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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
Su-Ping Li, Pei-Yi Yao, Jin-Feng Li, David Kay Ferguson, Long-Rui Min, Zhen-Qing Chi, Yong Wang, Jian-Xin Yao, Jin-Geng Sha
Fossil blister pearls attached to the shells of an Anodonta mollusk from China, early Early Pleistocene, are reported here for the first time. The pearls were investigated in detail using a variety of methods. Micro-CT scanning of the fossil pearls was carried out to discover the inner structure and the pearl nucleus. Using CTAn software, changes in the gray levels of the biggest pearl, which reflect the changing density of the material, were investigated. The results provide us with some clues on how these pearls were formed...
2016: PloS One
Marcus D Mazur, Philipp Taussky, Joel D MacDonald, Min S Park
BACKGROUND AND IMPORTANCE: As the use of flow-diverting stents (FDSs) for intracranial aneurysms expands, a small number of case reports have described the successful treatment of blister aneurysms of the internal carotid artery with flow diversion. Blister aneurysms are uncommon and fragile lesions that historically have high rates of morbidity and mortality despite multiple treatment strategies. We report a case of rebleeding after treatment of a ruptured blister aneurysm with deployment of a single FDS...
November 2016: Neurosurgery
Aneliza de Fatima Moraes da Silva, Daniel Galera Bernabé, Glauco Issamu Miyahara, Eder Ricardo Biasoli, Renata Callestini, Kellen Cristine Tjioe
Oral biopsy of vesiculobullous diseases such as pemphigus vulgaris often raises questions due to some particularities involving this procedure. The adequate selection of the area to be biopsied defines if the final diagnosis will be reached, being the Achiles heel of the proper management of the patient. Here, the authors report a case of a woman who sought for treatment of generalized oral blisters and ulcers that caused severe pain. She had undergone a previous biopsy by other professionals that was inconclusive...
October 14, 2016: Journal of Craniofacial Surgery
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
Franziska Vielmuth, Vera Rötzer, Eva Hartlieb, Christoph Hirneiß, Jens Waschke, Volker Spindler
Purpose: The autoimmune blistering skin disease pemphigus vulgaris (PV) is caused by autoantibodies against desmosomal adhesion molecules. Patients may suffer conjunctival involvement, yet the underlying mechanisms are largely unclear. We characterized human and murine conjunctiva with respect to the PV autoantigens, and evaluated the effects and mechanisms of PV autoantibodies applied to human conjunctiva ex vivo. Methods: We obtained human conjunctiva specimens from surgical explants and established a short-term culture model to study the alterations induced by antibody fractions of PV patients (PV-IgG)...
August 1, 2016: Investigative Ophthalmology & Visual Science
Katarzyna Osipowicz, Agnieszka Kalinska-Bienias, Cezary Kowalewski, Katarzyna Wozniak
Haemodialysis is the most frequent form of renal replacement therapy (RRT) in patients with end-stage renal disorder (ESRD). Patients with ESRD frequently develop skin problems, mainly xerosis, pruritus and hyperpigmentation, as well as bullous diseases, mainly porphyria or pseudoporphyria and, in some cases, bullous pemphigoid (BP). BP is the most common autoimmune sub-epidermal blistering disease, and it predominantly affects elderly people. Clinically, BP is characterised by generalised pruritic, bullous eruptions and urticaria-like lesions...
October 17, 2016: International Wound Journal
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
Benjamin Farahnik, Collin M Blattner, Michael B Mortazie, Benjamin M Perry, William Lear, Dirk M Elston
Hailey-Hailey disease or familial benign chronic pemphigus is a rare blistering dermatosis that is characterized by recurrent erythematous plaques with a predilection for the skin folds. For extensive Hailey-Hailey disease that is recalcitrant to conventional therapy, laser ablation, photodynamic therapy, electron beam radiotherapy, botulinum toxin type A, dermabrasion, glycopyrrolate, and afamelanotide have been reported as useful treatments, but comparative trials are lacking. This review discusses the various treatment modalities for Hailey-Hailey disease and a summary of the evidence for the most recommended treatments...
October 13, 2016: Journal of the American Academy of Dermatology
Shlomo Chamny, Dan Miron, Nadia Lumelsky, Hana Shalev, Elana Gazal, Rita Keynan, Avner Shemer, Dov Tamarkin
BACKGROUND: Currently available treatment options for impetigo are limited by either systemic side effects (for oral therapy) or lack of ease of use (for topical ointment). A novel foam formulation of minocycline for topical use may improve convenience and treatment utilization for pediatric patients with impetigo. OBJECTIVE: To evaluate the safety and efficacy of topically applied minocycline foam (FMX-102 1% and 4%) in the treatment of impetigo and to determine the optimal therapeutic active ingredient concentration...
October 1, 2016: Journal of Drugs in Dermatology: JDD
Sharel Pei E, Yang-Rae Kim, David Perry, Cameron Luke Bentley, Patrick R Unwin
There is great interest in finding and developing new, efficient and more active electrocatalytic materials. Surface modification of highly oriented pyrolytic graphite (HOPG), through the introduction of surface "blisters", is demonstrated to result in an electrode material with greatly enhanced electrochemical activity. The increased electrochemical activity of these blisters, which are produced by electro-oxidation in HClO4, is revealed through the use of scanning electrochemical cell microscopy (SECCM), coupled with complementary techniques (optical microscopy, FE-SEM, Raman spectroscopy, and AFM)...
October 14, 2016: ACS Applied Materials & Interfaces
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
Mahdi Gholami, Reza Shahakbari, Somayeh Abdolahpour, Masoud Hatami, Azam Roshanmir
INTRODUCTION: Herpes zoster Infection (HZI) is a viral disease with painful skin rashes and blisters in a limited area on one side of the body, often in a strip. Osteonecrosis with spontaneous exfoliation of teeth in association with HZI of the mandibular nerve is a rare phenomenon. In this report, such an unusual complication of HZI is presented. CASE REPORT: The clinical course of a 53-year-old woman and a 54-year-old man with HZI associated with alveolar bone necrosis and tooth exfoliation were reviewed in order to develop a patient profile for this rare combination of physical findings...
September 2016: Iranian Journal of Otorhinolaryngology
I Vázquez-Osorio, P Gonzalvo-Rodríguez, E Rodríguez-Díaz
No abstract text is available yet for this article.
October 10, 2016: Actas Dermo-sifiliográficas
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
J Loget, J Plee, F Antonicelli, P Bernard
Predisposing factors for bullous pemphigoid (BP), the most common autoimmune blistering disease, include neurological disorders, chronic use of certain drugs (spironolactone, loop diuretics, psycholeptics).(1) The coexistence of psoriasis with classical BP is occasionally observed, whereas half of the patient population with anti-laminin γ1 pemphigoid of Japanese origin have coexisting psoriasis.(2-3) We report for the first time a case of relapsing BP associated with psoriasis, in which both dermatoses completely disappeared after treatment with ustekinumab, a monoclonal antibody that targets the p40 subunit of IL-12/23...
October 12, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Jacob Mareen, Jithendriya Madhukara
Lucio phenomenon (LP) or erythema necroticans is a rare type of reaction pattern found in untreated patients with diffuse non-nodular leprosy. It is important to distinguish this from vasculonecrotic erythema nodosum because thalidomide with high-dose steroids is the mainstay of treatment for the latter, whereas LP shows no response to thalidomide. We report a case of a 60-year-old man who presented with purpuric patches, hemorrhagic blisters, and ulcers over extremities of 15 days duration. On cutaneous examination, there were multiple stellate purpuric patches, hemorrhagic bullae, and deep necrotic ulcers, mainly over extremities...
September 2016: Indian Dermatology Online Journal
Marta Wieczorek, Annette Czernik
Paraneoplastic pemphigus (PNP) is a fatal autoimmune blistering disease associated with an underlying malignancy. It is a newly recognized blistering disease, which was first recognized in 1990 by Dr Anhalt who described an atypical pemphigus with associated neoplasia. In 2001, Nguyen proposed the term paraneoplastic autoimmune multiorgan syndrome because of the recognition that the condition affects multiple organ systems. PNP presents most frequently between 45 and 70 years old, but it also occurs in children and adolescents...
2016: Clinical, Cosmetic and Investigational Dermatology
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