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disorder of keratinization

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https://www.readbyqxmd.com/read/27920816/concomitant-extraspinal-hyperostosis-and-osteoporosis-in-a-patient-with-congenital-ichthyosis
#1
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
#2
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
#3
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...
November 25, 2016: 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
#4
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
https://www.readbyqxmd.com/read/27889062/monoallelic-mutations-in-the-translation-initiation-codon-of-klhl24-cause-skin-fragility
#5
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/27867741/pityriasis-rubra-pilaris-like-eruption-following-insulin-therapy-initiation
#6
Talel Badri, Anissa Zaouak, Ghozlane Lakhoua, Wafaa Koubaa, Sami Fennich, Ahmed Zaiem
Pityriasis rubra pilaris (PRP) is a chronic disorder of keratinization of unclear pathogenesis. PRP-like eruptions induced by drugs have rarely been described. A previously healthy 29-year-old man presented with a generalized, rapidly spreading, erythematosquamous dermatosis, that started three days after initiation of subcutaneous insulin therapy for diabetes mellitus type 1. Clinical and histopathological features were consistent with a PRP-like eruption, possibly due to insulin therapy. The patient was switched to insulin analogue therapy and a complete healing of all lesions was achieved after two months...
October 2016: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/27862685/topical-application-of-probiotics-in-skin-adhesion-antimicrobial-and-antibiofilm-in-vitro-assays
#7
Elísia G Lopes, Diana A Moreira, Patricia Gullón, Beatriz Gullón, Alejandra Cardelle-Cobas, Freni K Tavaria
AIMS: When skin dysbiosis occurs as a result of skin disorders, probiotics can act as modulators, restoring microbial balance. Several properties of selected probiotics were evaluated so that their topical application could be considered. METHODS AND RESULTS: Adhesion, antimicrobial, quorum sensing and antibiofilm assays were carried out with several probiotic strains and tested against selected skin pathogens. All tested strains displayed significant adhesion to keratin...
November 12, 2016: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/27798626/stabilizing-mutations-of-klhl24-ubiquitin-ligase-cause-loss-of-keratin-14-and-human-skin-fragility
#8
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/27789971/morgellons-disease-a-filamentous-borrelial-dermatitis
#9
REVIEW
Marianne J Middelveen, Raphael B Stricker
Morgellons disease (MD) is a dermopathy characterized by multicolored filaments that lie under, are embedded in, or project from skin. Although MD was initially considered to be a delusional disorder, recent studies have demonstrated that the dermopathy is associated with tickborne infection, that the filaments are composed of keratin and collagen, and that they result from proliferation of keratinocytes and fibroblasts in epithelial tissue. Culture, histopathological and molecular evidence of spirochetal infection associated with MD has been presented in several published studies using a variety of techniques...
2016: International Journal of General Medicine
https://www.readbyqxmd.com/read/27783455/mutations-in-plc%C3%AE-1-associated-with-hereditary-leukonychia-display-divergent-pip2-hydrolytic-function
#10
Michail Nomikos, Angelos Thanassoulas, Konrad Beck, Maria Theodoridou, Jasmine Kew, Junaid Kashir, Brian L Calver, Emily Matthews, Pierre Rizkallah, Zili Sideratou, George Nounesis, F Anthony Lai
Hereditary leukonychia is a rare genetic nail disorder characterized by distinctive whitening of the nail plate of all 20 nails. Hereditary leukonychia may exist as an isolated feature, or in simultaneous occurrence with other cutaneous or systemic pathologies. Associations between hereditary leukonychia and mutations in the gene encoding phospholipase C delta-1 (PLCδ1) have previously been identified. However, the molecular mechanisms underlying PLCδ1 mutations and hereditary leukonychia remain uncharacterized...
October 26, 2016: FEBS Journal
https://www.readbyqxmd.com/read/27699474/atlas-of-human-diseases-influenced-by-genetic-variants-with-extreme-allele-frequency-differences
#11
Arvis Sulovari, Yolanda H Chen, James J Hudziak, Dawei Li
Genetic variants with extreme allele frequency differences (EAFD) may underlie some human health disparities across populations. To identify EAFD loci, we systematically analyzed and characterized 81 million genomic variants from 2504 unrelated individuals of 26 world populations (phase III of the 1000 Genomes Project). Our analyses revealed a total of 434 genes, 15 pathways, and 18 diseases and traits influenced by EAFD variants from five continental populations. They included known EAFD genes, such as LCT (lactose tolerance), SLC24A5 (skin pigmentation), and EDAR (hair morphology)...
October 3, 2016: Human Genetics
https://www.readbyqxmd.com/read/27694187/basal-cell-carcinoma-in-two-hermann-s-tortoises-testudo-hermanni
#12
Tom Hellebuyck, Richard Ducatelle, Leslie Bosseler, Annemie Van Caelenberg, Han Versnaeyen, Koen Chiers, An Martel
Neoplastic disorders are frequently encountered in the practice of reptile medicine. Herein we report the clinical behavior, antemortem diagnosis, and histopathologic characteristics of a recurrent intraoral keratinizing basal cell carcinoma (BCC) and a metastatic BCC of the carapace in 2 Hermann's tortoises (Testudo hermanni). Although squamous cell carcinomas (SCCs) in tortoises show similar predilection sites and gross pathologic features, the BCCs described in our report were characterized by a remarkably fast and highly infiltrative growth in comparison to SCCs...
November 2016: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/27664712/expanding-the-mutation-spectrum%C3%A2-of%C3%A2-ichthyosis-with-confetti
#13
Young H Lim, Keith A Choate
Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white, genetically revertant macules in red, diseased skin. All cases result from mutations affecting the tail domains of keratin-10 or keratin-1, and Suzuki et al. expand the mutation spectrum for ichthyosis with confetti caused by mutations in KRT1, showing that a polyarginine frameshift in the keratin-1 tail can also cause this disorder.
October 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27617940/nilontinib-induced-keratosis-pilaris-atrophicans
#14
Shilpi Khetarpal, Apra Sood, Steven D Billings
Keratosis pilaris (KP) is a disorder of follicular keratinization that is characterized by keratin plugs in the hair follicles with surrounding erythema. A 46-year-old man with chronic myelogenous leukemia (CML) was started on nilotinib, a second generation tyrosine kinase inhibitor (TKI). Two months later the patient noticed red bumps on the skin and patchy hair loss on the arms, chest, shoulders, back, and legs. Cutaneous reactions to nilotinib are the most frequent non-hematologic adverse effects reported...
August 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27617465/infantile-epidermolytic-ichthyosis-with-prominent-maternal-palmoplantar-keratoderma
#15
Wallace Austin Smith, Austin Cope, Martin Fernandez, Palak Parekh
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.  Other manifestations include palmoplantar keratoderma (PPK).  EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation.  We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age...
2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27613389/genetics-of-syndromic-and-non-syndromic-hereditary-nail-disorders
#16
Christina Bergqvist, Paul Ramia, Ossama Abbas, Mazen Kurban
The nail is a unique epithelial skin appendage made up of a fully keratinized nail plate. The nail can be affected in several systemic illnesses, dermatological diseases, and inherited nail disorders. Nail dystrophies can present as isolated disorders or as a part of syndromes. Substantial progress has been achieved in the management and diagnosis of nail diseases; however, not much is known about the underlying molecular controls of nail growth. The homeostasis and development of the nail appendage depends on the intricate interactions between the epidermis and underlying mesenchyme, and comprises different signaling pathways such as the WNT signaling pathway...
September 10, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27601192/superficial-epidermolytic-ichthyosis-hypertrichosis-as-a-clue-to-diagnosis
#17
Ana Gameiro, Rita Cabral, Ana Moreno, Oscar Tellechea
Superficial epidermolytic ichthyosis (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild hyperkeratosis, superficial blisters and shedding, referred to as the moulting phenomenon. We report a case of SEI in an 18-month-old girl presenting with marked hypertrichosis. Although not invariably present, we believe that hypertrichosis can be an important clue for diagnosis.
September 7, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27579746/porokeratosis-ptychotropica-a-rare-manifestation-with-typical-histological-exam
#18
John Verrinder Veasey, Monique Coelho Dalapicola, Rute Facchini Lellis, Adriana Bittencourt Campaner, Thiago da Silveira Manzione, Maria Clarissa de Faria Soares Rodrigues
Porokeratosis is a disorder of epidermal keratinization characterized clinically by a distinctive ridge-like border, and histologically by cornoid lamellae. The known clinical variants of porokeratosis are: classic porokeratosis of Mibelli, disseminated superficial (actinic) porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata, linear porokeratosis and punctate porokeratosis. In 1995, a seventh form was described as porokeratosis ptychotropica: a verrucous form resembling psoriasis involving the gluteal cleft presenting on the histological exam multiple cornoid lamellae...
July 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27559506/clinical-and-dermatoscopic-features-of-porokeratosis-palmaris-et-plantaris
#19
Satish Udare, Karishma Hemmady
A dermatoscope is an important tool in a dermatologist's armamentarium as it can eliminate the need for a biopsy in a wide array of conditions. Porokeratosis was described by Mibelli and Respighi in 1893, as a disorder of keratinization which on the basis of distribution patterns was described as five clinical variants that portrayed a coronoid lamella on histopathology. We describe a case of asymptomatic, long-standing palmar and plantar pits, which on dermatoscopy showed features suggestive of porokeratosis, which was later reconfirmed by histopathologic sections...
July 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27498660/treatment-of-ichthyosis-lamellaris-using-a-series-of-herbal-skin-care-products-family
#20
M Tirant, P Bayer, J Hercogovấ, M Fioranelli, S Gianfaldoni, A A Chokoeva, G Tchernev, U Wollina, F Novotny, M G Roccia, G K Maximov, K França, T Lotti
Lamellar ichthyosis (LI) is a genetically heterogeneous group of disorders of keratinization that are inherited in an autosomal recessive fashion, occurring in approximately 1 in 300,000 live births. The treatment of the large, dark, plate-like scales that characterize the classic manifestation of the disease are still a challenge. The aim of this study was to evaluate the efficacy and tolerability of Dr. Michaels® skin-care products for the management of LI. A multi-centre European prospective study was conducted, including 10 patients (3 female/7 male) with lamellar ichthyosis, aged 38-54 years old (mean age: 46)...
April 2016: Journal of Biological Regulators and Homeostatic Agents
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