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Genodermatoses

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https://www.readbyqxmd.com/read/29761773/-dyskeratosis-follicularis
#1
Inger Lily Dorf, Mette Sommerlund, Ann-Bine Skytte, Uffe Koppelhus
Dyskeratosis follicularis (or Darier's disease) is a genetic skin disease with an autosomal dominant inheritance and a prevalence of 1:100,000-1:35,000. Mutations in the gene ATP2A2 encoding the Ca2+-ATPase SERCA2 in the endoplasmatic reticulum lead to acantholysis and dyskeratosis in the epidermis, nails and mucosal membranes with resultant brown-yellow coloured, often infested skin papules and nail changes. The newly established Danish database for genodermatoses is embarking on an extensive registration of all Danish patients with Darier's disease...
May 7, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29760616/high-frequency-of-primary-hereditary-ichthyoses-in-the-north-east-region-of-cairo-egypt
#2
Nermine El-Sayed, Neveen S Seifeldin, Christine K T Gobrial
Introduction: Inherited ichthyoses are caused by mutations in various genes important for keratinocyte differentiation and epidermal barrier function. Although ichthyoses are rare disorders, they require costly long-term medical management, and thus there is a need for efficient preventive and therapeutic strategies. Aim: We performed a retrospective study to determine the frequency, types, clinical presentation and associated genomic errors of primary hereditary ichthyoses in Egyptian patients and their relatives consulting the Genetics Clinic, Pediatric Hospital, Ain Shams University...
April 2018: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/29593249/inside-out-regenerative-medicine-for-recessive-dystrophic-epidermolysis-bullosa
#3
REVIEW
Michael Vanden Oever, Kirk Twaroski, Mark J Osborn, John E Wagner, Jakub Tolar
Epidermolysis bullosa is classified as a genodermatosis, an inherited genetic skin disorder that results in severe, chronic skin blistering with painful and life-threatening complications. Although there is currently no cure for epidermolysis bullosa, concurrent advances in gene and stem cell therapies are converging toward combinatorial therapies that hold the promise of clinically meaningful and lifelong improvement. Recent studies using hematopoietic stem cells and mesenchymal stromal/stem cells to treat epidermolysis bullosa have demonstrated the potential for sustained, effective management of the most severe cases...
January 2018: Pediatric Research
https://www.readbyqxmd.com/read/29360906/pediatric-leg-ulcers-going-out-on-a-limb-for-the-diagnosis
#4
Kate E Oberlin
This article exhibits the most common differential diagnoses for pediatric leg ulcers and contrasts the etiologies with the adult population. The diagnoses are further categorized into hematologic, infectious, genodermatoses, and autoimmune etiologies to help the dermatologist deduce the accurate diagnosis in this unique patient population.
December 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29284525/disease-specific-health-related-quality-of-life-patient-reported-outcome-measures-in-genodermatoses-a-systematic-review-and-critical-evaluation
#5
REVIEW
John W Frew, Mark Davidson, Dedee F Murrell
BACKGROUND: Health Related Quality of Life (HR-QoL) Patient reported outcome measures (PROMs) have high utility in evaluation of new interventions in genodermatoses, however inconsistent standards of development and validation have hampered widespread acceptance and adoption. OBJECTIVES: To identify all published HR-QoL PROMs in genodermatoses and critically evaluate their development and measurement properties. METHODS: This systematic review was registered with PROSPERO (CRD42016053301)...
December 29, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29236125/-laser-treatment-of-basal-cell-carcinoma
#6
REVIEW
C Salavastru, G S Tiplica, K Fritz
With a clear increase in the incidence and a continuously earlier onset, the main risk factors for the development of basal cell carcinoma are still exposure to sunlight, fair skin, immunosuppression, carcinogens such as arsenic, chronic irritations and certain genodermatoses. Treatment options for localized resectionable basal cell carcinoma include micrographically controlled surgery, simple excision, curettage, laser ablation, cryosurgery, imiquimod, 5‑fluorouracil, photodynamic treatment and radiotherapy...
January 2018: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/29200755/current-and-future-perspectives-of-stem-cell-therapy-in-dermatology
#7
REVIEW
Christine M Prodinger, Julia Reichelt, Johann W Bauer, Martin Laimer
Stem cells are undifferentiated cells capable of generating, sustaining, and replacing terminally differentiated cells and tissues. They can be isolated from embryonic as well as almost all adult tissues including skin, but are also generated through genetic reprogramming of differentiated cells. Preclinical and clinical research has recently tremendously improved stem cell therapy, being a promising treatment option for various diseases in which current medical therapies fail to cure, prevent progression or relieve symptoms...
December 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/29130490/sequence-variants-in-nine-different-genes-underlying-rare-skin-disorders-in-10-consanguineous-families
#8
Khadim Shah, Sabba Mehmood, Abid Jan, Izoduwa Abbe, Raja Hussain Ali, Anwar Khan, Muhammad S Chishti, Kwanghyuk Lee, Farooq Ahmad, Muhammad Ansar, Shaheen Shahzad, Deborah A Nickerson, Michael J Bamshad, Paul J Coucke, Regie L P Santos-Cortez, Richard A Spritz, Suzanne M Leal, Wasim Ahmad
BACKGROUND: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study. METHODS: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. RESULTS: Exome sequencing identified seven homozygous sequence variants in different families, including: c...
December 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29106911/stem-cells-niches-and-scaffolds-applications-to-burns-and-wound-care
#9
REVIEW
Suzanne M Watt, Jonathan M Pleat
The importance of skin to survival, and the devastating physical and psychological consequences of scarring following reparative healing of extensive or difficult to heal human wounds, cannot be disputed. We discuss the significant challenges faced by patients and healthcare providers alike in treating these wounds. New state of the art technologies have provided remarkable insights into the role of skin stem and progenitor cells and their niches in maintaining skin homeostasis and in reparative wound healing...
January 1, 2018: Advanced Drug Delivery Reviews
https://www.readbyqxmd.com/read/29100394/effects-of-photodynamic-therapy-on-dermal-fibroblasts-from-xeroderma-pigmentosum-and-gorlin-goltz-syndrome-patients
#10
Alicia Zamarrón, Marta García, Marcela Del Río, Fernando Larcher, Ángeles Juarranz
PDT is widely applied for the treatment of non-melanoma skin cancer pre-malignant and malignant lesions (actinic keratosis, basal cell carcinoma and in situ squamous cell carcinoma). In photodynamic therapy (PDT) the interaction of a photosensitizer (PS), light and oxygen leads to the formation of reactive oxygen species (ROS) and thus the selective tumor cells eradication. Xeroderma pigmentosum (XP) and Gorlin-Goltz Syndrome (GS) patients are at high risk of developing skin cancer in sun-exposed areas. Therefore, the use of PDT as a preventive treatment may constitute a very promising therapeutic modality for these syndromes...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29029902/spectrum-of-orocutaneous-disease-associations-genodermatoses-and-inflammatory-conditions
#11
REVIEW
Elizabeth G Wilder, Jillian Frieder, Suraj Sulhan, Pablo Michel, Jeffrey D Cizenski, John M Wright, M Alan Menter
The oral cavity and cutaneous organ systems share a close embryologic origin. Therefore, there are numerous dermatologic conditions presenting with concomitant oral findings of which the dermatologist must be aware. The second article in this continuing medical education series reviews inflammatory orocutaneous conditions and a number of genodermatoses. It is essential for dermatologists to be familiar with oral cavity manifestations associated with dermatologic diseases for prompt diagnosis, management, and appropriate referral to stomatology and dentistry...
November 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28892093/rapid-generation-of-col7a1-mouse-model-of-recessive-dystrophic-epidermolysis-bullosa-and-partial-rescue-via-immunosuppressive-dermal-mesenchymal-stem-cells
#12
Beau R Webber, Kyle T O'Connor, Ron T McElmurry, Elise N Durgin, Cindy R Eide, Christopher J Lees, Megan J Riddle, Wendy E Mathews, Natasha Y Frank, Mark A Kluth, Christoph Ganss, Branden S Moriarity, Markus H Frank, Mark J Osborn, Jakub Tolar
Recessive dystrophic epidermolysis bullosa (RDEB) is a debilitating and ultimately lethal blistering disease caused by mutations to the Col7a1 gene. Development of novel cell therapies for the treatment of RDEB would be fostered by having immunodeficient mouse models able to accept human cell grafts; however, immunodeficient models of many genodermatoses such as RDEB are lacking. To overcome this limitation, we combined the clustered regularly interspaced short palindromic repeats and associated nuclease (CRISPR/Cas9) system with microinjection into NOD/SCID IL2rγcnull (NSG) embryos to rapidly develop an immunodeficient Col7a1-/- mouse model of RDEB...
October 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28831430/analogs-of-human-genetic-skin-disease-in-domesticated-animals
#13
REVIEW
Justin Finch, Stephanie Abrams, Amy Finch
Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. This manuscript will explain and depict some genetic skin diseases that occur in both humans and domestic animals and offer a connection and memorization aid for physicians...
September 2017: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/28782140/dermoscopic-and-reflectance-confocal-microscopic-presentation-of-hailey-hailey-disease-a-case-series
#14
A Oliveira, E Arzberger, B Pimentel, V C de Sousa, P Leal-Filipe
BACKGROUND/PURPOSE: Hailey-Hailey disease is a rare inherited acantholytic skin disorder characterized by heterogeneous clinical presentation. Its differential diagnosis might be wide, including other genodermatoses, inflammatory, and infectious skin diseases. Although histopathology remains as diagnostic gold standard, noninvasive techniques such as dermoscopy and reflectance confocal microscopy may assist clinical examination. Herein, we aim to further characterize the dermoscopic and reflectance confocal microscopic presentation of Hailey-Hailey disease with histologic correlation...
February 2018: Skin Research and Technology
https://www.readbyqxmd.com/read/28627087/familial-seborrhoeic-keratosis-associated-with-multiple-pure-reticulated-acanthomas-and-infundibulocystic-basal-cell-carcinomas
#15
J Agustí Martínez, R Bella-Navarro, A B García-García, E Bueno, R González-Sarmiento, L Navarro, B Sanchez-Sendra, A Revert, E Jordá, C Monteagudo
BACKGROUND: A variety of genodermatoses with multiple cutaneous tumours and germline genetic alterations, such as PTCH1 mutations, have been described. Other cutaneous syndromes have been associated with somatic gene mutations, such as FGFR3 in familial seborrhoeic keratosis. OBJECTIVES: To describe the clinical, dermoscopic and histopathological features of multiple cutaneous lesions, mostly infundibulocystic basal cell carcinomas (ICBCCs) and pure reticulated acanthomas, present in a family affected by familial seborrhoeic keratosis...
December 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28622433/research-on-genodermatoses-using-novel-genome-editing-tools
#16
REVIEW
Janin Lehmann, Christina Seebode, Steffen Emmert
Genodermatoses comprise a clinically heterogeneous group of mostly devastating disorders affecting the skin. To date, treatment options have in general been limited to symptom relief. However, the recent technical evolution in genome editing has ushered in a new era in the development of causal therapies for rare monogenetic diseases such as genodermatoses. The present review revisits the advantages and drawbacks of engineered nuclease tools currently available: zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs), meganucleases, and - the most innovative - clustered regularly interspaced short palindromic repeats (CRISPR)-associated (Cas) nuclease 9 (CRISPR/Cas9) system...
August 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28575648/mutations-in-sult2b1-cause-autosomal-recessive-congenital-ichthyosis-in-humans
#17
Lisa Heinz, Gwang-Jin Kim, Slaheddine Marrakchi, Julie Christiansen, Hamida Turki, Marc-Alexander Rauschendorf, Mark Lathrop, Ingrid Hausser, Andreas D Zimmer, Judith Fischer
Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Using whole-exome sequencing (WES) and multigene panel screening, we identified 6 ARCI-affected individuals from three unrelated families with mutations in Sulfotransferase family 2B member 1 (SULT2B1), showing their causative association with ARCI...
June 1, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28485881/ist-das-bull%C3%A3-se-pemphigoid-eine-verkappte-genodermatose
#18
EDITORIAL
Heiko Traupe
No abstract text is available yet for this article.
May 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28447236/the-history-of-an-unknown-dermatological-wax-collection-from-cluj-napoca-university-iuliu-hatieganu-romania
#19
Alexandru-Dumitru Tataru, Dan Tataru, Maria Grazia Roccia, Katlein França, Massimo Fioranelli, Torello Lotti
Among the dermatological wax collections across Europe, one of the latest created is the collection from Cluj-Napoca University, Romania. The initiator was Professor Coriolan Tataru and the moulage artist employed was Dr. Richard Hoffmann. Between the years 1923 and 1928, around 200 wax moulages were made, all realised after patients hospitalised in the clinic. The majority of cases represent the dermatological infectious pathology of that time: syphilis, cutaneous tuberculosis and mycetomas. Other interesting moulages represent genodermatoses, pelagra, different cutaneous cancers, and atypical aspects of common diseases like psoriasis and eczemas...
October 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28421730/facies-the-value-of-an-old-diagnostic-tip-in-pediatric-dermatology
#20
Carmelo Schepis, Corrado Romano
The authors examine what's meant as facies in medicine. After an introduction to the word's understanding, they move on listing some dermatological conditions associated to peculiar facies in the child. Starting from atopic dermatitis, the authors develop an algorithm including Genodermatoses, Neurocutaneous Disorders, and Multiple Congenital Anomalies Syndromes. They emphasize the distinctive features of the lesions on the face and their fundamental diagnostic importance.
April 19, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
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