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https://www.readbyqxmd.com/read/28192633/ehlers-danlos-syndrome-classical-type
#1
Jessica M Bowen, Glenda J Sobey, Nigel P Burrows, Marina Colombi, Mark E Lavallee, Fransiska Malfait, Clair A Francomano
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31-37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research...
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28145469/high-throughput-screen-detects-calcium-signaling-dysfunction-in-typical-sporadic-autism-spectrum-disorder
#2
Galina Schmunk, Rachel L Nguyen, David L Ferguson, Kenny Kumar, Ian Parker, J Jay Gargus
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders without any defined uniting pathophysiology. Ca(2+) signaling is emerging as a potential node in the genetic architecture of the disorder. We previously reported decreased inositol trisphosphate (IP3)-mediated Ca(2+) release from the endoplasmic reticulum in several rare monogenic syndromes highly comorbid with autism - fragile X and tuberous sclerosis types 1 and 2 syndromes. We now extend those findings to a cohort of subjects with sporadic ASD without any known mutations...
February 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28126522/stromal-microenvironment-in-type-vii-collagen-deficient-skin-the-ground-for-squamous-cell-carcinoma-development
#3
REVIEW
Liliana Guerra, Teresa Odorisio, Giovanna Zambruno, Daniele Castiglia
Recessive dystrophic epidermolysis bullosa (RDEB) is a skin fragility disease caused by mutations that affect the function and/or the amount of type VII collagen (C7), the major component of anchoring fibrils. Hallmarks of RDEB are unremitting blistering and chronic wounds leading to tissue fibrosis and scarring. Nearly all patients with severe RDEB develop highly metastatic squamous cell carcinomas (SCC) which are the main cause of death. Accumulating evidence from a murine RDEB model and human RDEB cells demonstrates that lack of C7 also directly alters the wound healing process...
January 23, 2017: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/28120867/high-quality-bioreplication-of-intricate-nanostructures-from-a-fragile-gecko-skin-surface-with-bactericidal-properties
#4
David William Green, Kenneth Ka-Ho Lee, Jolanta Anna Watson, Hyun-Yi Kim, Kyung-Sik Yoon, Eun-Jung Kim, Jong-Min Lee, Gregory Shaun Watson, Han-Sung Jung
The external epithelial surfaces of plants and animals are frequently carpeted with small micro- and nanostructures, which broadens their adaptive capabilities in challenging physical habitats. Hairs and other shaped protuberances manage with excessive water, light contaminants, predators or parasites in innovative ways. We are interested in transferring these intricate architectures onto biomedical devices and daily-life surfaces. Such a project requires a very rapid and accurate small-scale fabrication process not involving lithography...
January 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28093252/low-energy-open-ankle-fractures-in-the-elderly-outcome-and-treatment-algorithm
#5
Asanka Wijendra, Rupali Alwe, Michael Lamyman, George A Grammatopoulos, Gregoris Kambouroglou
BACKGROUND: With an aging but still active population, open ankle fractures are increasingly presenting as low energy fragility injuries, sharing many characteristics with that of hip fractures. Yet, there is little in the literature on the management and outcome of these fractures. The primary aim of this study was to describe the outcome following open, ankle fragility fracture. Our secondary aim was to identify potential factors that improved outcome. METHODS: All consecutive, low energy open ankle fractures treated at a Level I Trauma Centre over a five-year period were included...
December 10, 2016: Injury
https://www.readbyqxmd.com/read/28087116/application-of-whole-exome-sequencing-in-elucidating-the-phenotype-and-genotype-spectrum-of-junctional-epidermolysis-bullosa-a-preliminary-experience-of-a-tertiary-care-centre-in-india
#6
Vamsi K Yenamandra, Shamsudheen K Vellarikkal, Manoj Kumar, Madhumita R Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata B Ray, Amit K Dinda, Madhulika Kabra, Punit Kaur, Vinod K Sharma, Gomathy Sethuraman
BACKGROUND: Junctional epidermolysis bullosa (JEB) is a diverse group of genodermatoses associated with extreme skin fragility. Despite several well-characterized genetic studies, molecular diagnosis of this heterogeneous group is still challenging. Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing (WES) as a fast and efficient diagnostic strategy in several genodermatoses. OBJECTIVE: In view of the scarcity and need of molecular studies for JEB in India, we sought to explore the potential of WES in understanding the mutational spectrum of this rare, in certain subtypes lethal, sub-group of EB...
December 29, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28049509/hyperbaric-oxygen-therapy-for-a-refractory-skin-ulcer-after-radical-mastectomy-and-radiation-therapy-a-case-report
#7
Mitsuhiro Enomoto, Kazuyoshi Yagishita, Kae Okuma, Takuya Oyaizu, Yasushi Kojima, Atsushi Okubo, Takuma Maeda, Satoko Miyamoto, Atsushi Okawa
BACKGROUND: Radiation therapy is performed as an adjuvant therapy when indicated following surgical resection of malignant tumors. However, radiation exposure induces acute or chronic dermatitis, depending on the radiation dose, interval, tissue volume, or irradiated area of the body. Radiation-induced skin ulcers and osteomyelitis of the underlying bone are intractable late-stage complications of radiation therapy, and often require reconstructive surgery to cover exposed tissue. Hyperbaric oxygen therapy has been suggested as a treatment for delayed radiation injury with soft tissue and bony necrosis...
January 4, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28038939/skin-fragility-in-the-wild-derived-inbred-mouse-strain-mus-pahari-eij
#8
C Herbert Pratt, Christopher S Potter, Raoul V Kuiper, Son Yong Karst, Soheil S Dadras, Derry C Roopenian, John P Sundberg
Mus pahari is a wild-derived, inbred mouse strain. M. pahari colony managers observed fragility of this strain's skin resulting in separation of tail skin from the mouse if handled incorrectly. Tail skin tension testing of M. pahari resulted in significantly lowered force threshold for caudal skin rupture and loss in comparison to closely related inbred mouse species and subspecies and even more than a model for junctional epidermolysis bullosa. Histologically, the tail skin separated at the subdermal level with the dermis firmly attached to the epidermis, excluding the epidermolysis bullosa complex of diseases...
February 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28033634/how-to-harmonize-the-ethnic-nose
#9
Artur Grinfeld, Rodrigo Betelli, Guilherme Arruda, Washington Almeida
The demand for cosmetic surgery has significantly increased in the past few years mainly due to economic rise witnessed in Brazil. The state of Bahia has predominately Afro-descendant population with the same countrywide scenario, where the surgeon must be able to face challenges such as the specifics demands of rhinoplasty in an ethnic nose. It represents not only a different nasal variety from the Caucasoid, but also a complex anatomical feature, with its own peculiarities, as thicker and oilier skin, with bulky fibrous fatty tissue with numerous sebaceous glands...
December 2016: Facial Plastic Surgery: FPS
https://www.readbyqxmd.com/read/28025844/cross-sectional-study-evaluating-skin-hair-nail-and-bone-disease-in-patients-with-focal-dermal-hypoplasia
#10
Nicole S Gunasekera, Joan K Divito, Thomas S Kupper, Jennifer T Huang, Sherrie J Divito
Focal dermal hypoplasia (FDH) is an X-linked dominant disease characterized by dermal thinning and fat herniation with other ectodermal and mesodermal abnormalities. There is limited literature regarding the symptomatology and progression of skin, hair, and nail disease. The risk of bone fragility has not been explored either. This cross-sectional survey-based study explored these gaps in knowledge and provides direction for future avenues of research in FDH.
December 26, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/28003899/dental-and-anaesthetic-challenges-in-a-patient-with-dystrophic-epidermolysis-bullosa
#11
Ali Al-Abadi, Salah A Al-Azri, Abdulaziz Bakathir, Yusra Al-Riyami
Epidermolysis bullosa is a group of rare genetic disorders characterised by skin and mucous membrane fragility and systemic manifestations of variable severity. We report a case of dystrophic epidermolysis bullosa in an 18-year-old male patient who presented to the Department of Oral Health at Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with recurrent dental pain and infections. Due to the poor dental status of the patient and anticipated operative difficulties due to microstomia and limited mouth opening, the patient underwent full dental clearance under general anaesthesia...
November 2016: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/27990838/multiple-perforation-of-small-intestine-diverticula-in-a-patient-with-ehlers-danlos-syndrome
#12
Raúl Honrubia Lopez, Aurora Burgos García, Elena Palacios Lázaro
Ehlers-Danlos syndrome represents a group of hereditary connective tissue disorders characterized by ligamentous hyperlaxity, fragile skin and joint hypermobility. Gastrointestinal complications in this syndrome are less well known.
January 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27979363/-aplasia-cutis-congenita-associated-with-epidermolysis-bullosa
#13
Félix Muñoz-Guerrero, Adrián Antonio Muñoz-Solís, José Manuel Ornelas-Aguirre
INTRODUCTION: Aplasia cutis congenita (ACC) is a skin condition of rare presentation, this disease is characterized by absence of skin at birth and associated with facial, skin and bone skull deformities. The diagnosis is mainly clinical. CASE REPORT: Male 5 days after birth, unique product of primigravida mother and no family history of relevance. Physical examination revealed bilateral and symmetrical skin defects of both lower extremities, the disease is characterized by skin fragility, scabs, and coated pseudomembrane ulcers, decreased interdigital space between toes of the left foot, retraction of the foot and genu varum...
December 12, 2016: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/27931749/-hereditary-epidermolysis-bullosa-french-national-guidelines-pnds-for-diagnosis-and-treatment
#14
C Chiaverini, E Bourrat, J Mazereeuw-Hautier, S Hadj-Rabia, C Bodemer, J-P Lacour
Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. They are classified by level of skin cleavage (from top to bottom) into four groups: EB simplex, junctional EB, dystrophic EB and Kindler syndrome...
January 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27904753/skin-flap-complications-after-decompressive-craniectomy-and-cranioplasty-proposal-of-classification-and-treatment-options
#15
Alessandro Di Rienzo, Pier Paol Pangrazi, Michele Riccio, Roberto Colasanti, Ilaria Ghetti, Maurizio Iacoangeli
BACKGROUND: The list of complications reported after decompressive craniectomy (DC) and cranioplasty is progressively increasing. Nonetheless, the exact incidence of these events is still ill-defined. Problems affecting skin flaps after DC and cranioplasty have never been accurately analyzed in papers and their impact on patients' prognosis is largely underestimated. METHODS: In a 10-year time, we treated by DC 450 patients, 344 of whom underwent cranioplasty, either with autologous bone or artificial implants (hydroxyapatite, polyetheretherketone, titanium, polymethylmethacrylate)...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27892729/reduction-and-fragmentation-of-elastic-fibers-in-the-skin-of-obese-mice-is-associated-with-altered-mrna-expression-levels-of-fibrillin-1-and-neprilysin
#16
Hiroko Makihara, Moeko Hidaka, Yui Sakai, Yoshiko Horie, Hideaki Mitsui, Kenichi Ohashi, Yoshio Goshima, Tomoko Akase
AIM OF THE STUDY: Our previous research suggested that obesity induces structural fragility in the skin. Elastic fibers impart strength and elasticity. In this study, we determined whether elastic fibers decrease in the skin of obese mice. MATERIALS AND METHODS: To confirm alterations in elastic fiber content due to obesity, we used spontaneously obese model mice (TSOD) and control mice (TSNO). Furthermore, to evaluate the elastin structure and gene expression dependent on the severity of obesity, an obesity-enhanced mouse model was developed by feeding a high fat diet to TSOD (TSOD-HF)...
November 28, 2016: Connective Tissue Research
https://www.readbyqxmd.com/read/27889062/monoallelic-mutations-in-the-translation-initiation-codon-of-klhl24-cause-skin-fragility
#17
Yinghong He, Kristin Maier, Juna Leppert, Ingrid Hausser, Agnes Schwieger-Briel, Lisa Weibel, Martin Theiler, Dimitra Kiritsi, Hauke Busch, Melanie Boerries, Katariina Hannula-Jouppi, Hannele Heikkilä, Kaisa Tasanen, Daniele Castiglia, Giovanna Zambruno, Cristina Has
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechanically induced formation of skin blisters, is largely known, but a number of cases still remain genetically unsolved. Here, we used whole-exome and targeted sequencing to identify monoallelic mutations, c.1A>G and c.2T>C, in the translation initiation codon of the gene encoding kelch-like protein 24 (KLHL24) in 14 individuals with a distinct skin-fragility phenotype and skin cleavage within basal keratinocytes...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27879149/increasing-amount-of-amyloid-are-associated-with-the-severity-of-clinical-features-in-hereditary-gelsolin-agel-amyloidosis
#18
Tiia Pihlamaa, Sinikka Suominen, Sari Kiuru-Enari, Maarit Tanskanen
BACKGROUND: Patients with hereditary gelsolin (AGel) amyloidosis (HGA) present with hanging skin (cutis laxa) and bilateral cranial neuropathy, and require symptomatic plastic surgery. Our clinical observation of tissue fragility prompted us to design a prospective study. METHODS: Twenty-nine patients with HGA undergoing surgery were interviewed and clinically examined. The height and thickness of skin folds in standard anatomical localizations were measured. The presence and distribution of amyloid in skin samples were analyzed using Congo red staining and immunohistochemistry using antibodies against gelsolin amyloid (AGel) subunit...
December 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/27874893/abnormal-wound-healing-related-to-high-dose-systemic-corticosteroid-therapy-in-a-patient-with-ehlers-danlos-syndrome-benign-hypermobility-type
#19
Stephanie K Jacks, Matthew J Zirwas
The adverse impact of chronic corticosteroid therapy on wound healing has been well characterized, as has abnormal wound healing known to occur in the classic type of Ehlers-Danlos syndrome (EDS). In contrast, abnormal wound healing is absent in cases of EDS benign hypermobility type (EDS-BHT). We present the case of a patient with EDS-BHT with no history of abnormal wound healing who developed large nonhealing ulcers to sites of minor trauma after initiating therapy with high-dose systemic corticosteroids for dermatomyositis...
October 2016: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/27862331/the-concept-of-fragile-skin-a-case-of-disease-mongering-in-dermatology
#20
Peter Elsner
"Disease mongering" is a term proposed by medical journalist Lynn Payer in 1992 as "trying to convince essentially well people that they are sick, or slightly sick people that they are very ill" [1]. Scientifically, it has been defined as the "selling of sickness that widens the boundaries of illness in order to grow markets for those who sell and deliver treatments" [2]. While the promotion of medical products to physicians is a legal right of manufacturers that may serve a legitimate purpose, i.e. informing physicians on innovative treatment options for their patients, disease mongering refers to the medicalisation of conditions that do not fulfil the definition of disease...
November 11, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
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