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https://www.readbyqxmd.com/read/29610398/types-i-and-ii-keratin-intermediate-filaments
#1
REVIEW
Justin T Jacob, Pierre A Coulombe, Raymond Kwan, M Bishr Omary
SummaryKeratins-types I and II-are the intermediate-filament-forming proteins expressed in epithelial cells. They are encoded by 54 evolutionarily conserved genes (28 type I, 26 type II) and regulated in a pairwise and tissue type-, differentiation-, and context-dependent manner. Here, we review how keratins serve multiple homeostatic and stress-triggered mechanical and nonmechanical functions, including maintenance of cellular integrity, regulation of cell growth and migration, and protection from apoptosis...
April 2, 2018: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/29581863/reduced-smad2-3-activation-independently-predicts-increased-depth-of-human-cutaneous-squamous-cell-carcinoma
#2
Aidan M Rose, Lindsay C Spender, Christopher Stephen, Alastair Mitchell, William Rickaby, Susan Bray, Alan T Evans, Jasbani Dayal, Karin J Purdie, Catherine A Harwood, Charlotte M Proby, Irene M Leigh, Philip J Coates, Gareth J Inman
The incidence of cutaneous squamous cell carcinoma (cSCC) is rising. Whilst the majority are cured surgically, aggressive metastatic cSCC carry a poor prognosis. Inactivating mutations in transforming growth factor beta (TGF-β) receptors have been identified amongst genetic drivers of sporadic tumours and murine models of cSCC, suggesting a tumour suppressor function for TGF-β in normal skin. However, paradoxically, TGF-β acts as a tumour promoter in some murine model systems. Few studies have analysed the role of TGF-β/activin signalling in human normal skin, hyper-proliferative skin disorders and cSCC...
March 6, 2018: Oncotarget
https://www.readbyqxmd.com/read/29578425/new-approaches-in-the-diagnostic-of-ichthyosis-disorders
#3
S Dmytrenko, M Shinkaruk-Dykovytska, S Vernygorodskyi, T Tepla
The aim of this study was to study the macroscopic changes in the skin of patients with various forms of ichthyosis to improve and optimize treatment. A comprehensive examination of 12 patients with ichthyosis under the supervision of a dermatovenereologist was conducted at VOKSHVD. For the diagnosis of macroscopic skin changes, the dermatoscopy was performed by the HEINE DELTA 20 ® (Germany) apparatus, the results were recorded with a Canon 550D camera (Japan) at 1:35 or 1:30, with a sensitivity of IZO 200 using an adapter included with the dermatoscope...
February 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29574966/burnlike-scars-a-sign-suggestive-of-klhl24-related-epidermolysis-bullosa-simplex
#4
Azzam Alkhalifah, Christine Chiaverini, Alexandra Charlesworth, Cristina Has, Jean-Philippe Lacour
Epidermolysis bullosa simplex is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT5 and KRT14 underlie the majority of reported cases. Mutations in KLHL24, a gene that encodes KLHL24 protein, have been reported recently to cause a generalized subtype of epidermolysis bullosa simplex, presumably by increasing the degradation of keratin 14. We describe a case of KLHL24-related epidermolysis bullosa simplex and highlight the burn-like pattern of scars...
March 25, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29567352/mechanical-forces-in-skin-disorders
#5
REVIEW
Chao-Kai Hsu, Hsi-Hui Lin, Hans I-Chen Harn, Michael W Hughes, Ming-Jer Tang, Chao-Chun Yang
Mechanical forces are known to regulate homeostasis of the skin and play a role in the pathogenesis of skin diseases. The epidermis consists of keratinocytes that are tightly adhered to each other by cell junctions. Defects in keratins or desmosomal/hemidesmosomal proteins lead to the attenuation of mechanical strength and formation of intraepidermal blisters in the case of epidermolysis bullosa simplex. The dermis is rich in extracellular matrix, especially collagen, and provides the majority of tensile force in the skin...
March 8, 2018: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29556238/immunotopographical-differences-of-human-skin
#6
Gabriella Béke, Zsolt Dajnoki, Anikó Kapitány, Krisztián Gáspár, Barbara Medgyesi, Szilárd Póliska, Zoltán Hendrik, Zoltán Péter, Dániel Törőcsik, Tamás Bíró, Andrea Szegedi
The immunological barrier of the healthy skin is considered to be unified on the whole body surface-however, recent indirect findings have challenged this dogma since microbial and chemical milieu (e.g., sebum, sweat, and pH) exhibit remarkable differences on topographically distinct skin areas. Therefore, in the present study, we performed whole transcriptomic and subsequent pathway analyses to assess differences between sebaceous gland rich (SGR) and sebaceous gland poor (SGP) regions. Here, we provide the first evidence that different skin regions exhibit a characteristic innate and adaptive immune and barrier milieu as we could detect significantly increased chemokine (CCL2, 3, 19, 20, 23, 24) and antimicrobial peptide (S100A7, A8, A9, lipocalin, β-defensin-2) expression, altered barrier (keratin 17, 79) functions, and a non-inflammatory Th17/IL-17 dominance in SGR skin compared to SGP...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29538740/new-insights-in-dermatophyte-research
#7
Yvonne Gräser, Michel Monod, Jean-Philippe Bouchara, Karolina Dukik, Pietro Nenoff, Alexandra Kargl, Christiane Kupsch, Ping Zhan, Ann Packeu, Vishnu Chaturvedi, Sybren de Hoog
Dermatophyte research has renewed interest because of changing human floras with changing socioeconomic conditions, and because of severe chronic infections in patients with congenital immune disorders. Main taxonomic traits at the generic level have changed considerably, and now fine-tuning at the species level with state-of-the-art technology has become urgent. Research on virulence factors focuses on secreted proteases now has support in genome data. It is speculated that most protease families are used for degrading hard keratin during nitrogen recycling in the environment, while others, such as Sub6 may have emerged as a result of ancestral gene duplication, and are likely to have specific roles during infection...
April 1, 2018: Medical Mycology: Official Publication of the International Society for Human and Animal Mycology
https://www.readbyqxmd.com/read/29500825/case-of-punctate-palmoplantar-keratoderma-type-i-treated-with-combination-of-low-dose-oral-acitretin-and-topical-salicylic-acid-and-steroid
#8
Jeong Won Jo, Do Seon Jeong, Chi Yeon Kim
Palmoplantar keratodermas (PPK) are heterogeneous disorders characterized by abnormal keratinization. Especially, punctate PPK (PPPK), one of the subtypes of hereditary PPK, is a rare punctate keratoderma characterized by tiny "raindrop" keratoses having a tendency to coalesce on the edge of soles, which are exposed to sustained pressure. If typical punctate lesions are confined to the palms and soles and the patient has a family history and late onset, it can be considered as PPPK type I (PPKP1), also called Buschke-Fisher-Brauer disease...
March 3, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29477734/card14-associated-papulosquamous-eruption-a-spectrum-including-features-of-psoriasis-and-pityriasis-rubra-pilaris
#9
Brittany G Craiglow, Lynn M Boyden, Ronghua Hu, Marie Virtanen, John Su, Gabriela Rodriguez, Catherine McCarthy, Paula Luna, Margarita Larralde, Stephen Humphrey, Kristen E Holland, Marcia Hogeling, Benjamin Hidalgo-Matlock, Bruno Ferrari, Esteban Fernandez-Faith, Beth Drolet, Kelly M Cordoro, Anne M Bowcock, Richard J Antaya, Kurt Ashack, Richard J Ashack, Richard P Lifton, Leonard M Milstone, Amy S Paller, Keith A Choate
BACKGROUND: Heterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many subjects with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids, and tumor necrosis factor-α inhibitors. OBJECTIVE: We sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14...
March 1, 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29467580/history-of-morgellons-disease-from-delusion-to-definition
#10
REVIEW
Marianne J Middelveen, Melissa C Fesler, Raphael B Stricker
Morgellons disease (MD) is a skin condition characterized by the presence of multicolored filaments that lie under, are embedded in, or project from skin. Although the condition may have a longer history, disease matching the above description was first reported in the US in 2002. Since that time, the condition that we know as MD has become a polemic topic. Because individuals afflicted with the disease may have crawling or stinging sensations and sometimes believe they have an insect or parasite infestation, most medical practitioners consider MD a purely delusional disorder...
2018: Clinical, Cosmetic and Investigational Dermatology
https://www.readbyqxmd.com/read/29460532/lichen-planus-molecular-pathway-and-clinical-implications-in-oral-disorders
#11
M Boccellino, D Di Stasio, A Romano, M Petruzzi, A Lucchese, R Serpico, L Frati, M Di Domenico
Stem cells play a role in many mucosal disorders characterised by abnormal proliferation and differentiation of keratinocytes, such as oral lichen planus (OLP). In OLP there were changes in stem cell markers as component of integrin complexes α6 and β1 integrin increased along with increase of melanoma-associated chondroitin sulphate proteoglycan (MCSP) and decreased of notch1 (N1) and keratin 15 (K15). Stem cell marker expression may be altered by pathological signalling in these lesions. Cadherins are transmembrane receptors that provide cell-cell contact and communication function through calcium-dependent homophilic and heterophilic interactions...
January 2018: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29440855/circle-hairs-involving-the-extremities-in-a-young-girl
#12
Pragya Ashok Nair, Trusha Patel, Radhika Navadiya
Circle hairs (CHs) represent a body hair growth disorder which is characterized by asymptomatic presence of hairs in typical circular or spiraliform arrangement. It is not associated with follicular or inflammatory abnormalities. CHs are rarely reported, probably underestimated, as medical consultation for CH only is rare in practice. It needs to be differentiated from rolled hairs, which is a relatively common disorder of hair growth associated with follicular hyperkeratosis and keratin plugging. Trichoscopy is a noninvasive technique to confirm the diagnosis without biopsy...
January 2018: International Journal of Trichology
https://www.readbyqxmd.com/read/29436209/focus-on-gastroesophageal-reflux-ger-and-laryngopharyngeal-reflux-lpr-new-pragmatic-insights-in-clinical-practice
#13
M Gelardi, G Ciprandi
Gastroesophageal reflux (GER) is a common disease usually limited to the oesophagus. Laryngopharyngeal reflux (LPR) is an inflammatory reaction of the mucosa of pharynx, larynx, and other associated upper respiratory organs, caused by a reflux of stomach contents outside the oesophagus. LPR is considered to be a relatively new clinical entity with a vast number of clinical manifestations which are treated sometimes empirically and without a correct diagnosis. However, there is disagreement between specialists about its definition and management: gastroenterologists consider LPR to be a substantially rare manifestation of gastroesophageal reflux disease (GERD), whereas otolaryngologists believe that LPR is an independent, but common in their practice, disorder...
January 2018: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29422292/autoinflammatory-keratinization-diseases-an-emerging-concept-encompassing-various-inflammatory-keratinization-disorders-of-the-skin
#14
Masashi Akiyama, Takuya Takeichi, John A McGrath, Kazumitsu Sugiura
Classifying inflammatory skin diseases is challenging, especially for the expanding group of disorders triggered by genetic factors resulting in hyperactivated innate immunity that result in overlapping patterns of dermal and epidermal inflammation with hyperkeratosis. For such conditions, the umbrella term "autoinflammatory keratinization diseases" (AIKD) has been proposed. AIKD encompasses diseases with mixed pathomechanisms of autoinflammation and autoimmunity, and includes IL-36 receptor antagonist (IL-36Ra)-related pustulosis, CARD14-mediated pustular psoriasis, pityriasis rubra pilaris (PRP) type V, and familial keratosis lichenoides chronica (KLC)...
February 1, 2018: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29397027/hereditary-palmoplantar-keratodermas-part-ii-syndromic-palmoplantar-keratodermas-diagnostic-algorithm-and-principles-of-therapy
#15
REVIEW
L Guerra, M Castori, B Didona, D Castiglia, G Zambruno
Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development...
February 3, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29357356/genetic-variants-in-pachyonychia-congenita-associated-keratins-increase-susceptibility-to-tooth-decay
#16
Olivier Duverger, Jenna C Carlson, Chelsea M Karacz, Mary E Schwartz, Michael A Cross, Mary L Marazita, John R Shaffer, Maria I Morasso
Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. We further demonstrated that these keratins are produced by ameloblasts and are incorporated into mature human enamel...
January 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29277919/recessive-epidermolytic-ichthyosis-results-from-loss-of-keratin-10-expression-regardless-of-the-mutation-location
#17
D Vodo, O Sarig, A Peled, L Samuelov, N Malchin, M Grafi-Cohen, E Sprecher
Epidermolytic ichthyosis (EI) is a rare skin disorder caused by mutations in the genes KRT1 and KRT10, and is usually inherited in an autosomal dominant fashion. Only five recessive mutations causing EI have been described, all of which are located in the central region of the KRT10 gene. In the current study, we aimed to identify the genetic defect underlying EI in a 12-year-old patient. Direct sequencing of the patient's genomic DNA revealed a novel homozygous nonsense mutation residing within the proximal part KRT10 first exon...
March 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29277538/sexual-dimorphism-in-response-to-an-nrf2-inducer-in-a-model-for-pachyonychia-congenita
#18
Michelle L Kerns, Jill M C Hakim, Abigail Zieman, Rosemary G Lu, Pierre A Coulombe
Sex is an influential factor regarding pathophysiology and therapeutic response in human disease. Pachyonychia congenita is caused by mutations in keratin genes and typified by dystrophic lesions affecting nails, glands, oral mucosa, and palmar-plantar epidermis. Painful palmar-plantar keratoderma (PPK) severely impairs mobility in pachyonychia congenita. Mice genetically null for keratin 16 (Krt16), one of the genes mutated in pachyonychia congenita, develop pachyonychia congenita-like PPK. In male Krt16-/- mice, oxidative stress associated with impaired glutathione synthesis and nuclear factor erythroid-derived 2 related factor 2 (NRF2)-dependent gene expression precedes PPK onset, which can be prevented by topical sulforaphane-mediated activation of NRF2...
December 24, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29259625/prevalence-and-factors-associated-with-self-medication-in-dermatology-in-togo
#19
Koussake Kombaté, Julienne Noude Técléssou, Bayaki Saka, Abla Sefako Akakpo, Koudjouka Odette Tchangai, Abas Mouhari-Toure, Garba Mahamadou, Waguena Gnassingbé, Aurel Abilogun-Chokki, Palokinam Pitché
Objective: This study aimed to determine the prevalence of and factors associated with self-medication in dermatology in Lomé, Togo. Methods: We conducted an analytical cross-sectional study from February to April 2016 in 2 dermatology departments in Lomé. Univariate and multivariate logistic regression models were carried out to identify possible factors associated with self-medication. Results: A total of 711 patients were included in the study...
2017: Dermatology Research and Practice
https://www.readbyqxmd.com/read/29259558/modest-static-pressure-suppresses-columnar-epithelial-cell-growth-in-association-with-cell-shape-and-cytoskeletal-modifications
#20
Man Hagiyama, Norikazu Yabuta, Daisuke Okuzaki, Takao Inoue, Yasutoshi Takashima, Ryuichiro Kimura, Aritoshi Ri, Akihiko Ito
Intraluminal pressure elevation can cause degenerative disorders, such as ileus and hydronephrosis, and the threshold is fairly low and constant, 20-30 cm H2 O. We previously devised a novel two-chamber culture system subjecting cells cultured on a semipermeable membrane to increased culture medium height (water pressure up to 60 cm H2 O). Here, we sought to determine how a continuous pressure load of ~30 cm H2 O affects proliferating epithelial cells with special interest in the link with cell morphology. We cultured several different cell lines using the low static pressure-loadable two-chamber system, and examined cell growth, cell cycle, and cell morphology...
2017: Frontiers in Physiology
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