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Skin fragility

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https://www.readbyqxmd.com/read/28820180/osteogenesis-imperfecta
#1
REVIEW
Joan C Marini, Antonella Forlino, Hans Peter Bächinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure...
August 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28805934/fragility-of-epidermis-acne-and-post-procedure-lesional-skin
#2
G Fabbrocini, A B Rossi, M-D Thouvenin, C Peraud, V Mengeaud, A Bacquey, M Saint Aroman
'Fragile skin', or skin with lower resistance to aggressors, can be broadly classified into four causal categories: constitutional (age-dependent or associated with specific vulnerable locations on the body, e.g. eyelids), pathological (related to disease), circumstantial (related to environmental or internal factors, e.g. stress) and iatrogenic (caused by medical interventions or treatments). In this supplement, we focus on the fourth category, the iatrogenic origin of fragile skin and the role that dermo-cosmetics can have in restoring the natural protective function of the skin following treatments for skin diseases and medical interventions...
September 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28768499/simultaneous-primary-invasive-cutaneous-aspergillosis-in-two-preterm-twins-case-report-and-review-of-the-literature
#3
Floriane Gallais, Julie Denis, Olfa Koobar, Laurence Dillenseger, Dominique Astruc, Raoul Herbrecht, Ermanno Candolfi, Valérie Letscher-Bru, Marcela Sabou
BACKGROUND: Primary invasive cutaneous aspergillosis is a rare fungal infection that occurs mostly in immunocompromised patients. Newborns of very low birth weight present a high risk for this type of infection due to an immaturity of the cutaneous barrier and of the immune system. CASE PRESENTATION: We describe here a case of simultaneous invasive cutaneous aspergillosis in two preterm twins. Two male preterm bichorionic biamniotic twins (A & B) were born at a general hospital by spontaneous normal delivery at 24 weeks and 6 days of gestation...
August 2, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28765827/traceless-targeting-and-isolation-of-gene-edited-immortalized-keratinocytes-from-epidermolysis-bullosa-simplex-patients
#4
Magomet Aushev, Ulrich Koller, Claudio Mussolino, Toni Cathomen, Julia Reichelt
Epidermolysis bullosa simplex (EBS) is a blistering skin disease caused by dominant-negative mutations in either KRT5 or KRT14, resulting in impairment of keratin filament structure and epidermal fragility. Currently, nearly 200 mutations distributed across the entire length of these genes are known to cause EBS. Genome editing using programmable nucleases enables the development of ex vivo gene therapies for dominant-negative genetic diseases. A clinically feasible strategy involves the disruption of the mutant allele while leaving the wild-type allele unaffected...
September 15, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28736162/-skin-engineering-for-severe-burns
#5
J-J Lataillade, B Magne, E Bey, T Leclerc, M Trouillas
Severe burned patients need definitive and efficient wound coverage. Outcome of massive burns has been improved by using cultured epithelial autografts (CEA). Despite fragility, percentages of success take, cost of treatment and long-term tendency to contracture, this surgical technique has been developed in few burn centres. First improvements were to combine CEA and dermis-like substitute. Cultured skin substitutes provide earlier skin closure and satisfying functional result. These methods have been used successfully in massive burns...
July 20, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/28734943/deficits-in-col5a2-expression-result-in-novel-skin-and-adipose-abnormalities-and-predisposition-to-aortic-aneurysms-and-dissections
#6
Arick C Park, Noel Phan, Dawiyat Massoudi, Zhenjie Liu, John F Kernien, Sheila M Adams, Jeffrey M Davidson, David E Birk, Bo Liu, Daniel S Greenspan
Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragile, hyperextensible skin and hypermobile joints. cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused by COL5A1 null alleles. However, COL5A2 null alleles have yet to be associated with cEDS or other human pathologies. We previously showed that mice homozygous null for the α2(V) gene Col5a2 are early embryonic lethal, whereas haploinsufficiency caused aberrancies of adult skin, but not a frank cEDS-like phenotype, as skin hyperextensibility at low strain and dermal cauliflower-contoured collagen fibril aggregates, two cEDS hallmarks, were absent...
July 19, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28728858/-dress-complicated-by-hemophagocytic-lymphohistiocytosis-in-an-infant-treated-for-congenital-toxoplasmosis
#7
S Rioualen, J Dufau, C Flatres, P Lavenant, L Misery, J-M Roué
BACKGROUND: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe disease that may be complicated by hemophagocytic lymphohistiocytosis but this is rarely described in children. PATIENTS AND METHODS: We report the case of a 5-week old infant hospitalized in a pediatric intensive care unit for hemophagocytic lymphohistiocytosis with prolonged fever, splenomegaly, cytopenia, fibrinogen≤1.5g/L, ferritin≥500μg/L, and soluble IL-2 receptor≥2400U/mL...
July 17, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28726572/successful-forearm-prosthesis-fitting-in-a-patient-with-epidermolysis-bullosa-dystrophica-case-report
#8
Carl Verduyn, Marie-Anne Morren, Marguerite Stas, Friedl Sinnaeve, Katarina Segers, Carlotte Kiekens
BACKGROUND: Epidermolysis bullosa dystrophica is a rare dermatological disease characterized by extreme skin fragility and elevated risk of developing a squamous cell carcinoma. In some cases, amputation of a limb is necessary. Case description and methods: A 37-year-old man with recessive, severe generalized epidermolysis bullosa dystrophica developed a squamous cell carcinoma on the right forearm requiring a below-elbow amputation. Preoperative advice concerning indication and level of amputation was given...
July 1, 2017: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/28719827/mixed-evidence-for-the-potential-of-non-invasive-transcutaneous-vagal-nerve-stimulation-to-improve-the-extinction-and-retention-of-fear
#9
A M Burger, B Verkuil, H Fenlon, L Thijs, L Cools, H C Miller, B Vervliet, I Van Diest
Extinction memories are fragile and their formation has been proposed to partially rely on vagus nerve activity. We tested whether stimulating the auricular branch of the vagus (transcutaneous VNS; tVNS) accelerates extinction and reduces spontaneous recovery of fear. Forty-two healthy students participated in a 3-day fear conditioning study, where we tested fear acquisition (day 1), fear extinction (day 2) and the retention of the extinction memory (day 3). During extinction, participants were randomly allocated to receive tVNS or sham stimulation concurrently with each CS presentation...
July 8, 2017: Behaviour Research and Therapy
https://www.readbyqxmd.com/read/28714284/egg-albumen-as-a-fast-and-strong-medical-adhesive-glue
#10
Kaige Xu, Yuqing Liu, Shousan Bu, Tianyi Wu, Qiang Chang, Gurankit Singh, Xiaojian Cao, Chuang Deng, Bingyun Li, Gaoxing Luo, Malcolm Xing
Sutures penetrate tissues to close wounds. This process leads to inflammatory responses, prolongs healing time, and increases operation complexity. It becomes even worse when sutures are applied to stress-sensitive and fragile tissues. By bonding tissues via forming covalent bonds, some medical adhesives are not convenient to be used by surgeons and have side effects to the tissues. Here egg albumen adhesive (EAA) is reported with ultrahigh adhesive strength to bond various types of materials and can be easily used without any chemical and physical modifications...
July 17, 2017: Advanced Healthcare Materials
https://www.readbyqxmd.com/read/28693674/the-imperative-for-regenerative-agriculture
#11
Christopher J Rhodes
A review is made of the current state of agriculture, emphasising issues of soil erosion and dependence on fossil fuels, in regard to achieving food security for a relentlessly enlarging global population. Soil has been described as "the fragile, living skin of the Earth", and yet both its aliveness and fragility have all too often been ignored in the expansion of agriculture across the face of the globe. Since it is a pivotal component in a global nexus of soil-water-air-energy, how we treat the soil can impact massively on climate change - with either beneficial or detrimental consequences, depending on whether the soil is preserved or degraded...
March 1, 2017: Science Progress
https://www.readbyqxmd.com/read/28690212/focal-adhesions-in-the-skin-lessons-learned-from-skin-fragility-disorders
#12
Cristina Has, Yinghong He
Focal adhesions are large multiprotein cell-matrix adhesion complexes, which regulate multiple cellular functions, such as adhesion and migration. Their biological significance in skin is underscored by two genetic disorders, the Kindler syndrome and the interstitial lung disease, nephrotic syndrome and epidermolysis bullosa, in which mutations affect focal adhesion proteins, kindlin-1 and the integrin α3 subunit, respectively. Here we provide an overview of what we learned from the study of the molecular mechanisms of these diseases...
June 1, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28672133/unstable-fragility-fractures-of-the-ankle-in-the-elderly-transarticular-steinmann-pin-or-external-fixation
#13
R P J Meijer, J A Halm, T Schepers
INTRODUCTION: Because of poor skin conditions and comorbidity, open reduction and internal fixation in ankle fractures is frequently contra-indicated in the elderly. This study reports the results of two temporary fixation types in fragility fractures in the older patient: transarticular Steinmann pin fixation and external fixation. METHODS: Patients aged over 60 treated with a Steinmann pin or external fixation were retrospectively included. Patient, fracture and treatment characteristics were collected...
April 27, 2017: Foot
https://www.readbyqxmd.com/read/28652794/epidemiology-of-fragile-skin-internet-based-surveys-in-mexico-and-russia
#14
Jorge Ocampo-Candiani, Nikolay Murashkin, Asmaa Zkik, Markéta Saint Aroman, Pierre Wolkenstein
BACKGROUND: Fragile skin is a poorly understood skin condition, particularly in the general adult population. There are currently limited epidemiological data on the prevalence of fragile skin in adults. The objectives of this study were to assess the prevalence of perceived fragile skin across different skin types in representative samples of the general adult populations in Mexico and Russia, and to identify skin characteristics associated with perceived fragile skin. METHODS: Two identical cross-sectional surveys, using a short online self-administered questionnaire, were conducted on samples of recruited individuals that were representative of the general Mexican and Russian populations...
2017: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/28647894/keratin-gene-mutations-influence-the-keratinocyte-response-to-dna-damage-and-cytokine-induced-apoptosis
#15
Tina Zupancic, Gregor Sersa, Hans Törmä, Ellen Birgitte Lane, Harald Herrmann, Radovan Komel, Mirjana Liovic
The keratin filament cytoskeleton is vital to the normal function of epithelial cells. It provides structural support and regulates different aspects of cell metabolism. Mutations in keratins 5 and 14 cause a skin fragility disorder, epidermolysis bullosa simplex (EBS). Patients with severe EBS have an increased cumulative risk for basal cell carcinoma. In this study, we tested how keratin 5 and 14 mutant EBS patient-derived keratinocytes behave in the face of two different types of stressors that are able to induce cell death: ionizing radiation and cytokines TNF-α and TRAIL...
June 24, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28641957/kindler-syndrome-complicated-by-invasive-squamous-cell-carcinoma-of-the-palate
#16
H Souldi, M Y Bajja, M Mahtar
INTRODUCTION: Kindler syndrome is a very rare, autosomal recessive genodermatosis characterized by skin fragility and photosensitivity in infancy with progressive poikiloderma. CASE REPORT: We report the case of a young woman with a history of Kindler syndrome predominantly characterized by extensive involvement of the oropharyngeal mucosa. The patient presented with an ulcerative lesion of the palate. Computed tomography and biopsy concluded on unresectable invasive squamous cell carcinoma of the hard palate...
June 19, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28640219/topical-application-of-trisodium-ascorbyl-6-palmitate-2-phosphate-actively-supplies-ascorbate-to-skin-cells-in-an-ascorbate-transporter-independent-manner
#17
Shuichi Shibuya, Ikuyo Sakaguchi, Shintaro Ito, Eiko Kato, Kenji Watanabe, Naotaka Izuo, Takahiko Shimizu
Ascorbic acid (AA) possesses multiple beneficial functions, such as regulating collagen biosynthesis and redox balance in the skin. AA derivatives have been developed to overcome this compound's high fragility and to assist with AA supplementation to the skin. However, how AA derivatives are transferred into cells and converted to AA in the skin remains unclear. In the present study, we showed that AA treatment failed to increase the cellular AA level in the presence of AA transporter inhibitors, indicating an AA transporter-dependent action...
June 22, 2017: Nutrients
https://www.readbyqxmd.com/read/28612338/nutritional-rickets-and-osteomalacia-in-the-twenty-first-century-revised-concepts-public-health-and-prevention-strategies
#18
REVIEW
Suma Uday, Wolfgang Högler
PURPOSE OF REVIEW: Nutritional rickets and osteomalacia are common in dark-skinned and migrant populations. Their global incidence is rising due to changing population demographics, failing prevention policies and missing implementation strategies. The calcium deprivation spectrum has hypocalcaemic (seizures, tetany and dilated cardiomyopathy) and late hypophosphataemic (rickets, osteomalacia and muscle weakness) complications. This article reviews sustainable prevention strategies and identifies areas for future research...
August 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28611842/betulin-based-oleogel-to-improve-wound-healing-in-dystrophic-epidermolysis-bullosa-a-prospective-controlled-proof-of-concept-study
#19
Agnes Schwieger-Briel, Dimitra Kiritsi, Christoph Schempp, Cristina Has, Hauke Schumann
INTRODUCTION: Skin fragility and recurrent wounds are hallmarks of hereditary epidermolysis bullosa (EB). Treatment options to accelerate wound healing are urgently needed. Oleogel-S10 contains a betulin-rich triterpene extract from birch bark. In this study, we tested the wound healing properties of topical Oleogel-S10 in patients with dystrophic EB. METHODS: We conducted an open, blindly evaluated, controlled, prospective phase II pilot trial in patients with dystrophic EB (EudraCT number 2010-019945-24)...
2017: Dermatology Research and Practice
https://www.readbyqxmd.com/read/28592938/thermal-burn-in-a-30-minute-old-newborn-report-on-the-youngest-patient-with-iatrogenic-burn-injury
#20
L Abboud, G Ghanimeh
Burns in infants are rare. The majority of neonatal burns occur in the hospital setting. The immaturity of their immune system, their fragile and thin skin, difficulties in resuscitation, engraftment paucity limited by donor sites, and long-term complications make taking care of burned newborns extremely difficult. We present the case of a newborn burned 30 minutes after his birth over a total body surface of 35%, when the hot water bottle used in the hospital accidentally burst. This is the earliest iatrogenic burn in a newborn reported to date...
March 31, 2017: Annals of Burns and Fire Disasters
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