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https://www.readbyqxmd.com/read/27931749/-hereditary-epidermolysis-bullosa-french-national-guidelines-pnds-for-diagnosis-and-treatment
#1
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...
December 5, 2016: 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
#2
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
#3
Hiroko Makihara, Moeko Hidaka, Yui Sakai, Yoshiko Horie, Hideaki Mitsui, Kenichi Ohashi, Yoshio Goshima, Tomoko Akase
AIM OF THE STUDY: Our previous researches 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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/27859716/response-to-the-concept-of-fragile-skin-a-case-of-disease-mongering-in-dermatology
#8
Ulrike Blume-Peytavi
We thank Dr Elsner for his interest in our supplement "Fragility of epidermis in newborns, children and adolescents" recently published in this journal, but note his concern about the value of the term "fragile skin" as a scientifically useful disease definition, given the wide spectrum of conditions covered by the term [1]. Contrary to what is suggested in the letter by Dr Elsner, fragile skin is not a "disease" and should not be confounded with skin fragility existing in the repertoire of dermatological diseases requiring medical treatment using pharmaceutical interventions (e...
November 11, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27855564/adenomatous-hyperplasia-of-the-mucous-glands-in-captive-archey-s-frogs-leiopelma-archeyi
#9
S D Shaw, L Berger, C Harvey, M R Alley, P J Bishop, R Speare
AIMS: To describe the gross and light microscopic characteristics of skin lesions observed on the ventral skin of captive Archey's frogs (Leiopelma archeyi) between 2000 and 2012, and to investigate their occurrence, possible aetiology and association with survival. METHODS: Postmortem skin samples were obtained for histological evaluation from 37 frogs, with and without skin lesions, that died while in captivity at Auckland Zoo between 2000 and 2012. Four frogs with skin lesions were biopsied under general anaesthesia and samples used for both light and transmission electron microscopy...
November 30, 2016: New Zealand Veterinary Journal
https://www.readbyqxmd.com/read/27827380/carriers-with-functional-null-mutations-in-lama3-have-localized-enamel-abnormalities-due-to-haploinsufficiency
#10
Katarzyna B Gostyńska, Wing Yan Yuen, Anna Maria Gerdina Pasmooij, Cornelius Stellingsma, Hendri H Pas, Henny Lemmink, Marcel F Jonkman
The hereditary blistering disease junctional epidermolysis bullosa (JEB) is always accompanied by structural enamel abnormalities of primary and secondary dentition, characterized as amelogenesis imperfecta. Autosomal recessive mutations in LAMA3, LAMB3 and LAMC2 encoding the heterotrimer laminin 332 (LM-332) are among the genes causing JEB. While examining pedigrees of JEB patients with LAMA3 mutations, we observed that heterozygous carriers of functional null mutations displayed subtle enamel pitting in the absence of skin fragility or other JEB symptoms...
November 9, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27813154/epidermolysis-bullosa-with-pyloric-atresia-and-significant-urologic-involvement
#11
Gregory D Walker, Meghan Woody, Elizabeth Orrin, Jemima E Mellerio, Moise L Levy
Epidermolysis bullosa (EB) is a rare inherited disease that causes epidermal fragility, blistering, and erosions. EB results from a variety of mutations in proteins of the skin and mucous membranes of the body. Mutations in plectin a protein involved in hemidesmosome integrity and function, are associated with subtypes of EB, including EB with pyloric atresia and EB with muscular dystrophy. We present two cases of EB with significant urologic involvement resulting from mutations in plectin.
November 4, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27798626/stabilizing-mutations-of-klhl24-ubiquitin-ligase-cause-loss-of-keratin-14-and-human-skin-fragility
#12
Zhimiao Lin, Shuo Li, Cheng Feng, Shang Yang, Huijun Wang, Danhui Ma, Jing Zhang, Mengting Gou, Dingfang Bu, Tengjiang Zhang, Xiaohui Kong, Xintong Wang, Ofer Sarig, Yali Ren, Lanlan Dai, Hankui Liu, Jianguo Zhang, Fei Li, Yongyan Hu, Gilly Padalon-Brauch, Dan Vodo, Feng Zhou, Ting Chen, Haiteng Deng, Eli Sprecher, Yong Yang, Xu Tan
Skin integrity is essential for protection from external stress and trauma. Defects in structural proteins such as keratins cause skin fragility, epitomized by epidermolysis bullosa (EB), a life-threatening disorder. Here we show that dominant mutations of KLHL24, encoding a cullin 3-RBX1 ubiquitin ligase substrate receptor, cause EB. We have identified start-codon mutations in the KLHL24 gene in five patients with EB. These mutations lead to truncated KLHL24 protein lacking the initial 28 amino acids (KLHL24-ΔN28)...
December 2016: Nature Genetics
https://www.readbyqxmd.com/read/27798104/uv-b-induced-cutaneous-inflammation-and-prospects-for-antioxidant-treatment-in-kindler-syndrome
#13
Kristin Maier, Yinghong He, Ute Wölfle, Philipp R Esser, Tilman Brummer, Christoph Schempp, Leena Bruckner-Tuderman, Cristina Has
Kindler syndrome (KS), a rare, autosomal recessive disorder comprises mechanical skin fragility and photosensitivity, which manifest early in life. The progression of the disorder is irreversible and results in tissue damage in form of cutaneous and mucosal atrophy and scarring and epithelial cancers. Here we unravel molecular mechanisms of increased UV-B sensitivity of keratinocytes derived from KS patients. We show that the pro-inflammatory cytokines, IL-1ß, IL-6 and TNF-α, are upregulated in KS skin and in UV-B irradiated KS keratinocytes...
October 23, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27777746/dermatosparaxis-in-two-limousin-calves
#14
Catherine I Carty, Alison M Lee, Nathan A E Wienandt, Edward L Stevens, Derron A Alves, John A Browne, Jill Bryan, Eoin G Ryan, Joseph P Cassidy
BACKGROUND: An unusual presentation of skin disease was identified in two related neonatal Pedigree Limousin calves presented to University Veterinary Hospital, University College Dublin, following detailed post mortem examination a diagnosis of dermatosparaxis was made. Dermatosparaxis in animals or Ehlers Danlos Syndrome, which is the analogous condition seen in humans, is a connective tissue disorder characterised by extreme skin fragility. To the authors' knowledge this is the first report of such a diagnosis in the Limousin breed and the features of this lethal phenotype were severe in comparison to previous reports of the condition...
2016: Irish Veterinary Journal
https://www.readbyqxmd.com/read/27772543/stem-cell-therapy-for-epidermolysis-bullosa-does-it-work
#15
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
https://www.readbyqxmd.com/read/27771901/impaired-mitochondrial-function-and-dynamics-in-the-pathogenesis-of-fxtas
#16
M I Alvarez-Mora, L Rodriguez-Revenga, I Madrigal, M Guitart-Mampel, G Garrabou, M Milà
Mitochondrial involvement plays an important role in neurodegenerative diseases. At least one-third of adult carriers of a FMR1 premutation (55-200 CGG repeats) are at risk of presenting an adult-onset neurodegenerative disorder known as fragile X-associated tremor/ataxia syndrome (FXTAS). In an attempt to provide new insights into the mechanisms involved in the pathogenesis of FXTAS, we characterized mitochondrial function and dynamics by the assessment of oxidative respiratory chain function, mitochondrial content, oxidative stress levels, and mitochondrial network complexity...
October 22, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27746405/computed-tomography-examination-and-mitochondrial-dna-analysis-of-japanese-wolf-skull-covered-with-skin
#17
Naotaka Ishiguro, Yasuo Inoshima, Motoki Sasaki
A Canis skull, right half of the mandible and part of the left half of the mandible were subjected to three-dimensional (3D) computed tomography (CT) observation and mitochondrial DNA (mtDNA) analysis in order to determine whether the specimens belonged to the extinct Japanese wolf, Canis lupus hodophilax (Temminck, 1839). Osteometric analysis of the skull and right half of the mandible revealed that the material (JW275) was indeed typical of the Japanese wolf. Sequence analysis of a 600-bp mtDNA region revealed that the JW275 belonged to haplotype Group B, which is characterized by an 8-bp deletion in the mtDNA control region...
October 15, 2016: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/27745832/periodontal-ehlers-danlos-syndrome-is-caused-by-mutations-in-c1r-and-c1s-which-encode-subcomponents-c1r-and-c1s-of-complement
#18
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, Timothy J Aitman, Ann Nordgren, Heribert Stoiber, Nicole Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael Dorschner, Marcus Schmitt-Egenolf, Christopher J Hale, David Hanna, Hans Christian Hennies, Irene Heiss-Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L Mitchell, Deborah A Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcova, Ruwan Weerakkody, Margaret Yang, F Michael Pope, Peter H Byers, Johannes Zschocke
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27730671/a-novel-homozygous-deletion-in-exph5-causes-a-skin-fragility-phenotype
#19
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
https://www.readbyqxmd.com/read/27725201/kind1-loss-sensitizes-keratinocytes-to-uv-induced-inflammatory-response-and-dna-damage
#20
Xiaoling Zhang, Suju Luo, Joseph Wu, Long Zhang, Wen-Hui Wang, Simone Degan, Detlev Erdmann, Russell Hall, Jennifer Y Zhang
Loss-of-function of KIND1, a cytoskeletal protein involved in β1-integrin function, causes Kindler Syndrome (KS), a genetic disease characterized by skin fragility, photosensitivity and increased risk of squamous cell carcinoma (SCC). Dysregulation of β1-integrin underlies KS skin fragility. However, the mechanisms underlying SCC susceptibility are unclear. Here, we demonstrate that gene silencing of KIND1 decreased keratinocyte proliferation and increased apoptosis in vitro and in skin grafts regenerated on mice, which was correlated with reduced cyclinB1...
October 7, 2016: Journal of Investigative Dermatology
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