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Alberto Cerra-Franco, Sara J Grethlein, Todd E Bertrand, William A Wooden, Naoyuki G Saito
No abstract text is available yet for this article.
January 2018: Advances in Radiation Oncology
Elizabeth A Mauldin, Debra Crumrine, Margret L Casal, Sekyoo Jeong, Lukáš Opálka, Katerina Vavrova, Yoshikazu Uchida, Kyungho Park, Brittany Craiglow, Keith A Choate, Kyong-Oh Shin, Yong-Moon Lee, Gary L Grove, Joan S Wakefield, Denis Khnykin, Peter M Elias
Mutations in several lipid synthetic enzymes that block fatty acid and ceramide production produce autosomal recessive congenital ichthyosis (ARCI) and associated abnormalities in permeability barrier homeostasis. Yet, the basis for the phenotype in patients with NIPAL4 (ichthyin) mutations (among the most prevalent ARCI) remains unknown. Barrier function was abnormal in an index patient and in canines with homozygous NIPAL4 mutations, attributable to extensive membrane stripping, likely from detergent effects of nonesterified free FFA...
March 13, 2018: American Journal of Pathology
Saumita Ghosh Biswal, Rajesh Datt Mehta
Background: The diagnosis of cutaneous adversities in the cancer patient is especially difficult, given the complexity of their illness and combination protocols used for the treatment. The present study was undertaken to know the spectrum of cutaneous adversities in patients undergoing chemotherapy and the drug(s) most commonly associated with it. Materials and Methods: A total of 1000 patients with malignancies under chemotherapy in the oncology ward and outpatient department were screened in this observational study from January 2013 to February 2015...
January 2018: Indian Journal of Dermatology
Joseph Overland, Bruce Johnstone
No abstract text is available yet for this article.
March 6, 2018: ANZ Journal of Surgery
Anna Kutkowska-Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski, Kamila Kłosowska-Kosicka, Adriana Mika, Jakub Gruchota, Elżbieta Jurkiewicz, Cezary Kowalewski, Agnieszka Pollak, Teresa Joanna Stradomska, Tomasz Kmieć, Rafał Jakubowski, Piotr Gasperowicz, Anna Walczak, Dariusz Śladowski, Ewa Jankowska-Steifer, Lech Korniszewski, Joanna Kosińska, Ewa Obersztyn, Wieslaw Nowak, Tomasz Śledziński, Andrzej Dziembowski, Rafał Płoski
BACKGROUND: Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. OBJECTIVES: To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD) observed in two unrelated paediatric probands without family history of disease. METHODS: Whole exome sequencing was performed in both patients...
March 1, 2018: Journal of Medical Genetics
Haoming Xu, Klaus J Busam, Michael J Mauro, Alina Markova
Cutaneous adverse events are commonly experienced with use of tyrosine kinase inhibitors in the treatment of leukemia and typically include nonspecific cutaneous eruptions and xerosis. We report the case of a man who experienced an ichthyosiform drug eruption while taking ponatinib, a third-generation tyrosine kinase inhibitor. Disruption of epidermal growth pathways through inhibition of various receptor tyrosine kinases by ponatinib may offer insights into the pathophysiologic mechanisms behind acquired ichthyosis...
October 15, 2017: Dermatology Online Journal
David Simkin, Jonathan D Ho, Daren J Simkin, Kevin Tomany
Pseudoainhum is a rare constriction band variant thatmay progress to spontaneous digital strangulationand auto-amputation. Although its association withpalmoplantar keratodermas is well established, ithas not been reported in conjunction with classicepidermolytic ichthyosis. We describe the first suchcase in a 25-year-old woman who presented witha painful constricting band of the fifth toe. We alsodescribe her treatment course, which consisted ofa failed z-plasty, the traditional therapeutic optionfor acute pseudoainhum, and report the success ofsubsequent full thickness skin graft, suggesting thebenefit of this procedure as a therapeutic alternativefor patients with pseudoainhum...
January 15, 2018: Dermatology Online Journal
Debora Rapaport, Boris Fichtman, Hilla Weidberg, Eli Sprecher, Mia Horowitz
Intracellular membrane fusion depends on the presence of specific mediators, the vesicle (v-) and the target (t-) SNAREs (Soluble N-ethylmaleimide-sensitive factor, NSF, attachment protein SNAP receptors), whose interaction brings apposing membranes to close proximity and initiates their fusion. SNAP29 (synaptosomal-associated protein 29), a t-SNARE protein, is involved in multiple fusion events during intracellular transport and affects structure of organelles such as the Golgi apparatus and focal adhesions...
February 15, 2018: Biochemical and Biophysical Research Communications
Brett Neill, Ted Ryser, John Neill, Daniel Aires, Anand Rajpara
BACKGROUND: Hydroxyurea is an antimetabolite primarily used to treat myeloproliferative disorders, and chronic treatment is associated with many cutaneous adverse effects ranging in severity from ichthyosis to aggressive nonmelanoma skin cancer. CASE PRESENTATION: We report a 67-year-oldman with a history of polycythemia vera who was referred for management of progressively worsening dorsal hand lesions. The patient presented withhyperpigmentation, ichthyosis, plantar keratoderma, dermatomyositis-like eruptions, two squamous cell carcinomas, and actinic keratoses...
November 15, 2017: Dermatology Online Journal
J C Sitek, M A Kulseth, K B Rypdal, T Skodje, Y Sheng, L Retterstøl
BACKGROUND: Hereditary ichthyosis constitutes a diverse group of cornification disorders. Identification of the molecular cause facilitates optimal patient care. OBJECTIVE: We wanted to estimate the diagnostic yield of applying whole-exome sequencing (WES) in the routine genetic work-up of inherited ichthyosis. METHODS: During a 3-year-period, all ichthyosis patients, except X-linked and mild vulgar ichthyosis, consecutively admitted to a university hospital clinic were offered WES with subsequent analysis of ichthyosis-related genes as a first-line genetic investigation...
February 14, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Tian Ran Zhu, Jonathan Bass, Scott Schmidt
Ichthyosis is a broad and loosely defined group of hereditary and acquired disorders characterized by filaggrin dysfunction and impaired epidermal homeostasis that results in dry, scaly and thickened skin. Individuals with truncation mutations in the profilaggrin gene coding for filaggrin are strongly predisposed to severe forms of ichthyosis. The phenotypical expression of ichthyosis caused by the same genotypical mutation can vary considerably in severity and in regards to how much constricting scar tissue develops...
September 2017: Journal of Surgical Case Reports
Clare Rogerson, Paul Gissen
Mutations in VPS33B and VIPAS39 cause the severe multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome. Amongst other symptoms, patients with ARC syndrome suffer from severe ichthyosis. Roles for VPS33B and VIPAR have been reported in lysosome-related organelle biogenesis, integrin recycling, collagen homeostasis and maintenance of cell polarity. Mouse knockouts of Vps33b or Vipas39 are good models of ARC syndrome and develop an ichthyotic phenotype. We demonstrate that the skin manifestations in Vps33b and Vipar deficient mice are histologically similar to those of patients with ARC syndrome...
January 30, 2018: Biochimica et Biophysica Acta
Hui-Juan Zhao, Xin Zeng, Peng-Cheng Lei, Xiao-Dan Jiang, Xue-Min Li, Hui-Min Yan, Du-Yi Guo, Xue-Yan Lu, Wei Jiang
No abstract text is available yet for this article.
February 1, 2018: European Journal of Dermatology: EJD
Joseph J Shen, Jason Carmichael, Leoncio Vásquez Santos
An important aspect of genetic counseling is the recognition of and adaptation to the socio-cultural uniqueness of the different populations that a genetics clinic serves. The Central Valley of California is home to a large population from Mexico, with a significant proportion of indigenous ancestry originating from the state of Oaxaca. We report on our experience with two families of this community-one extended family with an early lethal inborn error of metabolism and the other with a chronic disfiguring form of ichthyosis...
February 3, 2018: Journal of Genetic Counseling
Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti-Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Ficicioglu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura A Adang
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis...
March 2018: Molecular Genetics and Metabolism
Madiha Rasheed, Noreen Karim, Faiez Ahmed Shah, Muhammad Naeem
No abstract text is available yet for this article.
January 9, 2018: Pediatrics and Neonatology
Muhammad Anees, Ghazala Butt, Shaista Gull, Asif Nazeer, Ijaz Hussain, Muhammad Ibrahim
OBJECTIVE: To determine skin changes in patients of End Stage Renal Disease (ESRD) on maintenance hemodialysis (MHD) and factors affecting these changes. STUDY DESIGN: Cross-sectional observational study. PLACE AND DURATION OF STUDY: Nephrology Department, Mayo Hospital, Lahore in collaboration with Dermatology Department, King Edward Medical University, Lahore, from October 2015 to January 2016. METHODOLOGY: Two hundred patients who were undergoing MHD for more than three months were included in the study...
February 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Alina Mariela Murgu, Irina Geanina Crişcov, Silvia Fotea, Ginel Baciu, Anca Chiriac, Elena Tarca, Violeta Streanga
RATIONALE: Collodion baby is a rare autosomal recessive disorder. It can be the first expression of some forms of ichthyosis. PATIENT CONCERNS: The authors present the case of a newborn diagnosed with severe Collodion baby syndrome who required prolonged hospitalization in the intensive care unit because of infectious complications like the fungal sepsis and other bacterial superinfections. DIAGNOSES: The case has many diagnostic and therapeutic particularities and management difficulties...
December 2017: Medicine (Baltimore)
Ki Dong Ko, Kyoung Kon Kim, Jin-Ok Baek, Heuy Sun Suh, In Cheol Hwang
Ichthyosis is a heterogeneous group of hereditary or acquired skin disorders, characterized by increased stratum corneum production. Several systemic diseases and many drugs can occasionally cause acquired ichthyosis. We report a case of statin-induced ichthyosis in which the causality between statin and ichthyosis was found possible by using the Naranjo scale. A 79-year-old woman presented with pruritic skin lesions on both legs that appeared erythematous, scaly, and cracked. A clinical diagnosis of acquired ichthyosis was made and the statin was suspected as the cause...
January 2018: Korean Journal of Family Medicine
Jayesh J Sheth, Riddhi Bhavsar, Dhairya Patel, Aishwarya Joshi, Frenny J Sheth
BACKGROUND: Harlequin ichthyosis (HI) is a severe genetic disorder caused by the mutation in the ABCA12 gene. Infants born with this condition have markedly thickened, hard stratum corneum skin all over the body. METHODS: A female child born with a thick white plate of skin with deep cracks all over the body was investigated for genes associated with congenital Ichthyosis by Next Generation sequencing. The variant relevant to the clinical indications was identified using Picard and GATK version 3...
January 29, 2018: International Journal of Dermatology
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