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https://www.readbyqxmd.com/read/28329587/a-case-and-review-of-congenital-leukonychia
#1
Akhilesh S Pathipati, Justin M Ko, John M Yost
Leukonychia refers to a white discoloration of the nails. Although several conditions may cause white nails, a rare, isolated, congenital form of the disease is hypothesized to stem from disordered keratinization of the nail plate. Herein, we report a case of a 41-year-old woman with congenital leukonychia and review prior cases.
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329543/herpes-simplex-virus-in-erythrokeratoderma-variabilis
#2
Shields Callahan, Euphemia Mu, Randie H Kim, Shane A Meehan, Paul Possick
We report a 48 -year-old woman witherythrokeratoderma variabilis, which is a rarehereditary disorder of keratinization, who developednew, painful, blisters within her skin lesions. Thediagnosis of herpes simplex virus infection was madebased on the clinical history and histopathologicfeatures. She was successfully treated withprophylactic valacyclovir, and her herpetic outbreakshave halted. This case serves as a reminder thateven among the most rare skin disorders, commonsecondary complications may be easily overlooked...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28300920/porokeratosis-of-mibelli-in-an-hiv-positive-patient
#3
Luiza de Queiroz Ottoni, Priscila Kakizaki, Rafael Ribeiro Pinheiro, José Alexandre de Souza Sittart, Neusa Yuriko Sakai Valente
Porokeratosis represents a group of disorders of epidermal keratinization that are characterized by one or more annular plaques surrounded by a histologically distinctive hyperkeratotic ridge-like border called the cornoid lamella. Many studies showed that organ transplantation and immunosuppression were associated in a significant number of cases. Furthermore, an association with squamous cell carcinoma and basal cell carcinoma has been noted in all variants of porokeratosis. The rarity of this disorder and its atypical clinical presentation - a single lesion on the thumb of an HIV-positive male patient - motivated this report...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28300916/porokeratosis-simulating-bowen-s-disease-on-dermoscopy
#4
Alzinira Sousa Herênio, Silvana Maria de Morais Cavalcanti, Emmanuel Rodrigues de França, Clarissa Marques Maranhão, Eliane Ruth Barbosa de Alencar
Porokeratosis is a disorder of epidermal keratinization characterized by the presence of annular hyperkeratotic plaques. Its etiopathogenesis is not yet fully understood, but a relationship with immunosuppression has been reported. Dermoscopic examination revealed a classic yellowish-white ring-like structure that resembled "volcanic crater contour" - the so-called cornoid lamella. We describe a case of porokeratosis in a female patient with chronic lymphedema, which was similar to Bowen's disease due to the many glomerular vessels seen on clinical examination and dermoscopy...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28299823/monilethrix-in-monozygotic-twins-with-very-rare-mutation-in-krt-86-gene
#5
B Nedoszytko, Z Lewicka-Potocka, A Szczerkowska-Dobosz, J Gleń, B Bykowska, J Świątecka-Czaj, R Nowicki
Monilethrix is a heretitary disorder, characterized by abnormal hair shafts with nodes and narrow internodes [1], typically caused by autosomal dominant mutations in type II hair keratin genes KRT 81, KRT 83 and KRT 86 [2-8]. Rarely, autosomal recessive mutation in desmoglein 4 gene may be responsible for the disease [9,10]. Among affected family members, symptoms may vary from almost normal scalp to alopecia, moreover the severity of the disease may change during patient life. This article is protected by copyright...
March 16, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28287404/mutations-in-%C3%AE-secretase-subunit-encoding-psenen-underlie-dowling-degos-disease-associated-with-acne-inversa
#6
Damian J Ralser, F Buket Ü Basmanav, Aylar Tafazzoli, Jade Wititsuwannakul, Sarah Delker, Sumita Danda, Holger Thiele, Sabrina Wolf, Michélle Busch, Susanne A Pulimood, Janine Altmüller, Peter Nürnberg, Didier Lacombe, Uwe Hillen, Jörg Wenzel, Jorge Frank, Benjamin Odermatt, Regina C Betz
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in KRT5, POFUT1, and POGLUT1 have been excluded. Further examination revealed that the histopathologic feature of follicular hyperkeratosis distinguished these 6 patients from previously studied individuals with DDD...
March 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28283894/treatment-of-porokeratosis-a-systematic-review
#7
REVIEW
Till Weidner, Tanja Illing, Diana Miguel, Peter Elsner
BACKGROUND: Porokeratosis (PK) is a rare skin disease of unknown etiology. It consists of a keratinization disorder, which may appear in several clinical forms and can undergo malignant transformation. The histopathological hallmark of PK is the cornoid lamella. While many topical, systemic, and surgical treatment modalities for PK have been described, no randomized controlled trials have been performed yet. Because of a lack of treatment standards for PK, European and international guidelines cannot be created...
March 10, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28223752/a-case-of-terra-firma-forme-dermatosis-treated-with-salicylic-acid-alcohol-peeling
#8
Sin Wook Chun, Suk Young Lee, Jong Baik Kim, Hoo Min Choi, Byung In Ro, Han Kyoung Cho
Terra firma-forme dermatosis (TFFD) is a bizarre, acquired and idiopathic dermatosis that etiology has still not been fully defined. It is characterized by the presence of asymptomatic, brownish dirt-like lesion maybe due to disorder of keratinization. These lesions cannot be removed with ordinary cleansing. Therefore, TFFD can be differentiated from dermatosis neglecta. Patient was a 17-year-old man with brownish lesions on his face for 1 month. The patient had a history of regular washing habit with soap and water...
February 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28121638/epidermolytic-ichthyosis-sine-epidermolysis
#9
Marina Eskin-Schwartz, Marianna Drozhdina, Ofer Sarig, Andrea Gat, Tomer Jackman, Ofer Isakov, Noam Shomron, Liat Samuelov, Natalia Malchin, Alon Peled, Dan Vodo, Alain Hovnanian, Thomas Ruzicka, Sergei Koshkin, Robert M Harmon, Jennifer L Koetsier, Kathleen J Green, Amy S Paller, Eli Sprecher
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI...
January 17, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28101863/lessons-from-animal-models-of-cytoplasmic-intermediate-filament-proteins
#10
Jamal-Eddine Bouameur, Thomas M Magin
Cytoplasmic intermediate filaments (IFs) represent a major cytoskeletal network contributing to cell shape, adhesion and migration as well as to tissue resilience and renewal in numerous bilaterians, including mammals. The observation that IFs are dispensable in cultured mammalian cells, but cause tissue-specific, life-threatening disorders, has pushed the need to investigate their function in vivo. In keeping with human disease, the deletion or mutation of murine IF genes resulted in highly specific pathologies...
2017: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/28056409/efficacy-of-metformin-in-human-single-hair-fibre-by-atr-ftir-spectroscopy-coupled-with-statistical-analysis
#11
Kamatchi Sundaramoorthi, Gunasekaran Sethu, Sailatha Ethirajulu, Pavithra Raja Marthandam
Diabetes mellitus is chronic metabolic disorder, resulting from insulin deficiency, characterized by hyperglycemia altered metabolism of carbohydrates, proteins and lipids and an increased risk of vascular complications. There are different classes of anti-diabetic drugs in allopathic system of medicine. Metformin (dimethyl biguanide) is a blood glucose lowering agent used in the treatment of non-insulin dependent diabetes mellitus. Almost in all diseases the blood serves as the primary metabolic transport system in the body...
March 20, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28043376/disorders-in-barrier-protein-mrna-expression-and-placenta-secretory-activity-under-the-influence-of-polychlorinated-biphenyls-in%C3%A2-vitro
#12
A Wojciechowska, J Mlynarczuk, J Kotwica
Pregnancy disorders are often correlated with the presence of organic pollutants in the tissues of living bodies. The aim of this study was to investigate the effects (over 24 and 48 hours) of polychlorinated biphenyls (PCBs) 153, 126, and 77 at doses of 1, 10, and 100 ng/mL on barrier function and secretory activity in cow placentome sections collected during the second trimester of pregnancy. None of the PCBs affected the viability of the sections (P > 0.05). Polychlorinated biphenyl 153 decreased (P < 0...
February 2017: Theriogenology
https://www.readbyqxmd.com/read/28000977/silac-based-quantitative-proteomic-analysis-reveals-widespread-molecular-alterations-in-human-skin-keratinocytes-upon-chronic-arsenic-exposure
#13
Sartaj Ahmad Mir, Sneha M Pinto, Somnath Paul, Remya Raja, Vishalakshi Nanjappa, Nazia Syed, Jayshree Advani, Santosh Renuse, Nandini A Sahasrabuddhe, T S Keshava Prasad, Ashok K Giri, Harsha Gowda, Aditi Chatterjee
Chronic exposure to arsenic is associated with dermatological and nondermatological disorders. Consumption of arsenic-contaminated drinking water results in accumulation of arsenic in liver, spleen, kidneys, lungs, and gastrointestinal tract. Although arsenic is cleared from these sites, a substantial amount of residual arsenic is left in keratin-rich tissues including skin. Epidemiological studies suggest the association of skin cancer upon arsenic exposure, however, the mechanism of arsenic-induced carcinogenesis is not completely understood...
October 19, 2016: Proteomics
https://www.readbyqxmd.com/read/27992514/induction-of-skin-derived-precursor-cells-from-human-induced-pluripotent-stem-cells
#14
Yoriko Sugiyama-Nakagiri, Tsutomu Fujimura, Shigeru Moriwaki
The generation of full thickness human skin from dissociated cells is an attractive approach not only for treating skin diseases, but also for treating many systemic disorders. However, it is currently not possible to obtain an unlimited number of skin dermal cells. The goal of this study was to develop a procedure to produce skin dermal stem cells from induced pluripotent stem cells (iPSCs). Skin-derived precursor cells (SKPs) were isolated as adult dermal precursors that could differentiate into both neural and mesodermal progenies and could reconstitute the dermis...
2016: PloS One
https://www.readbyqxmd.com/read/27984435/tissue-fluorescence-imaging-velscope-for-quick-non-invasive-diagnosis-in-oral-pathology
#15
Marco Cicciù, Alan Scott Herford, Gabriele Cervino, Giuseppe Troiano, Floriana Lauritano, Luigi Laino
Oral squamous cell carcinoma is the most common form of malignancy of the oral cavity; its incidence is increasing and late-stage presentation is common. It is usually predated by oral premalignant disorders. For this reason, early diagnosis is fundamental to reduce the malignant transformation of oral premalignant disorders and for increase the survival rate for oral cancer. Scraping the surface of the lesion is useful for having cytological features of the investigated tissue. The features of smears of oral premalignant lesions are the keratinization growth (red, orange, brown), the increased nuclear area and so the nuclear hyperchromatism, the nuclear pleomorphism, and the chromatin clumping...
March 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27965375/recessive-progressive-symmetric-erythrokeratoderma-results-from-a-homozygous-loss-of-function-mutation-of-krt83-and-is-allelic-with-dominant-monilethrix
#16
Khadim Shah, Muhammad Ansar, Zaib-Un-Nisa Mughal, Falak Sher Khan, Wasim Ahmad, Tracey M Ferrara, Richard A Spritz
BACKGROUND: Progressive symmetric erythrokeratoderma (PSEK) is a rare skin disorder characterised by symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques appearing over time. Most cases are inherited in an autosomal dominant manner, although a few cases exhibit apparent autosomal recessive inheritance. OBJECTIVE: To identify the gene underlying autosomal recessive PSEK in a large Pakistani kindred...
March 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27920816/concomitant-extraspinal-hyperostosis-and-osteoporosis-in-a-patient-with-congenital-ichthyosis
#17
Niloufar Torkamani, Pramit Phal, Ravi Savarirayan, Peter Simm, George Varigos, John Wark
Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. The most common types are: ichthyosis vulgaris, X-linked recessive ichthyosis, epidermolytic hyperkeratosis (bullous), lamellar ichthyosis and non-bullous ichthyosiform erythroderma...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27904268/clinicopathological-features-and-immunohistochemical-alterations-of-keratinocyte-proliferation-melanocyte-density-smooth-muscle-hyperplasia-and-nerve-fiber-distribution-in-becker-s-nevus
#18
Ping Sheng, Yun-Long Cheng, Chuan-Chuan Cai, Wei-Jin Guo, Ying Zhou, Ge Shi, Yi-Ming Fan
BACKGROUND: Although Becker's nevus (BN) is a relatively common disease, the systematic studies of clinicopathological and immunohistochemical results are poorly reported. OBJECTIVE: To investigate the clinicopathological features and immunohistochemical alterations of keratinocyte proliferation, melanocyte density, smooth muscle hyperplasia and nerve fiber distribution in BN. METHODS: Clinical and pathological data were collected in 60 newly-diagnosed BN cases...
December 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27894940/changes-in-the-mrna-expression-of-structural-proteins-hormone-synthesis-and-secretion-from-bovine-placentome-sections-after-ddt-and-dde-treatment
#19
A Wojciechowska, J Mlynarczuk, J Kotwica
Disorders in the barrier function and secretory activity of the placenta can be caused by xenobiotics (XB) present in the environment and their accumulation in tissues of living organisms. Thus, the aim of this study was to investigate the effect of 1,1,1-trichloro-2,2,-bis-4-chlorophenyl-ethane (DDT) and its metabolite 1,1-dichloro-2,2-bis-4-chlorophenyl-ethene (DDE) (for 24 or 48h) at doses of 1, 10 or 100ng/ml on the function of cow placentome sections in the second trimester of pregnancy. DDT and DDE affected neither (P>0...
January 15, 2017: Toxicology
https://www.readbyqxmd.com/read/27889290/randomized-split-body-single-blinded-clinical-trial-of-topical-broccoli-sprout-extract-assessing-the-feasibility-of-its-use-in-keratin-based-disorders
#20
Michelle L Kerns, Lark Guss, Jed Fahey, Bernard Cohen, Jill M C Hakim, Sarah Sung, Rosemary G Lu, Pierre A Coulombe
BACKGROUND: Epidermolysis bullosa simplex is a skin-blistering disorder caused by mutations in keratin (K)14 or K5. Treatment with nuclear factor (erythroid-derived 2)-like 2 inducer sulforaphane ameliorated skin blistering in Krt14-null mice, correlating with induction of K17. To be therapeutically useful for epidermolysis bullosa simplex, topical broccoli sprout extract (BSE), enriched for sulforaphane, would ideally induce the expression of homologous keratins (eg, K6, K17, K16) in the basal layer of human epidermis without impacting expression of defective keratins (K5/K14)...
November 23, 2016: Journal of the American Academy of Dermatology
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