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Genodermatoses

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https://www.readbyqxmd.com/read/28168442/revertant-mosaicism-in-genodermatoses
#1
REVIEW
Young H Lim, Jonathan M Fisher, Keith A Choate
Inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. In most cases, the skin is broadly involved throughout the affected individual's lifetime, but rarely, appearance of normal skin clones has been described. In these cases of revertant mosaicism, cells undergo spontaneous correction to ameliorate the effects of genetic mutation. While targeted reversion of genetic mutation would have tremendous therapeutic value, the mechanisms of reversion in the skin are poorly understood...
February 6, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28147884/atlas-of-genodermatoses-second-edition-a-colorful-review-of-genodermatoses
#2
Erin T Landis
No abstract text is available yet for this article.
February 2, 2017: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/28087116/application-of-whole-exome-sequencing-in-elucidating-the-phenotype-and-genotype-spectrum-of-junctional-epidermolysis-bullosa-a-preliminary-experience-of-a-tertiary-care-centre-in-india
#3
Vamsi K Yenamandra, Shamsudheen K Vellarikkal, Manoj Kumar, Madhumita R Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata B Ray, Amit K Dinda, Madhulika Kabra, Punit Kaur, Vinod K Sharma, Gomathy Sethuraman
BACKGROUND: Junctional epidermolysis bullosa (JEB) is a diverse group of genodermatoses associated with extreme skin fragility. Despite several well-characterized genetic studies, molecular diagnosis of this heterogeneous group is still challenging. Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing (WES) as a fast and efficient diagnostic strategy in several genodermatoses. OBJECTIVE: In view of the scarcity and need of molecular studies for JEB in India, we sought to explore the potential of WES in understanding the mutational spectrum of this rare, in certain subtypes lethal, sub-group of EB...
December 29, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27982466/expansion-of-the-genotypic-and-phenotypic-spectrum-of-xeroderma-pigmentosum-in-chinese-population
#4
Jia Zhang, Ruhong Cheng, Xia Yu, Zhonghui Sun, Ming Li, Zhirong Yao
BACKGROUND: Xeroderma pigmentosum (XP) is a rare genodermatoses characterized by exaggerated sunburn reactions, freckle-like pigmentation and a high possibility of developing cutaneous tumors. XP comprised seven complementation groups (from XP-A to XP-G) and a variant form XP-V. METHODS: This study was based on five unrelated Chinese families with six patients clinically suspected to be XP. Mutation screening was performed by direct sequencing of the entire coding region of eight XP genes...
December 16, 2016: Photodermatology, Photoimmunology & Photomedicine
https://www.readbyqxmd.com/read/27981618/access-to-genetic-diagnostics-for-genodermatoses-who-should-get-tested-why-who-pays
#5
EDITORIAL
Eoin R Storan, Alan D Irvine
No abstract text is available yet for this article.
December 16, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27874213/questioning-the-clinical-utility-of-exome-sequencing-in-developing-countries
#6
Kenneth Fong, Celeste V Bailey, Peggy Tuttle, Bari Cunningham, John A McGrath, Raymond J Cho
The availability of whole-exome sequencing has revolutionized the study of genetic disease in recent years, particularly in dermatology, where clinical phenotypes are readily recognized. As this technology becomes increasingly affordable and accessible, questions are emerging regarding the clinical and ethical responsibilities of physicians who determine variants underlying disease, especially with regard to children, for whom treatment may be warranted and clinical course improved based on a known genotype...
November 22, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27822733/-cutaneous-manifestations-in-renal-diseases
#7
M Schmid-Simbeck, A Udvardi, B Volc-Platzer
In addition to general skin changes like pallor or dryness and the frequent, often excruciating nephrogenic pruritus, specific diseases in patients with renal failure may occur. Acquired perforating dermatoses are usually also highly pruritic. Calciphylaxis is a severe disease with poor prognosis. Nonhealing wounds with superinfection and progression to sepsis are characteristic. Bullous lesions can be caused by disturbances in porphyrin metabolism. Nephrogenic systemic fibrosis is a disease which was first described in 2000...
December 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27767270/a-multistep-approach-to-the-diagnosis-of-rare-genodermatoses
#8
Iliana Tantcheva-Poór, Vinzenz Oji, Cristina Has
Recent advances in genetic technology have found their way into clinical dermatology. Approximately one third of all hereditary disorders show characteristic cutaneous findings. Moreover, human skin easily provides samples for studying the mechanisms of genetic mosaicism, as well as the underlying functional defects due to mutated proteins. Diagnosing hereditary skin disorders remains, however, a challenging task due to the rarity of genodermatoses and their diversity, overlapping or heterogeneous phenotypes, huge amount of new information, and complicated nomenclature and classifications...
October 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/27766546/management-of-skin-cancer-in-the-high-risk-patient
#9
REVIEW
James W Behan, Adam Sutton, Ashley Wysong
Skin cancer is the most common of human cancers and outnumbers all other types of cancer combined in the USA by over threefold. The majority of non-melanoma skin cancers are easily treated with surgery or locally destructive techniques performed under local anesthesia in the cost-effective outpatient setting. However, there is a subset of "high-risk" cases that prove challenging in terms of morbidity, mortality, adjuvant treatment required, as well as overall cost to the health care system. In our opinion, the term "high risk" when applied to skin cancer can mean one of three things: a high-risk tumor with aggressive histologic and/or clinical features with an elevated risk for local recurrence or regional/distant metastasis, a high-risk patient with the ongoing development of multiple skin cancers, and a high-risk patient based on immunosuppression...
December 2016: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/27756517/lab-on-a-chip-technologies-for-genodermatoses-recent-progress-and-future-perspectives
#10
REVIEW
Cui Hongzhou, Guo Shuping, Wang Wenju, Li Li, Wei Lulu, Deng Linjun, Li Jingmin, Ren Xiaoli, Bai Li
In recent years, molecular biology has proven to be a great asset in our understanding of mechanisms in genodermatoses. However, bench to bedside translation research lags far behind. Advances in lab-on-a-chip technologies enabled programmable, reconfigurable, and scalable manipulation of a variety of laboratory procedures. Sample preparation, microfluidic reactions, and continuous monitoring systems can be integrated on a small chip. These advantages have attracted attention in various fields of clinical application including diagnosis of inherited skin diseases...
February 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27730037/cardiofacio-cutaneous-syndrome-classical-presentation-of-a-rare-genodermatoses
#11
Mahesh Prajapat, Sunil K Kothiwala, Mohit Sharma, C M Kuldeep
Cardiofacio-cutaneous syndrome is a rare genodermatoses with multiple congenital anomalies (MCA) and mental retardation. Although various mutations have been described, the diagnosis can be made clinically based on constellation of symptoms. Herein, we report a classical case with typical craniofacial features and atrial septal defect.
September 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27660117/nail-features-in-healthy-term-newborns-a-single-centre-observational-study-of-52-cases
#12
M Chinazzo, G Lorette, R Baran, A Finon, É Saliba, A Maruani
INTRODUCTION: The anatomy and embryology of the nail are well known, and nail abnormalities are a feature of many genodermatoses. However, the physiological aspect is not well described. We aimed to analyse the physiological features of nails in healthy newborns. METHODS: We performed an observational, prospective study at University Hospital Center of Tours between July and October 2015. Newborns were included by a dermatologist assistant during the systematic examination on release of the mother from the hospital...
February 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27613605/-pitted-lesions-in-dermatology
#13
REVIEW
Keshavmurthy A Adya, Arun C Inamadar, Aparna Palit
Cutaneous pitting, dimpling, or depressions are frequently dealt with in clinical practice. Such lesions may be primary manifestations of a disorder or develop as secondary changes during the course of the disease. Cutaneous pitting may be a manifestation of certain genodermatoses and internal disorders when it serves as a marker of such conditions. This article describes various types of pitted lesions affecting the ectodermal structures (skin, nails, and teeth) and their clinical significance along with brief description of the associated conditions...
January 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/27544590/inherited-epidermolysis-bullosa-and-squamous-cell-carcinoma-a-systematic-review-of-117-cases
#14
REVIEW
H Montaudié, C Chiaverini, E Sbidian, A Charlesworth, J-P Lacour
BACKGROUND: Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Level of cleavage in the skin, clinical features with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy and/or gene involved, type(s) of mutation present and sometimes specific mutation(s), allow to define the EB type and subtype. This family of genodermatoses exposes patients to several complications, cutaneous squamous cell carcinoma (cSCC) being the most severe of them...
2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27534273/mutations-in-desmoglein-1-cause-diverse-inherited-palmoplantar-keratoderma-phenotypes-implications-for-genetic-screening
#15
M-L Lovgren, M A McAleer, A D Irvine, N J Wilson, S Tavadia, M E Schwartz, C Cole, A Sandilands, F J D Smith, M Zamiri
INTRODUCTION: The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterised by thickening of the epidermis of the palms and soles. No classification system unites satisfactorily clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis: striate, focal, diffuse, and punctate. Mutations in desmoglein-1 (DSG1), a transmembrane glycoprotein, have been reported primarily in striate, but also in focal and diffuse PPKs...
August 18, 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27515981/-mucosal-manifestations-of-epidermolysis-bullosa-clinical-presentation-and-management
#16
REVIEW
C Prodinger, A Diem, J W Bauer, M Laimer
Mucosal lesions occur with different prevalence and severity in all subtypes of hereditary epidermolysis bullosa (EB), a group of rare genodermatoses. They are associated with increased morbidity and mortality, especially in severe junctional and dystrophic subtypes. Despite progress in clinical approaches to curative therapy, the management of these patients is still primarily symptom-oriented. Current recommendations mainly rely on expert opinion and experience from health care professionals of specialized centers, since the rarity of this disease largely limits the availability and feasibility of randomized controlled trials...
October 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27504564/a-proposed-classification-to-identify-the-oral-manifestations-of-genodermatoses
#17
Manika Arora, Deepa Mane
No abstract text is available yet for this article.
July 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/27449517/an-intronic-mbtps2-variant-results-in-a-splicing-defect-in-horses-with-brindle-coat-texture
#18
Leonardo Murgiano, Dominik P Waluk, Rachel Towers, Natalie Wiedemar, Joëlle Dietrich, Vidhya Jagannathan, Michaela Drögemüller, Pierre Balmer, Tom Druet, Arnaud Galichet, M Cecilia Penedo, Eliane J Müller, Petra Roosje, Monika M Welle, Tosso Leeb
We investigated a family of horses exhibiting irregular vertical stripes in their hair coat texture along the neck, back, hindquarters, and upper legs. This phenotype is termed "brindle" by horse breeders. We propose the term "brindle 1 (BR1)" for this specific form of brindle. In some BR1 horses, the stripes were also differentially pigmented. Pedigree analyses were suggestive of a monogenic X-chromosomal semidominant mode of inheritance. Haplotype analyses identified a 5 Mb candidate region on chromosome X...
2016: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/27437377/oral-manifestations-and-molecular-basis-of-oral-genodermatoses-a-review
#19
REVIEW
Kiran Kumar, A S Shilpasree, Meenakshi Chaudhary
Genodermatoses refers to group of inherited monogenic disorders with skin manifestations. Many of these disorders are rare and also have oral manifestations, called oral genodermatoses. This article provides a focused review of molecular basis of important genodermatoses that affects the oral cavity and also have prominent associated dermatologic features. In several conditions discussed here, the oral findings are distinct and may provide the first clue of an underlying genetic diagnosis. The article also emphasises on the prenatal diagnosis, genetic counselling and the treatment oral genodermatoses...
May 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27425028/genetic-testing-in-veterinary-dermatology
#20
Tosso Leeb, Eliane J Müller, Petra Roosje, Monika Welle
BACKGROUND: Molecular genetics has made significant advances in the analysis of hereditary dermatoses during the last several years. OBJECTIVES: To provide an update on currently available genetic tests for skin diseases of dogs, cats and horses, and to aid the veterinary clinician in the appropriate selection and applications of genetic tests. METHODS: The scientific literature on the topic was critically reviewed. The list of known causative variants for genodermatoses and hair morphology traits was compiled by searching the Online Mendelian Inheritance in Animals (OMIA) database...
July 18, 2016: Veterinary Dermatology
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