to type VII collagen (COL7). Transfer of antibodies against COL7 into mice results in a subepidermal blistering phenotype, strictly depending on the complement component C5. Further, activation predominantly by the alternative pathway is required to induce experimental EBA, as blistering was delayed and significantly ameliorated only in factor B-/- mice. However, C5 deficiency not only blocked the activation of terminal complement components and assembly of the membrane attack complex (MAC) but also eliminated the formation of C5a...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29607617/a-novel-heterozygous-missense-mutation-of-dsp-in-a-chinese-han-pedigree-with-palmoplantar-keratoderma
#7
Ke Xue, Yajie Zheng, Yong Cui
BACKGROUND: Mutations in the desmoplakin (DSP) gene have been demonstrated to be associated with lethal acantholytic epidermolysis bullosa, cardiomyopathy, and palmoplantar keratoderma (PPK). AIMS: To better understand the relationship between PPK and the gene mutations in DSP. METHODS: A pedigree of PPK was subjected to heterozygous missense mutation analysis in the DSP gene. Dermoscopy, reflectance confocal microscopy, and histopathological examination were performed from each epidermis layer in this study...
April 1, 2018: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/29604201/discrepancies-in-the-evaluation-of-incapacity-for-work-in-a-patient-with-epidermolysis-bullosa-acquisita-between-public-pension-fund-and-occupational-medicine-expert-raise-the-issue-of-competencies
#8
Hrvoje Lalić
Abstrat A 50-year-old female patient suffering from a severe form of epidermolysis bullosa acquisita (EBA) took legal action against the Croatian Pension Insurance Institute (CPII) in an attempt to overturn their assessment that she was no longer capable of working as a seamstress but still capable of doing administrative jobs. Her claim was that she was not capable of doing any job at all. She was first diagnosed EBA in 2000, and the disease progressed slowly with intermittent remissions. In 2012, skin erosions appeared on her feet, followed by the loss of all toenails and lesions and infiltrations on the tongue and oral mucosa...
March 1, 2018: Arhiv za Higijenu Rada i Toksikologiju
https://www.readbyqxmd.com/read/29604146/life-before-and-beyond-blistering-the-role-of-collagen-xvii-in-epidermal-physiology
#9
REVIEW
Ken Natsuga, Mika Watanabe, Wataru Nishie, Hiroshi Shimizu
Type XVII collagen (COL17) is a transmembranous protein that is mainly expressed in the epidermal basal keratinocytes. Epidermal-dermal attachment requires COL17 expression at the hemidesmosomes of the epidermal basement membrane zone because congenital COL17 deficiency leads to junctional epidermolysis bullosa and acquired autoimmunity to COL17 induces bullous pemphigoid. Recently, in addition to facilitating epidermal-dermal attachment, COL17 has been reported to serve as a niche for hair follicle stem cells, to regulate proliferation in the interfollicular epidermis and to be present along the non-hemidesmosomal plasma membrane of epidermal basal keratinocytes...
March 31, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29593249/inside-out-regenerative-medicine-for-recessive-dystrophic-epidermolysis-bullosa
#10
REVIEW
Michael Vanden Oever, Kirk Twaroski, Mark J Osborn, John E Wagner, Jakub Tolar
Epidermolysis bullosa is classified as a genodermatosis, an inherited genetic skin disorder that results in severe, chronic skin blistering with painful and life-threatening complications. Although there is currently no cure for epidermolysis bullosa, concurrent advances in gene and stem cell therapies are converging toward combinatorial therapies that hold the promise of clinically meaningful and lifelong improvement. Recent studies using hematopoietic stem cells and mesenchymal stromal/stem cells to treat epidermolysis bullosa have demonstrated the potential for sustained, effective management of the most severe cases...
January 2018: Pediatric Research
https://www.readbyqxmd.com/read/29574966/burnlike-scars-a-sign-suggestive-of-klhl24-related-epidermolysis-bullosa-simplex
#11
Azzam Alkhalifah, Christine Chiaverini, Alexandra Charlesworth, Cristina Has, Jean-Philippe Lacour
Epidermolysis bullosa simplex is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT5 and KRT14 underlie the majority of reported cases. Mutations in KLHL24, a gene that encodes KLHL24 protein, have been reported recently to cause a generalized subtype of epidermolysis bullosa simplex, presumably by increasing the degradation of keratin 14. We describe a case of KLHL24-related epidermolysis bullosa simplex and highlight the burn-like pattern of scars...
March 25, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29568501/advances-in-understanding-the-molecular-basis-of-skin-fragility
#12
REVIEW
Cristina Has
Skin fragility refers to a large group of conditions in which the ability of the skin to provide protection against trivial mechanical trauma is diminished, resulting in the formation of blisters, erosions, wounds, or scars. Acquired and physiological skin fragility is common; genetic disorders are rare but give insight into the molecular mechanisms ensuring skin stability. The paradigm is represented by inherited epidermolysis bullosa. This review is focused on recent advances in understanding the molecular basis of genetic skin fragility, including emerging concepts, controversies, unanswered questions, and opinions of the author...
2018: F1000Research
https://www.readbyqxmd.com/read/29568175/management-of-a-granulomatous-lesion-in-a-patient-with-kindler-s-syndrome
#13
Anuradha Bhatsange, Yugandhara Khadse, Sabina Deshmukh, Swapnil Karwa
Kindler's syndrome is a rare vesiculobullous dermatological disorder sometimes involving multiple organs. First described by Kindler. The differential diagnosis includes Rothmund-Thomson syndrome and epidermolysis bullosa. Fisher's criteria have simplified the diagnosis with major and minor criteria. Oral manifestation of this syndrome includes multiple painful oral ulcers in the mucosa, periodontal attachment loss, gingival bleeding, and fragile mucosa. These manifestations may impair proper nutrition intake, may cause growth and development problems...
January 2018: Journal of Indian Society of Periodontology
https://www.readbyqxmd.com/read/29567352/mechanical-forces-in-skin-disorders
#14
REVIEW
Chao-Kai Hsu, Hsi-Hui Lin, Hans I-Chen Harn, Michael W Hughes, Ming-Jer Tang, Chao-Chun Yang
Mechanical forces are known to regulate homeostasis of the skin and play a role in the pathogenesis of skin diseases. The epidermis consists of keratinocytes that are tightly adhered to each other by cell junctions. Defects in keratins or desmosomal/hemidesmosomal proteins lead to the attenuation of mechanical strength and formation of intraepidermal blisters in the case of epidermolysis bullosa simplex. The dermis is rich in extracellular matrix, especially collagen, and provides the majority of tensile force in the skin...
March 8, 2018: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29566927/blistering-diseases-in-the-mature-patient
#15
Ines Lakoš Jukić, Sandra Jerković Gulin, Branka Marinović
Autoimmune blistering diseases (AIBD) are a group of chronic diseases affecting the skin and mucous membranes, with different presentation, clinical course, histologic and immunopathologic findings, and different therapeutic approach. Blisters develop as a result of autoantibodies directed against distinct adhesion structures within desmosomes or within the basement membrane zone. The most common AIBD that develops in the elderly is bullous pemphigoid (previously also named "pemphigoid senilis"), but mature patients can also present with other AIBD as mucous membrane pemphigoid, epidermolysis bullosa acquisita, paraneoplastic pemphigus, pemphigus vulgaris, pemphigus foliaceus, linear IgA dermatosis, and dermatitis herpetiformis...
March 2018: Clinics in Dermatology
https://www.readbyqxmd.com/read/29559343/neutrophil-adhesion-is-a-prerequisite-for-antibody-mediated-proteolytic-tissue-damage-in-experimental-epidermolysis-bullosa-acquisita
#16
Xinhua Yu, Reza Akbarzadeh, Mario Pieper, Thomas Scholzen, Stefanie Gehrig, Carsten Schultz, Detlef Zillikens, Peter König, Frank Petersen
Although uncontrolled proteolytic activity mediated by activated neutrophils is a major reason for tissue damage, therapeutic approaches using protease inhibitors are inefficient. Here, we investigated the role of the immune complex-induced neutrophil adhesion and protease release in tissue damage. We show both in vitro and in vivo that immune complex-mediated neutrophil adhesion to the target tissue depends on β2 integrins. Without affecting elastase or ROS release, blocking of adhesion drastically inhibited tissue damage in an experimental model of autoantibody-mediated skin blistering disease...
March 17, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29545809/the-autoimmune-skin-disease-bullous-pemphigoid-the-role-of-mast-cells-in-autoantibody-induced-tissue-injury
#17
REVIEW
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
https://www.readbyqxmd.com/read/29543561/letter-to-the-editor-type-1-boston-keratoprosthesis-for-limbal-stem-cell-deficiency-in-epidermolysis-bullosa
#18
Milad Modabber, Mona Harissi-Dagher
No abstract text is available yet for this article.
March 15, 2018: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/29531004/five-novel-col7a1-gene-mutations-in-three-chinese-patients-with-recessive-dystrophic-epidermolysis-bullosa
#19
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
https://www.readbyqxmd.com/read/29524251/a-case-of-subepidermal-autoimmune-bullous-disease-with-autoantibodies-against-200-kda-and-290-kda-antigens
#20
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
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