keyword
MENU ▼
Read by QxMD icon Read
search

disorder of keratinization

keyword
https://www.readbyqxmd.com/read/29215326/the-role-of-fabp5-in-radiation-induced-human-skin-fibrosis
#1
Jianyuan Song, Huojun Zhang, Zhenyu Wang, Wanglei Xu, Li Zhong, Jinming Cao, Jianfeng Yang, Ye Tian, Daojiang Yu, Jiang Ji, Jianping Cao, Shuyu Zhang
Radiation-induced skin fibrosis is a detrimental and chronic disorder that occurs after radiation exposure. The molecular changes underlying the pathogenesis of radiation-induced fibrosis of human skin have not been extensively reported. Technical advances in proteomics have enabled exploration of the biomarkers and molecular pathogenesis of radiation-induced skin fibrosis, with the potential to broaden our understanding of this disease. In this study, we compared protein expression in radiation-induced fibrotic human skin and adjacent normal tissues using iTRAQ-based proteomics technology...
December 7, 2017: Radiation Research
https://www.readbyqxmd.com/read/29194784/inflammatory-disseminated-superficial-porokeratosis-successfully-controlled-with-a-combination-of-topical-diclofenac-gel-and-systemic-etretinate
#2
Satoko Shimizu, Yuka Takashima, Moeko Hotta, Eri Ito, Reine Moriuchi
Porokeratosis is an uncommon keratinization disorder characterized clinically by annular keratotic plaques and histologically by cornoid lamella, a vertical stack of parakeratotic corneocytes within the horny layer. Disseminated superficial porokeratosis (DSP) manifests with several to hundreds of small annular lesions on sun-exposed and non-sun-exposed body areas [1]. Recently, unusual cases of DSP accompanied by severe pruritus and inflammation have been reported as inflammatory DSP [2, 3]. Here, we report a case of inflammatory DSP successfully controlled with topical diclofenac gel and oral etretinate...
December 1, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29194782/acral-lamellar-ichthyosis-expanding-the-phenotype-of-temperature-sensitive-keratinization-disorders
#3
Hiram de Almeida, Cristina Has, Judith Fischer, Ingrid Hausser
Lamellar ichthyosis is a MEDOC (Mendelian disorders of cornification) that belongs to the ARCI group (Autosomal recessive congenital ichthyosis) 1 , characterized by large brownish scaly lesions tightly adherent, with typical involvement of the face, which may lead to ectropion. Mutations in at least 12genes have been described in the ARCI group2 . This article is protected by copyright. All rights reserved.
December 1, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29162886/association-of-human-leukocyte-antigen-class-1-genes-with-stevens-johnson-syndrome-with-severe-ocular-complications-in-an-indian-population
#4
Chitra Kannabiran, Mayumi Ueta, Virender Sangwan, Varsha Rathi, Sayan Basu, Katsushi Tokunaga, Shigeru Kinoshita
Stevens Johnson syndrome (SJS) is part of a spectrum of adverse drug reactions resulting in the destruction of skin, mucous membranes, and the ocular surface. A similar, more severe form of the disorder included in this spectrum is toxic epidermal necrolysis (TEN). Approximately 35% of patients suffer chronic sequelae such as vascularization, corneal scarring, conjunctival inversion to the cornea, keratinization, symblepharon, scarring of the palpebral conjunctiva, trichiasis, and severe dry eye. We focused on 80 Indian patients with SJS/TEN with severe ocular complications (SOC) and investigated the association of alleles at HLA -A, HLA-B and HLA-C loci; the controls were 50 healthy Indian volunteers...
November 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29147823/primary-peri-implant-oral-intra-epithelial-neoplasia-carcinoma-in-situ-a-case-report-considering-risk-factors-for-carcinogenesis
#5
Makoto Noguchi, Hiroaki Tsuno, Risa Ishizaka, Kumiko Fujiwara, Shuichi Imaue, Kei Tomihara, Takashi Minamisaka
BACKGROUND: Major risk factors for oral squamous cell carcinoma (SCC) are tobacco smoking, a betel quid chewing habit, and heavy alcohol consumption. However, around 15% of oral SCCs cannot be explained by these risk factors. Although oral SCC associated with dental implants is quite rare, there has been a recent gradual accumulation of reports about it. Here, we report a case of primary peri-implant oral intra-epithelial neoplasia/carcinoma in situ (OIN/CIS) in a woman without the major risk factors for oral SCC...
November 16, 2017: International Journal of Implant Dentistry
https://www.readbyqxmd.com/read/29140387/full-mouth-rehabilitation-with-calvarium-bone-grafts-and-dental-implants-for-a-papillon-lef%C3%A3-vre-syndrome-patient-case-report
#6
Bassam M Kinaia, Kristyn Hope, Ahmed Zuhaili, Jean Francois Tulasne
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization associated with palmoplantar keratoderma and severe periodontitis resulting in complete edentulism in late adolescence. The pathognomonic dental features of PLS are pathologic migration, hypermobility, and exfoliation of the teeth without any signs of root resorption. It has been suggested that an effective way to treat PLS patients presenting early in the disease progression is extraction of the erupted primary dentition or hopeless permanent teeth followed by antibiotic coverage with periodontal therapy for the remaining teeth...
November 2017: International Journal of Oral & Maxillofacial Implants
https://www.readbyqxmd.com/read/29131243/photodynamic-therapy-with-5-aminolevulinic-acid-suppresses-ifn-%C3%AE-induced-k17-expression-in-hacat-cells-via-mapk-pathway
#7
X-L Wang, Q Sun
OBJECTIVE: Psoriasis is a chronic inflammatory skin disorder that greatly affects the patient's quality of life. Photodynamic therapy (PDT) with 5-aminolevulinic acid (ALA) has recently been applied for inflammatory dermatoses including psoriasis. However, the therapeutic effect of ALA-PDT is yet to be validated, and the underlying mechanisms remain unclear. MATERIALS AND METHODS: In this study, a psoriatic model was established by treating HaCaT cells with 250 U/ml IFN-γ for 48 h...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29098103/cochlear-implantation-in-patients-with-keratitis-ichthyosis-deafness-syndrome-a-report-of-two-cases
#8
Birgul Gumus, Armagan Incesulu, Mehmet Ozgur Pinarbasli
Background: Keratitis-ichthyosis-deafness (KID) syndrome is a syndrome which presents with hearing loss and visual and keratinization disorders. In such patients, hearing aids cannot be effectively used in the rehabilitation of hearing loss because of the frequent blockage of the external ear canal with epithelial debris and due to dry and tense skin of the external ear canal. Moreover, severe or profound hearing loss also limits the benefits gained from the conventional hearing aids...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/29090033/first-report-of-pachyonychia-congenita-type-pc-k6a-in-the-romanian-population
#9
Anca Chiriac, Cristina Rusu, Alina Murgu, Anca E Chiriac, Neil J Wilson, Frances J D Smith
Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. The predominant clinical findings include plantar keratoderma, plantar pain and variable dystrophy of some or all toenails and/ or fingernails...
June 2017: Mædica
https://www.readbyqxmd.com/read/29077501/management-of-plantar-keratodermaslessons-from-pachyonychia-congenita
#10
Rebecca M Porter, Albert A Bravo, Frances J D Smith
Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. However, there are frequent cases of plantar keratoderma that occur in isolation...
September 2017: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/29054605/increased-prevalence-of-filaggrin-deficiency-in-51-patients-with-recessive-x-linked-ichthyosis-presenting-for-dermatological-examination
#11
Kira Süßmuth, Robert Gruber, Elke Rodriguez, Heiko Traupe, Susanne Amler, Alberto Sánchez-Guijo, Frederic Valentin, Tatjana Tarinski, Natalia Straub, Dieter Metze, Stefan W Schneider, Ingrid Hausser, Hansjörg Baurecht, Stephan Weidinger, Vinzenz Oji
X-linked ichthyosis (XLI) is a keratinization disorder caused by deficient activity of steroidsulfatase. In contrast, ichthyosis vulgaris is due to semidominant mutations of the filaggrin gene (FLG). In view of phenotypic variations of these ichthyoses we speculated that XLI may be influenced by additional FLG mutations in a significant number of patients. We characterized a group of 51 patients with XLI and systematically analyzed them for additional FLG mutations (R501X, 2282del4, R2447X, S3247X). The study was complemented by morphological analyses...
October 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29050444/treatment-of-ichthyosis-vulgaris-with-a-urea-based-emulsion-videodermatoscopy-and-confocal-microscopy-evaluation
#12
Clara Benintende, Simona Boscaglia, Franco Dinotta, Francesco Lacarrubba, Giuseppe Micali
BACKGROUND: Ichthyosis vulgaris is a common disorder of keratinization caused by mutations in the filaggrin gene and clinically characterized by variable degree of xerosis. METHODS: Five patients affected by ichthyosis vulgaris and moderate to severe xerosis of the lower limbs, were treated twice daily for 30 days with an emulsion containing 10% urea, ceramides, and natural moisturizing factors (NMF). Evaluation was performed at baseline and at the end of treatment by clinical examination, Visual Analogue Scale to quantify itch, videodermatoscopy (VD), and reflectance confocal microscopy (RCM)...
December 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29047160/mutations-in-the-genes-for-keratin-4-and-13-in-swedish-patients-with-white-sponge-nevus
#13
Maria Westin, Elham Rekabdar, Lena Blomstrand, Per Klintberg, Mats Jontell, Jairo Robledo-Sierra
BACKGROUND: White sponge nevus is a rare autosomal dominant disorder that affects the non-keratinised stratified squamous epithelium. Mutations in the genes that encode mucosa-specific keratins 4 and 13 are strongly linked to the manifestation of white sponge nevus. This study involved mutational analysis of the genes encoding keratin-4 and keratin-13 in two Swedish families with white sponge nevus. METHODS: The diagnosis of white sponge nevus was based on disease history, clinical characteristics of the lesions and, in the majority of the cases, histopathological examination...
October 19, 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29027377/contribution-of-extracellular-matrix-and-signal-mechanotransduction-to-epithelial-cell-damage-in-inflammatory-bowel-disease-patients-a-proteomic-study
#14
Manuela Moriggi, Luca Pastorelli, Enrica Torretta, Gian Eugenio Tontini, Daniele Capitanio, Stefano Ferrero Bogetto, Maurizio Vecchi, Cecilia Gelfi
This study utilized 2D-DIGE, isotope-coded protein labelling (ICPL) and biochemical assays to characterize protein alteration in Ulcerative Colitis (UC) and Crohn's Disease (CD) in human epithelial cell and mucosal biopsies in Inflammatory Bowel Disease (IBD)-affected patients. The aim of this study is to identify the key molecular signatures involved in epithelial cell structure of IBDs. In non-inflamed UC (QUC) keratins, vimentin and FAK increased, whereas vinculin and de-tyrosinated α-tubulin decreased; inflammation (IUC) exacerbated molecular changes, being COL6A1, tenascin-C and vimentin increased...
October 13, 2017: Proteomics
https://www.readbyqxmd.com/read/28979865/a-prospective-study-of-clinical-profile-in-patients-of-palmoplantar-dermatoses
#15
Pragya A Nair, Nilofar G Diwan, Rochit Singhal, Rita V Vora
BACKGROUND: Palms and soles are the readily visible areas of the body that are affected in various dermatoses. This may have considerable concern to the patient and can cause diagnostic dilemma. Moreover, palmoplantar dermatoses also limit our day to day activities with a significant impact on quality of life. AIM: To study the clinical profile of patients suffering from palmoplantar dermatoses at a tertiary care centre. PATIENTS AND METHODS: A prospective observational study was carried out from June 2014 to May 2015 in the Department of Dermatology, Venerology and Leprosy at a rural tertiary care centre after taking approval from the institutional ethical committee...
September 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28944608/coexistence-of-mutations-in-keratin-10-krt10-and-the-mitochondrial-genome-in-a-patient-with-ichthyosis-with-confetti-and-leber-s-hereditary-optic-neuropathy
#16
Agnieszka Kalinska-Bienias, Agnieszka Pollak, Cezary Kowalewski, Urszula Lechowicz, Piotr Stawinski, Aleksandra Gergont, Joanna Kosinska, Ewa Pronicka, Pawel Kowalski, Katarzyna Wozniak, Rafal Ploski
Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho-neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti-like spots at the age of 16...
November 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28940220/t-helper-immune-phenotype-may-underlie-paradoxical-tumour-necrosis-factor-%C3%AE-inhibitor-therapy-related-psoriasiform-dermatitis
#17
A P Moy, M Murali, D Kroshinsky, T D Horn, R M Nazarian
BACKGROUND: Therapeutics targeting tumour necrosis factor (TNF)-α are effective for psoriasis; however, in patients treated for other disorders, psoriasis may worsen and psoriasiform dermatitis (PsoD) may arise. T helper (Th) cytokines in psoriasis upregulate keratin (K)17, which modulates TNF-α transduction, leading to vascular adhesion molecule upregulation and lymphocytic extravasation. AIM: We investigated Th phenotype and expression of K17, intercellular adhesion molecule (ICAM)-1 and vascular adhesion molecule (VCAM)-1 in psoriasis and anti-TNF-α-related PsoD...
September 22, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28921696/exome-sequencing-identifies-a-tcf4-mutation-in-a-chinese-pedigree-with-symmetrical-acral-keratoderma
#18
Pingjiao Chen, Silong Sun, Kang Zeng, Changxing Li, Ju Wen, Jingyao Liang, Xin Tian, Yiqi Jiang, Jing Zhang, Sanquan Zhang, Kai Han, Chunlei Han, Xibao Zhang
BACKGROUND: Symmetrical acral keratoderma (SAK) is a rare skin disorder and its pathogenesis and inheritability are unknown. OBJECTIVES: To investigate the inheritance and pathogenesis of SAK. METHODS: Four SAK cases occurred in a four-generation Chinese family. Exome sequencing identified SNPs with potential SAK related mutations, and a potentially responsible gene (Transcription factor 4, TCF4) was identified. TCF4 was then sequenced in all 11 family members and pedigree analysis was performed...
September 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28892761/ethyl-glucuronide-in-keratinous-matrices-as-biomarker-of-alcohol-use-a-correlation-study-between-hair-and-nails
#19
Delphine Cappelle, Hugo Neels, Steven De Keukeleire, Erik Fransen, Geert Dom, Annemie Vermassen, Adrian Covaci, Cleo L Crunelle, Alexander L N van Nuijs
To quantify alcohol use, objective, specific and sensitive long-term alcohol markers are necessary. Ethyl glucuronide (EtG), a direct metabolite of alcohol, accumulates in keratinous matrices such as hair and nails, and is a specific and sensitive long-term biomarker for the detection of chronic alcohol consumption. So far, research has primarily focused on the detection of EtG in hair, and studies on its measurement in nails are scarce. In this article, we assessed EtG concentrations in hair, finger- and toenails from the same individuals in order to evaluate the direct correlation between the matrices...
October 2017: Forensic Science International
https://www.readbyqxmd.com/read/28888469/cut-and-paste-efficient-homology-directed-repair-of-a-dominant-negative-krt14-mutation-via-crispr-cas9-nickases
#20
Thomas Kocher, Patricia Peking, Alfred Klausegger, Eva Maria Murauer, Josefina Piñón Hofbauer, Verena Wally, Thomas Lettner, Stefan Hainzl, Michael Ablinger, Johann Wolfgang Bauer, Julia Reichelt, Ulrich Koller
With the ability to induce rapid and efficient repair of disease-causing mutations, CRISPR/Cas9 technology is ideally suited for gene therapy approaches for recessively and dominantly inherited monogenic disorders. In this study, we have corrected a causal hotspot mutation in exon 6 of the keratin 14 gene (KRT14) that results in generalized severe epidermolysis bullosa simplex (EBS-gen sev), using a double-nicking strategy targeting intron 7, followed by homology-directed repair (HDR). Co-delivery into EBS keratinocytes of a Cas9 D10A nickase (Cas9n), a predicted single guide RNA pair specific for intron 7, and a minicircle donor vector harboring the homology donor template resulted in a recombination efficiency of >30% and correction of the mutant KRT14 allele...
November 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
keyword
keyword
93298
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"