keyword
MENU ▼
Read by QxMD icon Read
search

freckle

keyword
https://www.readbyqxmd.com/read/28528167/cxcl1-inhibition-regulates-uvb-induced-skin-inflammation-and-tumorigenesis-in-xpa-deficient-mice
#1
Makoto Kunisada, Chieko Hosaka, Chihiro Takemori, Eiji Nakano, Chikako Nishigori
Xeroderma pigmentosum complementation group A (XP-A) is a hereditary disease characterized by early onset of skin cancers and freckles-like pigmented maculae in the sun-exposed sites. Although etiology of predisposition to UV-induced skin tumors in XP-A is well investigated as a repair deficiency in UV-induced DNA damage, the mechanism of exaggerated sunburn in patients with XP-A and whether UV-induced inflammation relates to skin tumor-prone phenotype remains to be elucidated. Using gene profiling of XP-A model mice, Xpa-deficient mice, we found that expression of CXCL1 in the skin and blood levels of in Xpa-deficient mice increased significantly after UVB exposure at an even a limited area in comparison to those of wild-type mice...
May 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28503822/constitutional-mismatch-repair-deficiency-in-a-healthy-child-on-the-spot-diagnosis
#2
M Suerink, T P Potjer, A B Versluijs, S W Ten Broeke, C M Tops, K Wimmer, M Nielsen
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by bi-allelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a healthy six-year-old girl who fulfilled the diagnostic criteria of NF1 with >6 CALM and freckling...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28502110/a-novel-frameshift-mutation-of-the-adar1-gene-in-a-chinese-patient-with-dyschromatosis-symmetrica-hereditaria-and-the-dermoscopic-features
#3
LETTER
C Chi, Y Luo, J Liu
No abstract text is available yet for this article.
May 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28502085/pathogenicity-of-adar1-mutation-in-a-chinese-family-with-dyschromatosis-symmetrica-hereditaria
#4
S-D Zhang, S-J Feng, K Nh-Tseung, J-J Zhao
Dyschromatosis symmetrica hereditaria (DSH, OMIM 127400) is a rare pigmentary genodermatosis with an autosomal dominant mode of inheritance that is characterized by a mixture of hyperpigmented and hypopigmented macules on the dorsal regions of the extremities and freckle-like macules on the face. ADAR1 is the corresponding causal gene of DSH.(1) Here, we report a novel heterozygous mutation in the ADAR1 gene in a Chinese family with DSH that may potentially be responsible for the observed clinical presentations, which differ from those previously described...
May 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28494168/uveal-melanoma-risk-factors-a-systematic-review-of-meta-analyses
#5
Taylor Nayman, Cristina Bostan, Patrick Logan, Miguel N Burnier
PURPOSE: There is currently no clinical risk-assessment tool allowing identification of patients at risk for developing uveal melanoma (UM) who might benefit from regular screening. As a first step toward the elaboration of such a tool, we systematically reviewed UM risk factors already established by meta-analysis. METHODS: Two reviewers independently screened Pubmed, Medline, Embase, and Web of Science from their respective inception dates until July 2016 using a combination of keywords and MeSH terms...
May 11, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28457509/haplotypes-from-the-slc45a2-gene-are-associated-with-the-presence-of-freckles-and-eye-hair-and-skin-pigmentation-in-brazil
#6
Nádia Carolina de Aguiar Fracasso, Edilene Santos de Andrade, Cláudia Emília Vieira Wiezel, Claudia Caixeta Franco Andrade, Lídia Renata Zanão, Mateus Spinelli da Silva, Leonardo Arduino Marano, Eduardo Antônio Donadi, Erick C Castelli, Aguinaldo Luiz Simões, Celso Teixeira Mendes-Junior
The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project...
March 2017: Legal Medicine
https://www.readbyqxmd.com/read/28453913/bioprinting-of-biomimetic-skin-containing-melanocytes
#7
Daejin Min, Wonhye Lee, Il-Hong Bae, Tae Ryong Lee, Phillip Croce, Seung-Schik Yoo
This study reports a three-dimensional (3D) bioprinting technique that is capable of producing a full-thickness skin model containing pigmentation. Multiple layers of fibroblasts (FB)-containing collagen hydrogel precursor were printed and crosslinked through neutralization using sodium bicarbonate, constituting the dermal layer. Melanocytes (MC) and keratinocytes (KC) were sequentially printed on top of the dermal layer to induce skin pigmentation upon subsequent air-liquid interface culture. Histological analysis was performed not only to confirm the formation of distinct skin layers, but also to identify the presence of pigmentation...
April 28, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28446546/conjunctival-ultraviolet-autofluorescence-as-a-measure-of-past-sun-exposure-in-children
#8
Cong Sun, Angela Pezic, David A Mackey, John B Carlin, Andrew Kemp, Justine A Ellis, Fergus J Cameron, Christine P Rodda, Terence Dwyer, Minas T Coroneo, Anne-Louise Ponsonby
BACKGROUND: Conjunctival ultraviolet autofluorescence (CUVAF) area detected from UVAF photographs is a recently developed potential marker for past sun exposure but its relationship with sun-related factors have not been fully investigated. METHODS: The study included 339 ethnically diverse and healthy children aged 5-15 years in Melbourne, Australia. Data were collected by questionnaire and examination at school. CUVAF area was measured using a computer programme and analysed as a continuous and dichotomous outcome (any/none)...
April 26, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28413392/t-cell-lymphoma-in-a-patient-with-neurofibromatosis-type-1-and-aids
#9
Izana Junqueira de Castro, Esther Botelho Soares da Silva, Talita Rezende Dos Santos, Amanda Barroso de Freitas, Inara Junqueira de Castro, Alessandra Santos Portela, Marilza Campos de Magalhães, Karina Lebeis Pires, Guilherme Almeida Rosa da Silva, Marcelo Costa Velho Mendes de Azevedo
Neurofibromatosis type 1 (NF1) and AIDS are risk factors for the development of malignant neoplasms, including hematological malignancies, such as non-Hodgkin lymphoma. NF1 is an autosomal dominant disease that primarily manifests as café-au-lait spots, dermal neurofibromas, axillary and/or inguinal ephelides or freckles, plexiform neurofibromas, Lisch nodules, and bone deformities. In this report, we present a 38-year-old female patient with NF1 from childhood and AIDS who developed peripheral T-cell lymphoma with good response to chemotherapeutic treatment...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28384950/familial-schwannomatosis-a-diagnostic-challenge
#10
Sameer Ajit Mansukhani, Rajendra Prasad R Butala, Sunil H Shetty, Ravindra G Khedekar
Schwannomatosis is a disease characterized by the development of multiple benign tumours originating from Schwann cells. Schwannomatosis is a member of the family of diseases known as Neurofibromatosis (NF). Patients with Schwannomatosis develop multiple Schwannomas on cranial, spinal and peripheral nerves. We report a rare case of a 60-year-old female who presented with a painful swelling on the ulnar aspect of her distal forearm. She underwent an excisional biopsy for it; which was suggestive of a Schwannoma...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28381809/coumestrol-down-regulates-melanin-production-in-melan-a-murine-melanocytes-through-degradation-of-tyrosinase
#11
Jeong Ah Hwang, Nok Hyun Park, Yong Joo Na, Hae Kwang Lee, John Hwan Lee, Yong Jin Kim, Chang Seok Lee
Pigmentation reflects skin darkening caused by melanin production, but excessive melanin synthesis may cause problems, such as melasma, solar lentigo, dark spots, and freckles. Considerable effort has been devoted to alleviating these undesired symptoms through the development of safe and effective depigmenting agents. Coumestrol, a plant-derived natural isoflavone with an estrogen-like structure and actions, is known to have anti-aging ability, but its potential depigmenting efficacy has not been evaluated...
2017: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/28378438/legius-syndrome-a-case-report
#12
Ryoko Kimura, Yuichi Yoshida, Ryo Maruoka, Kenjiro Kosaki, Osamu Yamamoto
Legius syndrome is a rare genetic disorder caused by heterozygous germ line loss-of-function SPRED1 mutation. In Japan, a family with Legius syndrome was first described in 2015 by Sakai et al. We described a first solitary case of Legius syndrome identified by next-generation sequencing in Japan. A 37-year-old woman presented with multiple café-au-lait macules and freckles but has no other features of neurofibromatosis type 1 (NF-1). Sequencing results showed the presence of a mutation in exon 2 of SPRED1 c...
April 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28318056/cutaneous-and-systemic-findings-in-mosaic-neurofibromatosis-type-1
#13
Igor Vázquez-Osorio, Anna Duat-Rodríguez, Francisco Javier García-Martínez, Antonio Torrelo, Lucero Noguera-Morel, Angela Hernández-Martín
BACKGROUND/OBJECTIVES: Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1. METHODS: We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015...
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28317292/pigmentation-phenotype-photosensitivity-and-skin-neoplasms-in-patients-with-myotonic-dystrophy
#14
S M Gadalla, J E Hilbert, W B Martens, S Givens, R T Moxley, M H Greene
BACKGROUND AND PURPOSE: Recent studies have suggested a possible excess risk of skin neoplasms in patients with myotonic dystrophy (DM). Risk factors related to this observation have not been defined. METHOD: Information regarding personal history of skin tumors, pigmentation phenotype, and skin reaction to sun exposure were collected from 266 DM patients who were enrolled in the US National Institutes of Health National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members...
May 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28293528/intermediate-phenotype-between-adult-syndrome-and-eec-syndrome-caused-by-r243q-mutation-in-tp63
#15
Yuki Otsuki, Koichi Ueda, Chisei Satoh, Ryuta Maekawa, Koh-Ichiro Yoshiura, Sachiko Iseki
A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional factor gene p63. Mutation analysis of p63 gene showed a heterozygous mutation c.728G>A, p.Arg243Gln (previously referred to as R204Q) in the patient, but not in his parents...
December 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28265213/revascularization-in-a-17-year-old-girl-with-neurofibromatosis-and-severe-hypertension-caused-by-renal-artery-stenosis
#16
Carmen C Beladan, Oliviana D Geavlete, Simona Botezatu, Marin Postu, Bogdan A Popescu, Carmen Ginghina, Ioan M Coman
Renal artery stenosis caused by neurofibromatosis is a rare cause of renovascular hypertension. This hypertension can develop during childhood and is one of the leading causes of poor outcome. We report the case of a 17-year-old girl who was incidentally diagnosed with severe hypertension. During her examination for secondary hypertension, we reached a diagnosis of neurofibromatosis type 1 on the basis of a cluster of typical findings: optic nerve glioma, café au lait spots, nodular neurofibromas, and axillary freckling...
February 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28230061/neurofibromatosis-type-1
#17
REVIEW
David H Gutmann, Rosalie E Ferner, Robert H Listernick, Bruce R Korf, Pamela L Wolters, Kimberly J Johnson
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life...
February 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28150585/the-first-slovak-legius-syndrome-patient-carrying-the-spred1-gene-mutation
#18
Martina Sekelska, Lenka Briatkova, Tomas Olcak, Anna Bolcekova, Denisa Ilencikova, Ludevit Kadasi, Andrea Zatkova
Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. Mutation analysis provides an important tool in order to distinguish two entities that have different clinical implications. We analyzed SPRED1 gene by cDNA and/or gDNA sequencing in a cohort of 46 Slovak patients in whom previously NF1 mutation was excluded. In one case we identified a nonsense mutation c...
April 2017: General Physiology and Biophysics
https://www.readbyqxmd.com/read/28024137/-secrets-of-the-red-headed
#19
REVIEW
Zygmunt Zdrojewicz, Małgorzata Kowalik, Adam Jagodziński
Only 1-2% of people is red-headed but in the Russian Udmurt Republic or United Kingdom they can be met more often. A specific variant of MC1R gene (R allele) is responsible for the red hair. The gene encodes a receptor for melanocortins. These substances stimulate melanocytes to product melanin- a dye of the skin which is transported to keratinocytes. It protects a cellular nucleus from ultraviolet radiation. Melanin has two types: eumelanin which is dark brown or even black and red/orange pheomelanin. The second one is mostly observed in red-headed which is caused by R allele...
December 22, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28009060/identifying-people-at-higher-risk-of-melanoma-across-the-u-k-a-primary-care-based-electronic-survey
#20
J A Usher-Smith, A P Kassianos, J D Emery, G A Abel, Z Teoh, S Hall, R D Neal, P Murchie, F M Walter
BACKGROUND: Melanoma incidence is rising rapidly worldwide among white populations. Defining higher-risk populations using risk prediction models may help targeted screening and early detection approaches. OBJECTIVES: To assess the feasibility of identifying people at higher risk of melanoma using the Williams self-assessed clinical risk estimation model in U.K. primary care. METHODS: We recruited participants from the waiting rooms of 22 general practices covering a total population of > 240 000 in three U...
December 23, 2016: British Journal of Dermatology
keyword
keyword
89754
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"