Read by QxMD icon Read

Epidermolysis bullosa

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
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
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
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
Valeria Carolina Alvarez, Sini Tellervo Penttilä, Valeria Luján Salutto, Bjarne Udd, Claudio Gabriel Mazia
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disorder characterized by neonatal blistering and later-onset muscle weakness.
December 2016: Neurology. Genetics
Jeroen Bremer, Olivier Bornert, Alexander Nyström, Antoni Gostynski, Marcel F Jonkman, Annemieke Aartsma-Rus, Peter C van den Akker, Anna Mg Pasmooij
The "generalized severe" form of recessive dystrophic epidermolysis bullosa (RDEB-gen sev) is caused by bi-allelic null mutations in COL7A1, encoding type VII collagen. The absence of type VII collagen leads to blistering of the skin and mucous membranes upon the slightest trauma. Because most patients carry exonic point mutations or small insertions/deletions, most exons of COL7A1 are in-frame, and low levels of type VII collagen already drastically improve the disease phenotype, this gene seems a perfect candidate for antisense oligonucleotide (AON)-mediated exon skipping...
October 18, 2016: Molecular Therapy. Nucleic Acids
Armita Kakavand Hamidi, Mohammad Moghaddam, Nasim Hatamnejadian, Ahmad Ebrahimi
OBJECTIVES: Epidermolysis bullosa is one of the most important series of mechano-bullous heritable skin disorders which is categorized into four major types according to the layer that bullae forms within basement membrane zone. In dystrophic form of the disease, blisters are made in the sublamina densa zone, at the level of type VII collagen protein which produce anchoring fibrils. Type VII collagen gene is the only responsible gene for this form. The aim of this study was to survey causative mutations of type VII collagen gene among Iranian patients with epidermolysis bullosa...
August 2016: Iranian Journal of Basic Medical Sciences
Minhee Kim, Luca Borradori, Dédée F Murrell
Elderly patients are more susceptible to the development of autoimmune blistering disorders such as bullous pemphigoid, mucous membrane pemphigoid, epidermolysis bullosa acquisita, and paraneoplastic pemphigus. This article focuses on the clinical aspects of the aforementioned autoimmune blistering diseases and highlights the important factors involved in treating elderly patients. It is essential for clinicians to offer individualized treatment plans for these patients to optimize outcomes, as elderly patients often have multiple co-morbidities, polypharmacy, and suboptimal socioeconomic status that can adversely influence adequate compliance...
October 13, 2016: Drugs & Aging
Marion K Gordon, Andrea DeSantis-Rodrigues, Rita Hahn, Peihong Zhou, Yokechen Chang, Kathy K H Svoboda, Donald R Gerecke
Mustard exposures result in epithelial-stromal separations in the cornea and epidermal-dermal separations in the skin. Large blisters often manifest in skin, while the cornea develops microblisters, and, when enough form, the epithelium sloughs. If the exposure is severe, healing can be imperfect and can result in long-term adverse consequences. For the cornea, this could manifest as recurrent corneal erosions. Since the corneal epithelial-stromal separations are in the region identified by electron microscopy as the lamina lucida, the same region affected by the blistering disease junctional epidermolysis bullosa (JEB), we postulated that the molecules that are defective in JEB would be the same ones cleaved by mustard compounds...
August 2016: Annals of the New York Academy of Sciences
Yoshiko Kumagai, Noriko Umegaki-Arao, Takashi Sasaki, Yoshio Nakamura, Hayato Takahashi, Atsuko Ashida, Yuichiro Tsunemi, Makoto Kawashima, Atsushi Shimizu, Akira Ishiko, Koichiro Nakamura, Hayato Tsuchihashi, Masayuki Amagai, Akiharu Kubo
Epidermolysis bullosa simplex (EBS) with migratory circinate erythema (EBS-Migr, MIM 609352) is a rare subtype of EBS, which shows annularly spreading erythema with blister formation and subsequent pigmentation in the inner healed lesions. A heterozygous mutation of c.1649delG in KRT5 has been reported as a specific mutation causing EBS-Migr.(1,2) However, the identical mutation has been reported to cause another rare subtype of EBS, EBS with mottled pigmentation (EBS-MP, MIM 131960).(3-5) Here, we present two familial cases of EBS showing migratory circinate erythema in infancy but mottled pigmentation in the later stages of the disease...
October 12, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
N Malchin, O Sarig, M Grafi-Cohen, S Geller, I Goldberg, A Shani, A Gat, E Sprecher, J Mashiah
Epidermolysis bullosa simplex (EBS) is the most common form of EB. Eight different genes have been implicated in the pathogenesis of different types of EBS, but a substantial portion of the cases cannot be attributed to mutations in known genes. Recently, recessive mutations in the gene EXPH5 (encoding exophilin-5, also known as Slac2-b) were identified in patients affected with a mild form of EBS. We used immunohistochemistry, Sanger sequencing and PCR-restriction fragment length polymorphism analysis to identify the cause of mild congenital skin fragility in a 3-year-old girl...
October 11, 2016: Clinical and Experimental Dermatology
Monika Pesch, Sabrina König, Monique Aumailley
Genetic, clinical and biochemical studies have demonstrated that integrity of the dermal-epidermal junction requires a particular subset of laminins, i.e those containing the α3 chain encoded by the Lama3 gene. Inherited mutations in the human gene or introduction of constitutive mutations in the mouse gene prevent expression of these laminins, causing junctional epidermolysis bullosa, a very severe, often lethal disorder characterized by detachment of the epidermis from the dermis. This has precluded in vivo functional analysis of α3 chain-containing laminins and it is still unknown whether and how they contribute to adult skin homeostasis...
October 8, 2016: Journal of Investigative Dermatology
Takayasu Ito, Eiji Ishikawa, Hiroshi Matsuo, Mika Fujimoto, Tomohiro Murata, Kenichi Isoda, Hitoshi Mizutani, Masaaki Ito
Renal failure and infectious disease are strongly associated with morbidity and mortality in patients with severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen). However, it is reportedly difficult to introduce hemodialysis with an arteriovenous fistula (AVF). We encountered a 32-year-old man with RDEB-sev gen in whom hemodialysis with a native AVF was introduced that favorably affected his long-term survival. This patient eventually died because of cachexia related to the recurrence of cutaneous squamous cell carcinoma 51 months after hemodialysis introduction...
May 2016: Case Reports in Nephrology and Dialysis
Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro, Dejan Lazarevic, Salvatore Zirpoli, Andrea Farolfi, Cristina Gervasini, Maria Vittoria Cubellis, Lidia Larizza
BACKGROUND: Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only six patients are reported: all carried homozygous ITGA3 mutations and presented a dramatically severe phenotype leading to death before age 2 years, from multi-organ failure due to interstitial lung disease and congenital nephrotic syndrome. The involvement of skin and cutaneous adnexa was variable with sparse hair and nail dysplasia combined or not to skin lesions ranging from skin fragility to epidermolysis bullosa-like blistering...
October 7, 2016: Orphanet Journal of Rare Diseases
S Goetze, A K Dumke, D Zillikens, U C Hipler, P Elsner
Anti-laminin γ1-pemphigoid (formerly known as anti-p200 pemphigoid) is a rare subepidermal autoimmunobullous disorder first described by Zillikens et al. in 1996 (1,2). Clinically, it mimics bullous pemphigoid, linear IgA dermatosis, dermatitis herpetiformis, pompholyx or the inflammatory variant of epidermolysis bullosa acquisita, respectively (1,3). The laminin γ1-chain has been identified as the major targeting antigen (1,4,5). Histologically, a subepidermal split is seen accompanied by neutrophils and eosinophils as well as linear deposits of IgG and/or C3 along the dermoepidermal junction in direct immunofluorescence microscopy (1)...
September 29, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Susanna Esposito, Sophie Guez, Annalisa Orenti, Gianluca Tadini, Giulietta Scuvera, Laura Corti, Alessia Scala, Elia Biganzoli, Emilio Berti, Nicola Principi
In order to evaluate the serum anti-skin autoantibodies and cytokine concentrations in patients with different epidermolysis bullosa (EB) types and severity, 42 EB patients and 38 controls were enrolled. Serum anti-skin antibodies were significantly higher in the patients than in the controls (p = 0.008, p < 0.001, p < 0.001, p < 0.001 and p < 0.001 for desmoglein 1 (DSG1) desmoglein 3 (DSG3), bullous pemphigoid 180 (BP180), BP230 and type VII collagen (COL7), respectively). The same trend was observed for interleukin (IL)-1β, IL-2, IL-6, IL-10, tumor necrosis factor-β, and interferon-γ (p < 0...
2016: International Journal of Molecular Sciences
Marcello Guzman Letelier, Claudia Crisosto Jara, Sonia Peà Arrocha-Oltra, Sonia Gomar-Vercher, Miguel Peà Arrocha
Epidermolysis bullosa (EB) is a rare disease affecting the skin and mucus membranes, which is characterized by the formation of blisters in response to minimum trauma. The use of endosseous implants for fixed prosthetic restoration in patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB) provides considerably better results than conventional methods using removable dentures. The objective of this clinical case is to describe the restoration of the full arch of an atrophic maxilla using endosseous implants and an implant-supported fixed prosthetic in a patient diagnosed with RDEB and exhibiting severe general and oral symptoms; and to evaluate improvements in the quality of life of the patient...
September 26, 2016: Journal of Oral Implantology
Stefan Tukaj, Katja Bieber, Konrad Kleszczyński, Mareike Witte, Rebecca Cames, Kathrin Kalies, Detlef Zillikens, Ralf J Ludwig, Tobias W Fischer, Michael Kasperkiewicz
Cell stress-inducible heat shock protein 90 (Hsp90) has been recognized as key player in mediating inflammatory responses. While its systemic blockade was successfully used to treat autoimmune diseases in preclinical models, efficacy of a topical route of Hsp90 inhibitor administration has so far not been evaluated in chronic inflammatory and autoimmune-mediated dermatoses. Here, effects of the Hsp90 blocker 17-allylamino-demethoxygeldanamycin (17AAG) applied topically to the skin were determined in experimental inflammatory epidermolysis bullosa acquisita (EBA), an anti-type VII collagen autoantibody-induced blistering skin disease...
September 19, 2016: Journal of Investigative Dermatology
C Günther
Autoimmune bullous diseases are characterized by intraepidermal or subepidermal autoantibody deposition that leads to blisters and secondary erosion. Mucous membranes are frequently affected in pemphigus vulgaris and always involved in cicatricial and mucosal pemphigoid. Mucosal lesions are detected less frequently in patients with bullous pemphigoid or epidermolysis bullosa acquisita. The diagnosis of autoimmune bullous disorders is based on determination of the subtype of autoantibodies bound in the skin and the clinical picture...
October 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"