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https://www.readbyqxmd.com/read/29440855/circle-hairs-involving-the-extremities-in-a-young-girl
#1
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
#2
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
#3
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
#4
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
#5
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 22, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29277919/recessive-epidermolytic-ichthyosis-results-from-loss-of-keratin-10-expression-regardless-of-the-mutation-location
#6
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...
December 26, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29277538/sexual-dimorphism-in-response-to-a-nrf2-inducer-in-a-model-for-pachyonychia-congenita
#7
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 (PC) 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 impair mobility in PC. Mice genetically null for keratin 16 (Krt16), one of the genes mutated in PC, develop PC-like PPK. In male Krt16-/- mice, oxidative stress associated with impaired glutathione synthesis and NRF2-dependent gene expression precedes PPK onset, which can be prevented by topical sulforaphane (SF)-mediated activation of NRF2 (Kerns et al...
December 22, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29259625/prevalence-and-factors-associated-with-self-medication-in-dermatology-in-togo
#8
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
#9
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 H2O. 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 H2O). Here, we sought to determine how a continuous pressure load of ~30 cm H2O 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
https://www.readbyqxmd.com/read/29229247/analysis-of-lecithin-treatment-effects-on-the-structural-transformation-of-wool-fiber-using-vibrational-spectroscopy
#10
Hossein Barani, Aminoddin Haji, Homa Maleki
The keratin macromolecule in wool fiber may be found in α-helix or β-sheet conformations besides a disordered portion. The physical and chemical treatments may cause transformations between α-helix and β-sheet conformations. The aim of this study was to investigate the influence of lecithin treatment on the wool fiber using the micro-Raman spectroscopy and Fourier transform infrared spectroscopy. Characteristic bands found in the FTIR spectra of wool fibers including the amide A, amide B and amide I-III, which are assigned to the peptide bonds of wool keratin and arise from the amide bonds that link the amino acids...
December 8, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29215326/the-role-of-fabp5-in-radiation-induced-human-skin-fibrosis
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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