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Epidermolysis bullosa

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https://www.readbyqxmd.com/read/28432467/renal-skin-syndromes
#1
REVIEW
Cristina Has, Yinghong He
Renal-skin syndroms are a group of genetic disorders with renal and cutaneous manifestations that target molecular components present in both organs. Inherited renal-skin syndromes are mainly associated with defects of cell-matrix adhesion. We provide a non-exhaustive overview of the main molecular players at cell-matrix adhesions in mouse models and in human genetic disorders affecting kidney and skin. Renal and urinary tract involvement is described in all four major epidermolysis bullosa types and, in particular, in junctional subtypes and in recessive dystrophic epidermolysis bullosa...
April 22, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28426906/measuring-the-impact-of-dermatological-conditions-on-family-and-caregivers-a-review-of-dermatology-specific-instruments
#2
REVIEW
F Sampogna, A Y Finlay, S S Salek, P Chernyshov, F J Dalgard, A W M Evers, D Linder, L Manolache, S E Marron, F Poot, S Spillekom-van Koulil, Å Svensson, J C Szepietowski, L Tomas-Aragones, D Abeni
The patient is the centre of a web of relationships and the impact of his/her disease on family members and caregivers must be taken into account. The aim of this study was to identify the specific instruments that measure the impact of a dermatological disease on the quality of life (QoL) of family members, by performing a systematic search of the literature. Fifteen papers were identified, describing the creation and validation of nine instruments. Four of them concerned atopic dermatitis (Dermatitis Family Index, DFI; Parents' Index QoL Atopic Dermatitis, PiQoL-AD; QoL in Primary Caregivers of children with Atopic Dermatitis, QPCAD; Childhood Atopic Dermatits Impact Scale, CADIS), two measured the impact of psoriasis in family members (Psoriasis Family Index, PFI; FamilyPso), one the impact of epidermolysis bullosa (Epidermolysis Bullosa Burden of Disease, EB-BoD), one of ichthyosis (Family Burden Ichthyosis, FBI), and one was generic for dermatological conditions (Family Dermatology Life Quality Index, FDLQI)...
April 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#3
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28425111/-nails-only-phenotype-and-partial-dominance-of-p-glu170lys-mutation-in-a-family-with-epidermolysis-bullosa-simplex
#4
Álvaro González-Cantero, Ana Isabel Sánchez-Moya, Cristina Pérez-Hortet, Elena Martínez-Lorenzo, Blas Gómez-Dorado, Cristina Schoendorff-Ortega
Epidermolysis bullosa (EB) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails-only phenotype in two patients with epidermolysis bullosa simplex (EBS) and a heterozygous pGlu170Lys mutation and the second reported case of EBS associated with a homozygous p.Glu170Lys mutation in the KRT5 gene. Our findings may be relevant for genetic counseling and for understanding the inheritance pattern of EBS...
April 19, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28400893/epidermolysis-bullosa-simplex-with-muscular-dystrophy-review-of-the-literature-and-a-case-report
#5
REVIEW
Jana Kyrova, Lenka Kopeckova, Hana Buckova, Lenka Mrazova, Karel Vesely, Marketa Hermanova, Hana Oslejskova, Lenka Fajkusova
BACKGROUND: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented. MAIN OBSERVATIONS: In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was considered as the first specific symptom of muscular dystrophy. Since then, severe scoliosis, urological and psychiatric complication have quickly developed...
November 30, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28395376/-rehabilitation-of-children-and-adolescents-with-chronic-skin-diseases
#6
R Stachow, M Küppers-Chinnow, S Scheewe
Chronic skin diseases are a common indication for inpatient rehabilitation in children and adolescents. Atopic eczema and psoriasis play the most important role. But other rare congenital dermatoses such as ichthyoses or epidermolysis bullosa can also be rehabilitated. Patients with skin diseases are often considerably stigmatized and report a limited quality of life and participation. The somatic and psychosocial development of the children is also often severely affected by severe forms of the diseases. The concept of inpatient rehabilitation is, on the one hand, the development of an individually adapted topical therapy plan, which often follows a step concept and is adapted to the severity of the skin symptoms...
April 2017: Die Rehabilitation
https://www.readbyqxmd.com/read/28392661/identification-of-a-novel-mutation-of-lamb3-gene-in-a-lybian-patient-with-hereditary-epidermolysis-bullosa-by-whole-exome-sequencing
#7
Nadia Laroussi, Olfa Messaoud, Mariem Chargui, Chaima Ben Fayala, Abdelaziz Elahlafi, Mourad Mokni, Anu Bashamboo, Kenneth McElreavey, Mohamed Samir Boubaker, Houda Yacoub Youssef, Sonia Abdelhak
No abstract text is available yet for this article.
April 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28369282/recessive-dystrophic-epidermolysis-bullosa-results-in-painful-small-fibre-neuropathy
#8
Sofia von Bischhoffshausen, Dinka Ivulic, Paola Alvarez, Victor C Schuffeneger, Juan Idiaquez, Constanza Fuentes, Pilar Morande, Ignacia Fuentes, Francis Palisson, David L H Bennett, Margarita Calvo
Small fibres in the skin are vulnerable to damage in metabolic or toxic conditions such as diabetes mellitus or chemotherapy resulting in small fibre neuropathy and associated neuropathic pain. Whether injury to the most distal portion of sensory small fibres due to a primary dermatological disorder can cause neuropathic pain is still unclear. Recessive dystrophic epidermolysis bullosa (RDEB) is a rare condition in which mutations of proteins of the dermo-epidermal junction lead to cycles of blistering followed by regeneration of the skin...
March 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28365758/amino-acid-duplication-in-the-coiled-coil-structure-of-collagen-xvii-alters-its-maturation-and-trimerization-causing-mild-junctional-epidermolysis-bullosa
#9
Jasmin K Kroeger, Silke C Hofmann, Juna Leppert, Cristina Has, Claus-Werner Franzke
The function and stability of collagens depend on the accurate triple helix formation of three distinct polypeptide chains. Disruption of this triple-helical structure can result in connective-tissue disorders. Triple helix formation is thought to depend on three-stranded coiled-coil oligomerization sites within non-collagenous domains. However, only little is known about the physiological relevance of these coiled-coil structures. Transmembrane collagen XVII, also known as 180 kDa bullous pemphigoid antigen provides mechanical stability through the anchorage of epithelial cells to the basement membrane...
February 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28364942/cardiomyopathy-in-patients-with-hereditary-bullous-epidermolysis
#10
A Batalla, A Vicente, J Bartrons, F Prada, C Fortuny, M A González-Enseñat
INTRODUCTION AND OBJECTIVE: In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. METHODS: This was a descriptive, cross-sectional chart-review study in which we recorded the type and main subtypes of EB and the presence or absence of DC...
March 29, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28357176/novel-and-emerging-therapies-in-the-treatment-of-recessive-dystrophic-epidermolysis-bullosa
#11
REVIEW
Ellie Rashidghamat, John A McGrath
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of inherited blistering diseases that affects ∼ 500,000 people worldwide. Clinically, individuals with EB have fragile skin and are susceptible to blistering following minimal trauma, with mucous membrane and other organ involvement in some subtypes. Within the spectrum of EB, ∼ 5% of affected individuals have the clinically more severe recessive dystrophic (RDEB) variant with a prevalence of 8 per one million of the population...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28338219/human-orf-complicated-by-epidermolysis-bullosa-acquisita
#12
E Zuelgaray, C Salle de Chou, J Gottlieb, M Battistella, M D Vignon-Pennamen, M Bagot, F Guibal, J D Bouaziz
Orf is a DNA parapoxvirus transmitted to humans by contact with infected goats and sheep. Many complications have been reported after Orf infection including erythema multiforme. A few cases of auto-immune bullous dermatosis complicating Orf disease have been reported to date, usually characterized by tense blisters eruptions with or without mucosal involvement, linear deposition of C3, IgG and/or IgA along the basement membrane and negativity of indirect immunofluorescence analysis and ELISA assays (performed in 4 of 11 reported cases) against target antigens of bullous pemphigoid, mucous membrane pemphigoid or epidermolysis bullosa acquisita, except one case of mucosal pemphigoid with antilaminin-332 antibodies...
March 24, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28322200/complement-component-c3-and-complement-factor-b-promote-growth-of-cutaneous-squamous-cell-carcinoma
#13
Pilvi Riihilä, Liisa Nissinen, Mehdi Farshchian, Markku Kallajoki, Atte Kivisaari, Seppo Meri, Reidar Grénman, Sirkku Peltonen, Juha Peltonen, Taina Pihlajaniemi, Ritva Heljasvaara, Veli-Matti Kähäri
Cutaneous squamous cell carcinoma (cSCC) is one of the most common metastatic skin cancers with increasing incidence. We examined the roles of complement component C3 and complement factor B (CFB) in the growth of cSCC. Analysis of cSCC cell lines (n = 8) and normal human epidermal keratinocytes (n = 11) with real-time quantitative PCR and Western blotting revealed up-regulation of C3 and CFB expression in cSCC cells. Immunohistochemical staining revealed stronger tumor cell-specific labeling for C3 and CFB in invasive cSCCs (n = 71) and recessive dystrophic epidermolysis bullosa-associated cSCCs (n = 11) than in cSCC in situ (n = 69), actinic keratoses (n = 63), and normal skin (n = 5)...
March 16, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28300445/botanicals-with-dermatologic-properties-derived-from-first-nations-healing
#14
Sophia Colantonio, Jason K Rivers
INTRODUCTION: First Nations people have a long history of working with medicinal plants used to treat skin diseases. The purpose was to assess the dermatologic therapeutic potential of western red cedar, white spruce, birch, balsam poplar, and black spruce. METHODS: Based on expert recommendations, 5 trees were selected that were used in First Nations medicine for cutaneous healing and have potential and/or current application to dermatology today. We searched several databases up to June 12, 2014...
February 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28297147/compound-heterozygosity-of-dominant-and-recessive-col7a-alleles-in-a-severely-affected-patient-with-a-family-history-of-dystrophic-epidermolysis-bullosa-clinical-findings-genetic-testing-and-treatment-implications
#15
Kendra D Watson, Jennifer J Schoch, Geoffrey J Beek, Jennifer L Hand
An 8-year-old girl born to a family with more than three generations of dominant dystrophic epidermolysis bullosa (DDEB) presented with life-threatening confluent skin erosions, mitten hand deformity, and failure to thrive. Reassessment of her family history and genetic testing showed compound heterozygous COL7A mutations, one inherited from her DDEB-affected mother and one from her unaffected, healthy father. This family illustrates the risk of unexpected, severe, autosomal recessive epidermolysis bullosa (EB) in a family with milder, multigenerational autosomal dominant EB...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28271571/gene-editing-for-skin-diseases-designer-nucleases-as-tools-for-gene-therapy-of-skin-fragility-disorders
#16
Oliver P March, Julia Reichelt, Ulrich Koller
What is the topic of this review? This review concerns current gene editing strategies for blistering skin diseases with respect to individual genetic constellations and distinct conditions. What advances does it highlight? Specificity and safety dominate the discussion of gene editing applications for gene therapy, where a number of tools are implemented. Recent developments in this rapidly progressing field pose further questions regarding which tool is best suited for each particular use. The current treatment of inherited blistering skin diseases, such as epidermolysis bullosa (EB), is largely restricted to wound care and pain management...
March 7, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/28266741/signaling-and-targeted-therapy-of-inflammatory-cells-in-epidermolysis-bullosa-acquisita
#17
REVIEW
Ralf J Ludwig
Pemphigoid diseases (PD) are chronic and life-threating autoimmune diseases of the skin and mucous membranes. PD are characterized and caused by autoantibodies targeting components of the basement membrane. In the PD epidermolysis bullosa acquisita (EBA) the target autoantigen is type VII collagen. Current treatment options of PD, especially EBA, are limited and are mostly based on systemic immunosuppression. Animal models of PD have greatly advanced our understanding of PD pathogenesis. This has led to the identification of several novel therapeutic targets, including signaling molecules...
March 7, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28262626/properties-of-skin-stem-cells-and-their-potential-clinical-applications-in-modern-dermatology
#18
Anna Niezgoda, Piotr Niezgoda, Laura Nowowiejska, Agnieszka Białecka, Kaja Męcińska-Jundziłł, Urszula Adamska, Rafał Czajkowski
Stem cells play an important role in medical science, and scientists are investing large sums in order to perform sophisticated studies designed to establish potential clinical applications of stem cells. Growing experience has enabled researchers to determine the precise nature of stem cell division. Although the properties of this particular population of cells have been known and used for some time, mainly with regards to bone marrow-derived mesenchymal stem cell transplantation, we now face a significant challenge in implementing the practical use of skin-derived precursors, making it possible to avoid the necessity for patients to undergo invasive procedures in order to obtain stem cells from bone marrow...
March 11, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28258944/caesarean-delivery-in-a-pregnant-woman-with-epidermolysis-bullosa-anaesthetic-challenges
#19
M Araújo, R Brás, R Frada, L Guedes-Martins, P Lemos
Epidermolysis bullosa is a heterogeneous group of hereditary diseases characterised by extreme fragility of skin and mucosa, with blister and lesion formation spontaneously or in response to trauma. Anaesthetic management of these patients is challenging with respect to positioning, monitoring, use of medical devices and airway management. These challenges are increased when managing labour. We report an elective caesarean delivery in a nulliparous woman with autosomal recessive dystrophic epidermolysis bullosa, managed successfully with spinal anaesthesia...
February 3, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/28220564/epidermolysis-bullosa-simplex-complicated-by-allergic-contact-dermatitis-caused-by-a-hydrocolloid-dressing
#20
Sabine Müller, Dimitra Kiritsi
No abstract text is available yet for this article.
March 2017: Contact Dermatitis
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