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https://www.readbyqxmd.com/read/28220562/systemic-allergic-contact-dermatitis-caused-by-methyl-aminolaevulinate-in-a-patient-with-keratosis-ichthyosis-deafness-syndrome
#1
Aysha Al Malki, Marie-Claude Marguery, Françoise Giordano-Labadie, Maria P Konstantinou, Lorraine Mokeddem, Laurence Lamant, Carle Paul, Aude Maza, Juliette Mazereeuw-Hautier
No abstract text is available yet for this article.
March 2017: Contact Dermatitis
https://www.readbyqxmd.com/read/28217465/cutaneous-manifestations-in-disorders-of-hepatobiliary-system
#2
Shashi K Godara, Devinder M Thappa, Biju Pottakkatt, Abdoul Hamide, Jagadisan Barath, Malathi Munisamy, Minu J Chiramel
BACKGROUND: Hepatobiliary diseases are associated with various mucocutaneous changes that are directly and indirectly associated with these diseases. There is a dearth of studies from India dealing with cutaneous manifestations in liver disorders. AIM: This study was conducted to know the spectrum of cutaneous changes and their correlation with liver function tests in patients with disorders of hepatobiliary system. METHODS: This was a descriptive study conducted among in patients and outpatients with primary hepatobiliary disorders at a tertiary care center in South India...
January 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28213896/filaggrin-loss-of-function-mutations-atopic-dermatitis-and-risk-of-actinic-keratosis-results-from-two-cross-sectional-studies
#3
Y M F Andersen, A Egeberg, E Balslev, C L T Jørgensen, P B Szecsi, S Stender, J Kaae, A Linneberg, G Gislason, L Skov, P M Elias, J P Thyssen
BACKGROUND: Common loss-of-function mutations in filaggrin gene (FLG) represent a strong genetic risk factor for atopic dermatitis (AD). Homozygous mutation carriers typically display ichthyosis vulgaris (IV) and many have concomitant AD. Previously, homozygous, but not heterozygous, filaggrin gene mutations have been associated with squamous cell carcinomas. OBJECTIVE: The first objective was to examine the association between FLG mutations and actinic keratosis (AK)...
February 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28203322/congenital-ichthyosis-a-case-treated-successfully-with-acitretin
#4
Selvi Gulasi
INTRODUCTION: Lamellar ichthyosis (collodion baby) is a cornification disorder classified under the category of autosomal recessive congenital ichthyosis and characterized by hyperkeratosis. Early-stage retinoid treatment has been shown to improve survival in these patients. In this article, a lamellar ichthyosis case is presented of an infant who had the symptoms at birth and was treated successfully with acitretin. CASE PRESENTATION: A term newborn infant presented after delivery...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28194320/congenital-upper-eyelids-ectropion-in-down-s-syndrome
#5
Rafael Corredor-Osorio, José Luis Tovilla-Pomar, José Luis Tovilla-Canales
Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down's syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down's syndrome. Management of these patients usually requires medial and lateral canthoplasties, full-thickness pentagonal resection of the upper eyelids and placement of skin grafts. We present herein the evolution of one of these patients and we will discuss the mechanism of the eyelid ectropion and its treatment...
2017: GMS Ophthalmology Cases
https://www.readbyqxmd.com/read/28173123/mutations-in-sdr9c7-gene-encoding-an-enzyme-for-vitamin-a-metabolism-underlie-autosomal-recessive-congenital-ichthyosis
#6
Yohya Shigehara, Shujiro Okuda, Georges Nemer, Adele Chedraoui, Ryota Hayashi, Fadi Bitar, Hiroyuki Nakai, Ossama Abbas, Laetitia Daou, Riichiro Abe, Maria Bou Sleiman, Abdul Ghani Kibbi, Mazen Kurban, Yutaka Shimomura
No abstract text is available yet for this article.
October 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28165343/sphingosine-1-phosphate-lyase-mutations-cause-primary-adrenal-insufficiency-and-steroid-resistant-nephrotic-syndrome
#7
Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj, Eirini Meimaridou, Federica Buonocore, Moin Saleem, Jenny Hurcombe, Agnieszka Bierzynska, Eliana Barbagelata, Ignacio Bergadá, Hamilton Cassinelli, Urmi Das, Ruth Krone, Bulent Hacihamdioglu, Erkan Sari, Ediz Yesilkaya, Helen L Storr, Maria Clemente, Monica Fernandez-Cancio, Nuria Camats, Nanik Ram, John C Achermann, Paul P Van Veldhoven, Leonardo Guasti, Debora Braslavsky, Tulay Guran, Louise A Metherell
Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). SGPL1 executes the final decisive step of the sphingolipid breakdown pathway, mediating the irreversible cleavage of the lipid-signaling molecule sphingosine-1-phosphate (S1P). Mutations in other upstream components of the pathway lead to harmful accumulation of lysosomal sphingolipid species, which are associated with a series of conditions known as the sphingolipidoses...
February 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28165339/mutations-in-sphingosine-1-phosphase-lyase-cause-nephrosis-with-ichthyosis-and-adrenal-insufficiency
#8
Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Won-Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A Braun, Carolin E Sadowski, Eugen Widmeier, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Monica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, Francois P Bernier, A Micheil Innes, Jillian S Parboosingh, Ryan E Lamont, Julian P Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuss, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Nuria Lloberas, Alvaro Madrid, Vikas R Dharnidharka, Anne M Connolly, Marcia C Willing, Megan A Cooper, Richard P Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D Saba, Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase...
February 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28158657/revertant-mosaicism-repair-skin-lesions-in-a-patient-with-keratitis-ichthyosis-deafness-kid-syndrome-by-second-site-mutations-in-connexin-26
#9
Sanna Gudmundsson, Maria Wilbe, Sara Ekvall, Adam Ameur, Nicola Cahill, Ludmil B Alexandrov, Marie Virtanen, Maritta Hellström Pigg, Anders Vahlquist, Hans Törmä, Marie-Louise Bondeson
No abstract text is available yet for this article.
February 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28133821/total-skin-electron-therapy-as-treatment-for-epitheliotropic-lymphoma-in-a-dog
#10
Domenico Santoro, Lyndsay Kubicek, Bo Lu, William Craft, Julia Conway
BACKGROUND: Mycosis fungoides (MF) is an uncommon cutaneous neoplasm in dogs. Treatment options are limited. Total skin electron therapy (TSET) has been suggested as a possible therapy for canine MF. OBJECTIVE: To describe the use of TSET as palliative treatment for MF in a dog. RESULTS: An adult dog, previously diagnosed with nonepidermolytic ichthyosis, was presented with generalized erythroderma, alopecia and erosions. Histopathology revealed a densely cellular, well-demarcated, unencapsulated infiltrate extending from the epidermis to the mid-dermis compatible with MF...
January 29, 2017: Veterinary Dermatology
https://www.readbyqxmd.com/read/28122887/expanding-the-genetic-spectrum-of-anos1-mutations-in-patients-with-congenital-hypogonadotropic-hypogonadism
#11
C I Gonçalves, F Fonseca, T Borges, F Cunha, M C Lemos
STUDY QUESTION: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)? SUMMARY ANSWER: Three of forty-two (7.1%) patients presented ANOS1 mutations, including a novel splice site mutation leading to exon skipping and a novel contiguous gene deletion associated with ichthyosis. WHAT IS KNOWN ALREADY: CHH is characterized by lack of pubertal development and infertility, due to deficient production, secretion or action of GnRH, and can be associated with anosmia/hyposmia (Kallmann syndrome, KS) or with a normal sense of smell (normosmic CHH)...
January 24, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28122049/a-defect-in-nipal4-is-associated-with-autosomal-recessive-congenital-ichthyosis-in-american-bulldogs
#12
Margret L Casal, Ping Wang, Elizabeth A Mauldin, Gloria Lin, Paula S Henthorn
Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Sequencing of NIPAL4 revealed a homozygous single base deletion (CanFam3.1 canine reference genome sequence NC_06586.3 g.52737379del), the 157th base (cytosine) in exon 6 of NIPAL4 as the most likely causative variant in affected dogs. This frameshift deletion results in a premature stop codon producing a truncated and defective NIPAL4 (ichthyin) protein of 248 amino acids instead of the wild-type length of 404...
2017: PloS One
https://www.readbyqxmd.com/read/28121638/epidermolytic-ichthyosis-sine-epidermolysis
#13
Marina Eskin-Schwartz, Marianna Drozhdina, Ofer Sarig, Andrea Gat, Tomer Jackman, Ofer Isakov, Noam Shomron, Liat Samuelov, Natalia Malchin, Alon Peled, Dan Vodo, Alain Hovnanian, Thomas Ruzicka, Sergei Koshkin, Robert M Harmon, Jennifer L Koetsier, Kathleen J Green, Amy S Paller, Eli Sprecher
Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI...
January 17, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28111777/vegetating-candidiasis-a-mimicker-of-squamous-cell-carcinoma-in-keratitis-ichthyosis-deafness-syndrome
#14
Ximena Calderón-Castrat, Julio Vega-Zuñiga, Felipe Velásquez, Rosalía Ballona
Keratitis ichthyosis deafness (KID) syndrome is a rare genodermatosis with a high risk of cutaneous malignancy and infections. Infections can induce pseudocarcinomatous epidermal hyperplasia, leading to erroneous diagnosis of squamous cell carcinoma. We present a pediatric case of KID syndrome with vegetating plantar and acral candidiasis and highlight the importance of correct biopsy technique and clinicopathologic correlation in appropriate management.
January 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28093717/16-novel-mutations-in-pnpla1-in-patients-with-autosomal-recessive-congenital-ichthyosis-reveal-the-importance-of-an-extended-patatin-domain-in-pnpla1-that-is-essential-for-proper-human-skin-barrier-function
#15
A D Zimmer, G J Kim, A Hotz, E Bourrat, I Hausser, C Has, V Oji, K Stieler, A Vahlquist, V Kunde, B Weber, F P W Radner, S Leclerc-Mercier, N Schlipf, P Demmer, J Küsel, J Fischer
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous group of rare Mendelian skin disorders characterized by cornification and differentiation defects of keratinocytes. Mutations in nine genes including PNPLA1 are known to cause non-syndromic forms of ARCI. To date, only ten distinct pathogenic mutations in PNPLA1 have been reported. OBJECTIVES: To identify new causative PNPLA1 mutations, we screened genetically unresolved cases including our ARCI collection comprising more than 700 families...
January 17, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28067622/a-homozygous-fitm2-mutation-causes-a-deafness-dystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy
#16
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P van de Warrenburg, Chiea Chuen Khor, Martin C Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals...
December 15, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28017832/autosomal-recessive-keratoderma-ichthyosis-deafness-arkid-syndrome-is-caused-by-vps33b-mutations-affecting-rab-protein-interaction-and-collagen-modification
#17
Robert Gruber, Clare Rogerson, Christian Windpassinger, Blerida Banushi, Anna Straatman-Iwanowska, Joanna Hanley, Federico Forneris, Robert Strohal, Peter Ulz, Debra Crumrine, Gopinathan K Menon, Stefan Blunder, Matthias Schmuth, Thomas Müller, Holly Smith, Kevin Mills, Peter Kroisel, Andreas R Janecke, Paul Gissen
Here we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Bi-allelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein which interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen modifying enzyme LH3. Two patients were homozygous for the missense variant p.Gly131Glu, whilst one patient was compound heterozygous for p.Gly131Glu and the splice site mutation c.240-1G>C, previously reported in patients with Arthrogryposis Renal dysfunction and Cholestasis syndrome...
December 22, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27999114/improved-management-of-harlequin-ichthyosis-with-advances-in-neonatal-intensive-care
#18
REVIEW
Jaimie B Glick, Brittany G Craiglow, Keith A Choate, Hugo Kato, Robert E Fleming, Elaine Siegfried, Sharon A Glick
Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. HI is caused by mutations in the lipid transporter adenosine triphosphate binding cassette A 12 (ABCA12). Neonates are born with a distinct clinical appearance, encased in a dense, platelike keratotic scale separated by deep erythematous fissures. Facial features are distorted by severe ectropion, eclabium, flattened nose, and rudimentary ears. Skin barrier function is markedly impaired, which can lead to hypernatremic dehydration, impaired thermoregulation, increased metabolic demands, and increased risk of respiratory dysfunction and infection...
January 2017: Pediatrics
https://www.readbyqxmd.com/read/27982550/desmosomes-and-corneodesmosomes-and-their-relevance-to-genetic-skin-diseases
#19
Akemi Ishida-Yamamoto, Mari Kishibe, Masaru Honma
Desmosomes are critical intercellular junctions between keratinocytes in the living cell layers of the epidermis. When the cells are differentiated and become cornified cells, desmosomes are transformed into corneodesmosomes. Distribution patterns of corneodesmosomes change with cell development. Namely, in the lower stratum corneum, corneodesmosomes are seen all around the cell membrane, but in the upper layers, they are only found at the edges of the flattened cells. Recently, it has been proposed that tight junction-derived structures are involved in this unique distribution of corneodesmosomes by protecting corneodesmosome degradation from proteases...
April 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/27934529/omega-o-acylceramides-in-skin-lipid-membranes-effects-of-concentration-sphingoid-base-and-model-complexity-on-microstructure-and-permeability
#20
Lukáš Opálka, Andrej Kováčik, Jaroslav Maixner, Kateřina Vávrová
Omega-O-acylceramides (acylCer), a subclass of sphingolipids with an ultralong N-acyl chain (from 20 to 38 carbons, most usually 30 and 32 carbons), are crucial components of the skin permeability barrier. AcylCer are involved in the formation of the long periodicity lamellar phase (LPP, 12-13 nm), which is essential for preventing water loss from the body. Lower levels of acylCer and LPP accompany skin diseases, such as atopic dermatitis, lamellar ichthyosis, and psoriasis. We studied how the concentration and structure of acylCer influence the organization and permeability barrier properties of model lipid membranes...
December 6, 2016: Langmuir: the ACS Journal of Surfaces and Colloids
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