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https://www.readbyqxmd.com/read/29321362/a-novel-missense-mutation-of-adar1-gene-in-a-chinese-family-leading-to-dyschromatosis-symmetrica-hereditaria-and-literature-review
#1
Shuai-Mei Liu, Meng-Xia Ni, Ming-Chao Zhang, Pei-Ran Zhu, Qiu-Yu Wu, Wei-Jun Jiang, Jing Zhang, Wei-Wei Li, Xin-Yi Xia
Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant pigmentary genodermatosis, which is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal of the hands and feet, and on the face presented like freckle. Identification of RNA-specific adenosine deaminase 1 (ADAR1) gene results in DSH. This study was mainly to explore the pathogenic mutation of ADAR1 gene and provide genetics counselling and prenatal diagnostic testing for childbearing individuals.Mutational analysis of ADAR1 gene was performed by polymerase chain reaction (PCR) and electrophoretic separation of PCR products by 1...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29320342/factors-associated-with-sunbed-use-in-women-the-e3n-sunexp-study
#2
Isabelle Savoye, Iris Cervenka, Yahya Mahamat Saleh, Marie-Christine Boutron-Ruault, Marina Kvaskoff
OBJECTIVES: In this study, we attempt to describe the profile of sunbed users among cancer-free French women. METHODS: E3N is a prospective cohort including 98,995 French women aged 40- 65 years in 1990. In 2008, a specific UV questionnaire was sent to all reported skin cancer cases and 3 controls per case, matched on age, county of birth, and education. We used logistic regression models adjusted for pigmentary traits. RESULTS: Compared with non-users, ever-users of sunbeds were younger (ptrend < ...
January 1, 2018: American Journal of Health Behavior
https://www.readbyqxmd.com/read/29315480/iris-pigmented-lesions-as-a-marker-of-cutaneous-melanoma-risk-an-australian-case-control-study
#3
A M Laino, E G Berry, K Jagirdar, K J Lee, D L Duffy, H P Soyer, R A Sturm
BACKGROUND: Iris naevi and iris freckles have a frequency of 4% and 50% in the European population. They are associated with dysplastic naevi, but few studies examine their link to cutaneous melanoma. OBJECTIVES: To assess whether iris pigmented lesions are a predictive indicator for cutaneous melanoma. METHODS: This is a melanoma case-control study of 1254 European-background Australians. Sun exposure and melanoma history, a saliva sample for DNA analysis, and eye photographs taken with a digital camera were collected from 1117 participants...
January 8, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29311485/evaluation-of-antimelanogenic-activity-and-mechanism-of-galangin-in-silico-and-in-vivo
#4
Ki Wung Chung, Hyeong Oh Jeong, Eun Kyeong Lee, Su Jeong Kim, Pusoon Chun, Hae Young Chung, Hyung Ryong Moon
Abnormal pigmentation owing to excessive melanin synthesis can result in serious problems such as freckles, age-spots, and melanoma. Tyrosinase inhibitors have been an interesting target for the treatment of hyperpigmentation because tyrosinase is the rate-limiting enzyme in melanin synthesis. The screening for strong tyrosinase inhibitors led to the finding of the flavonoid galangin, which showed notable inhibitory effects on mushroom tyrosinase. The IC50 value of galangin (3.55±0.39 µM) was lower than that of kojic acid (48...
2018: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/29279953/chemical-peeling-with-a-modified-phenol-formula-for-the-treatment-of-facial-freckles-on-asian-skin
#5
Hua-Feng Sun, Hai-Shan Lu, Le-Qi Sun, Wei-Dong Ping, Dong-Sheng Mao, Dan Li
BACKGROUND: Chemical peeling is an efficient method for the treatment of pigment disorders. For freckles, medium-depth to deep peeling using a phenol solution is one of the most effective chemical peels, and modifications of facial skin can be observed up to 20 years after peeling. However, applying phenol to the skin may cause serious side effects. Phenol peeling has been rarely used in Asia due to its tendency to cause permanent pigmentary changes and hypertrophic scars. METHODS: In total, 896 Chinese inpatients with facial freckles were enrolled in this study...
December 26, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/29210711/an-autopsy-case-of-sudden-death-in-neurofibromatosis-type-1-with-pheochromocytoma-and-myocarditis
#6
Masataka Takamiya, Hisae Niitsu, Kiyoshi Saigusa
An autopsy case of sudden death in a 33-year-old man with neurofibromatosis type 1 (von Recklinghausen disease), pheochromocytoma, and myocarditis is reported. The decedent was found in his bedroom in cardiopulmonary arrest. Polypoid, elastic dermal papules on the neck, chest, abdomen, and back, and flat dark-brown macules on the chest and abdomen were observed. Flat, ovoid, dark-brown freckles were present in both axillae. Examination of the right adrenal gland revealed a tumor measuring 5 cm × 5 cm × 3 cm...
November 28, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29190509/genetic-determinants-of-freckle-occurrence-in-the-spanish-population-towards-ephelides-prediction-from-human-dna-samples
#7
Barbara Hernando, Maria Victoria Ibañez, Julio Alberto Deserio-Cuesta, Raquel Soria-Navarro, Inca Vilar-Sastre, Conrado Martinez-Cadenas
Prediction of human pigmentation traits, one of the most differentiable externally visible characteristics among individuals, from biological samples represents a useful tool in the field of forensic DNA phenotyping. In spite of freckling being a relatively common pigmentation characteristic in Europeans, little is known about the genetic basis of this largely genetically determined phenotype in southern European populations. In this work, we explored the predictive capacity of eight freckle and sunlight sensitivity-related genes in 458 individuals (266 non-freckled controls and 192 freckled cases) from Spain...
November 23, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29091873/autophagy-participates-in-isoliquiritigenin-induced-melanin-degradation-in-human-epidermal-keratinocytes-through-pi3k-akt-mtor-signaling
#8
Zhibo Yang, Biyun Zeng, Yi Pan, Pan Huang, Chang Wang
Melanin is the pigment responsible for the color of human skin and hair. Melanin serves as a double-edge sword which can exert both protective and spot-causing effects on skin. Although melanin has an important role in protecting the skin against UV damage, an excessive or uneven melanin production can lead to the formation of freckles and age spots. Isoliquiritigenin (ISL) has been reported to inhibit melanin synthesis; however, its role in melanin degradation remains unclear. In the present study, we evaluated the detailed function of ISL in melanin degradation in human epidermal keratinocytes...
October 26, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29057502/validation-of-digital-photographic-reference-scales-for-evaluating-facial-aging-signs
#9
Randa Jdid, Julie Latreille, Frédérique Soppelsa, Erwin Tschachler, Frédérique Morizot
BACKGROUND: Validated tools are essential to evaluate facial skin aging for both dermatological and cosmetic investigations. While many visual aging scales have been developed, few have been validated and none in terms of degree of distinguishability (DD). We developed and validated a series of visual scales using a novel digital interface for scoring facial skin aging in Caucasian women. MATERIALS AND METHODS: Three dermatologists independently established scales for 12 distinct aging signs from high-definition facial photographs of 400 adult women (Fitzpatrick phototypes I-IV) taken under standardized conditions...
October 22, 2017: Skin Research and Technology
https://www.readbyqxmd.com/read/28979660/treatment-of-freckles-using-a-fractional-nonablative-2940nm-erb-yag-laser-in-a-series-of-asian-patients
#10
Brian Tian
OBJECTIVE: The purpose of this study was to demonstrate a novel, effective, and safe way to utilize the Erb:YAG laser to clear freckles in Type III/IV Asian skin. DESIGN: This was a prospective study. SETTING: The setting was a Singapore-based clinic. PARTICIPANTS: Participants included five women, aged 25 to 38 years, three with Skin Type III and two with Skin Type IV. All of them had freckles. MEASUREMENTS: Photographs were taken pretreatment and one month after laser treatment. Three independent physicians evaluated the photographs using a grading system...
August 2017: Journal of Clinical and Aesthetic Dermatology
https://www.readbyqxmd.com/read/28979012/focal-dermal-hypoplasia-goltz-syndrome-a-cross-sectional-study-from-eastern-india
#11
Sudip Kumar Ghosh, Abhijit Dutta, Sharmila Sarkar, Shanka Subhra Nag, Surajit Kumar Biswas, Prabhakar Mandal
INTRODUCTION: Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome. METHOLOGY: This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India...
September 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28954101/molecular-basis-of-basal-cell-carcinoma
#12
REVIEW
Erik Montagna, Otávio Sérgio Lopes
Basal cell carcinoma is the most common cancer, presenting low mortality but high morbidity, and it has as risk factor exposure to sunlight, especially UVB spectrum. The most important constitutional risk factors for basal cell carcinoma development are clear phototypes (I and II, Fitzpatrick classification), family history of basal cell carcinoma (30-60%), freckles in childhood, eyes and light hair. The environmental risk factor better established is exposure to ultraviolet radiation. However, different solar exposure scenarios probably are independent risk factors for certain clinical and histological types, topographies and prognosis of this tumor, and focus of controversy among researchers...
July 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28950052/melanocortin-1-receptor-mc1r-polymorphisms-influence-on-size-and-dermoscopic-features-of-nevi
#13
María Gabriela Vallone, Gemma Tell-Marti, Miriam Potrony, Aida Rebollo-Morell, Celia Badenas, Joan Anton Puig-Butille, Pol Gimenez-Xavier, Cristina Carrera, Josep Malvehy, Susana Puig
The melanocortin 1 receptor (MC1R) is a highly polymorphic gene. The loss-of-function MC1R variants ("R") have been strongly associated with red hair color phenotype and an increased melanoma risk. We sequenced the MC1R gene in 175 healthy individuals to assess the influence of MC1R on nevus phenotype. We identified that MC1R variant carriers had larger nevi both on the back [p-value = .016, adjusted for multiple parameters (adj. p-value)] and on the upper limbs (adj. p-value = .007). Specifically, we identified a positive association between the "R" MC1R variants and visible vessels in nevi [p-value = ...
September 26, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28915292/news-views-and-reviews-a-tool-for-my-laser-practice-i-simply-can-t-do-without-shining-a-light-on-my-favorite-light-source
#14
Eric F Bernstein
With laser surgery, what you see is what you get. Visualizing the target for treatment, be it a port-wine stain, a cluster of spider veins, a tattoo or freckles, or simply photodamaged skin requires seeing through surface reflections, dry skin, and often quite dark laser goggles. The tool that has been indispensable to me in my practice is the Syris v900L polarizing and magnifying headlamp. This indispensable tool makes laser treatment more precise, effective, and easier by truly shining a light on the subject of a laser treatment...
September 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28911859/recent-development-of-signaling-pathways-inhibitors-of-melanogenesis
#15
REVIEW
Thanigaimalai Pillaiyar, Manoj Manickam, Sang-Hun Jung
Human skin, eye and hair color rely on the production of melanin, depending on its quantity, quality, and distribution, Melanin plays a monumental role in protecting the skin against the harmful effect of ultraviolet radiation and oxidative stress from various environmental pollutants. However, an excessive production of melanin causes serious dermatological problems such as freckles, solar lentigo (age spots), melasma, as well as cancer. Hence, the regulation of melanin production is important for controlling the hyper-pigmentation...
December 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28880216/inhibition-of-nat10-suppresses-melanogenesis-and-melanoma-growth-by-attenuating-microphthalmia-associated-transcription-factor-mitf-expression
#16
Taek-In Oh, Yoon-Mi Lee, Beong-Ou Lim, Ji-Hong Lim
N-acetyltransferase 10 (NAT10) has been considered a target for the treatment of human diseases such as cancer and laminopathies; however, its functional role in the biology of melanocytes is questionable. Using a small molecule or small interfering RNA targeting NAT10, we examined the effect of NAT10 inhibition on melanogenesis and melanoma growth in human and mouse melanoma cells. Genetic silencing or chemical inhibition of NAT10 resulted in diminished melanin synthesis through the suppression of melanogenesis-stimulating genes such as those encoding dopachrome tautomerase (DCT) and tyrosinase in B16F10 melanoma cells...
September 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28872626/anti-melanogenic-effects-of-flavonoid-glycosides-from-limonium-tetragonum-thunb-bullock-via-inhibition-of-tyrosinase-and-tyrosinase-related-proteins
#17
Seul-Gi Lee, Fatih Karadeniz, Youngwan Seo, Chang-Suk Kong
Overproduction and stimulation of tyrosinase result in increased melanogenesis of which several skin disorders such as freckles, spots, and hyperpigmentation appear as complications. Limonium tetragonum is a halophyte well-known for its antioxidative properties. This study investigated the anti-melanogenic effects of solvent-partitioned L. tetragonum extracts (LTEs) and its bioactive constituents, two isolated flavonoid glycosides. Current study followed a set of experiments on B16-F10 mouse melanoma cell model with a focus on tyrosinase activity and production...
September 5, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28842324/associations-of-mc1r-genotype-and-patient-phenotypes-with-braf-and-nras-mutations-in-melanoma
#18
Nancy E Thomas, Sharon N Edmiston, Peter A Kanetsky, Klaus J Busam, Anne Kricker, Bruce K Armstrong, Anne E Cust, Hoda Anton-Culver, Stephen B Gruber, Li Luo, Irene Orlow, Anne S Reiner, Richard P Gallagher, Roberto Zanetti, Stefano Rosso, Lidia Sacchetto, Terence Dwyer, Eloise A Parrish, Honglin Hao, David C Gibbs, Jill S Frank, David W Ollila, Colin B Begg, Marianne Berwick, Kathleen Conway
Associations of MC1R with BRAF mutations in melanoma have been inconsistent between studies. We sought to determine for 1,227 participants in the international population-based Genes, Environment, and Melanoma (GEM) study whether MC1R and phenotypes were associated with melanoma BRAF/NRAS subtypes. We used logistic regression adjusted by age, sex, and study design features and examined effect modifications. BRAF(+) were associated with younger age, blond/light brown hair, increased nevi, and less freckling, and NRAS(+) with older age relative to the wild type (BRAF(-)/NRAS(-)) melanomas (all P < 0...
August 24, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28833649/adar1-splicing-mutation-leading-to-dyschromatosis-hereditaria-in-a-caucasian-patient
#19
J Petre, E Lasseaux, C Ged, B Arveiler, A Taïeb, F Morice-Picard
Dyschromatosis symmetrica hereditaria (DSH, OMIM 127400) is a rare autosomal dominant disorder characterized by hypo-and hyperpigmented macules on the dorsal aspects of hands and feet and freckle-like macules on the face(1). Histologically, there is an increase in epidermal melanin pigment in the hyperpigmented area and with normally structured melanosomes, together with an absence of melanin pigment in hypopigmented macules. The disease is known to be caused by mutations in the adenosine deaminase, RNA-specific (ADAR) gene (Miyamura et al...
August 21, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28776093/identification-of-an-atypical-microdeletion-generating-the-rnf135-suz12-chimeric-gene-and-causing-a-position-effect-in-an-nf1-patient-with-overgrowth
#20
Luca Ferrari, Giulietta Scuvera, Arianna Tucci, Donatella Bianchessi, Francesco Rusconi, Francesca Menni, Elena Battaglioli, Donatella Milani, Paola Riva
Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4-11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. The variable expressivity of the disease makes it challenging to establish genotype-phenotype correlations, which also affects prognosis and counselling. We here describe a 3-year-old NF1 patient with an atypical deletion and a complex phenotype. The patient showed overgrowth, café au lait spots, inguinal freckling, and neurological abnormalities...
October 2017: Human Genetics
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