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Ichthyosis

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https://www.readbyqxmd.com/read/28730607/concurrent-chondrodysplasia-punctata-type-2-conradi-hunermann-happle-syndrome-and-ichthyosis-vulgaris-in-teenaged-twin-girls
#1
Haneol S Jeong, Tara Funari, Katherine Gordon, Gabriele Richard, Nnenna G Agim
We present concurrent X-linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next-generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c...
July 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28717930/understanding-the-phenotypic-similarities-between-ifap-and-olmsted-syndrome-from-a-molecular-perspective-the-interaction-of-mbtps2-and-trpv3
#2
Georges Nemer, Rémi Safi, Firas Kreidieh, Julnar Usta, Christina Bergqvist, Farah Ballout, Waed Btadini, Nour Hamzeh, Ossama Abbas, Abdul Ghani Kibbi, Yutaka Shimomura, Mazen Kurban
Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) is a severe rare genetic disorder caused by mutations in the gene encoding the Membrane-Bound Transcription Factor Peptidase, Site 2 (MBTPS2). Olmsted syndrome is another rare genetic disease with overlapping clinical features caused by mutations in the gene encoding the Transient Receptor Potential Cation Channel, subfamily V (TRPV3). Mutations in MBTPS2 have been recently reported in Olmsted syndrome, underscoring the overlap and the confusion in separating Olmsted from IFAP syndrome...
July 17, 2017: Archives of Dermatological Research
https://www.readbyqxmd.com/read/28710038/steroid-sulfatase-and-filaggrin-mutations-in-a-boy-with-severe-ichthyosis-elevated-serum-ige-level-and-moyamoya-syndrome
#3
Qian Zhang, Nuo Si, Yaping Liu, Dong Zhang, Rong Wang, Yan Zhang, Shuo Wang, Xingju Liu, Xiaofeng Deng, Yonggang Ma, Peicong Ge, Jizong Zhao, Xue Zhang
X-linked ichthyosis (XLI) is a relatively common, recessive condition caused by mutations in the steroid sulfatase (STS) gene. Common loss-of-function mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and predispose individuals to atopic eczema. We report a case of a 6-year-old boy who presented with unusually severe XLI, an increased serum immunoglobulin E level (2120IU/ml) and moyamoya angiopathy. Whole-exome sequencing identified a gross deletion encompassing the STS in Xp22.31 and the p.K4022X FLG mutation...
July 11, 2017: Gene
https://www.readbyqxmd.com/read/28709564/current-and-emerging-concepts-in-atopic-dermatitis-pathogenesis
#4
Marguerite Sullivan, Nanette B Silverberg
Atopic dermatitis is a common skin disorder with a complex, evolving pathogenesis. Research on the pathogenesis has shifted from focusing primarily on generalized immune system abnormalities in T helper 1/T helper 2 (Th1/Th2) activity to more targeted immune and skin barrier abnormalities contributing to the overall phenotype. Specific signaling pathways recently implicated in atopic dermatitis include production of interleukin (IL) 4 and IL-13, which promote immunoglobulin E production, Th17 and Th22 cells, and production of cytokines...
July 2017: Clinics in Dermatology
https://www.readbyqxmd.com/read/28654459/hodgkin-lymphoma-in-a-patient-with-ifap-syndrome-a-case-report-and-review-of-literature
#5
Nader Shakibazad, Mahdi Shahriari, Soroor Inaloo
The IFAP syndrome is a rare X-linked recessive inheritance disorder with defect of the MBTPS2 gene defined by the triad of follicular ichthyosis, alopecia, and photophobia. A total of 40 cases has been reported, but no correlation with Hodgkin lymphoma has been reported yet. A 3.5-year-old boy was diagnosed with IFAP syndrome confirmed by Next Generation Sequencing. He was on regular follow-up when he developed prolonged fever and lymphadenopathy. His lymph node biopsy showed Hodgkin lymphoma with mixed cellularity subtype...
June 26, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28653176/amino-acid-synthesis-deficiencies
#6
REVIEW
T J de Koning
In recent years the number of disorders known to affect amino acid synthesis has grown rapidly. Nor is it just the number of disorders that has increased: the associated clinical phenotypes have also expanded spectacularly, primarily due to the advances of next generation sequencing diagnostics. In contrast to the "classical" inborn errors of metabolism in catabolic pathways, in which elevated levels of metabolites are easily detected in body fluids, synthesis defects present with low values of metabolites or, confusingly, even completely normal levels of amino acids...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28645677/dry-eye-and-meibomian-gland-dysfunction-with-meibography-in-patients-with-lamellar-ichthyosis
#7
Melis Palamar, Irmak Karaca, Huseyin Onay, Ilgen Ertam, Ayse Yagci
PURPOSE: To evaluate the dry eye findings and Meibomian gland dysfunction as demonstrated with meibography in patients with lamellar ichthyosis. METHODS: Twenty-four eyes of 12 patients with lamellar ichthyosis (Group 1) and twenty-four eyes of 12 healthy individuals (Group 2) were enrolled. Comprehensive eye examination along with corneal and conjunctival fluorescein staining with Oxford scoring, tear film break-up time, Schirmer 1 test, ocular surface disease index (OSDI) score assessment, and evaluation of upper and lower eyelid Meibomian glands using infrared filter of slit-lamp biomicroscope (SL-D701, TOPCON, Tokyo, Japan) were performed...
June 20, 2017: Contact Lens & Anterior Eye: the Journal of the British Contact Lens Association
https://www.readbyqxmd.com/read/28638141/al-mena-a-comprehensive-resource-of-human-genetic-variants-integrating-genomes-and-exomes-from-arab-middle-eastern-and-north-african-populations
#8
Remya Koshy, Anop Ranawat, Vinod Scaria
Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. The integration of data sets from this region would provide insights into the landscape of genetic variants in this region. We integrated genetic variants from multiple data sets systematically, available from this region to create a compendium of over 26 million genetic variations...
June 22, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28623042/corneocyte-lipid-envelope-cle-the-key-structure-for-skin-barrier-function-and-ichthyosis-pathogenesis
#9
REVIEW
Masashi Akiyama
Research on the genetic abnormalities and pathogenetic processes of ichthyoses has progressed remarkably, and many causative genes and molecules have been identified in ichthyoses and ichthyosis syndromes. Most of the genes/molecules causative of ichthyosis are associated with the barrier function of the stratum corneum, and defects in the skin barrier play important roles in the pathogenesis of various ichthyosis phenotypes. It has been elucidated that, of the ichthyosis-causative genes, ABCA12, ALOXE3, ALOX12B, CYP4F22, CERS3, ABHD5, PNPLA1 and ELOVL4 work in the formation of the corneocyte lipid envelope (CLE), a structure that is essential to sound skin barrier function...
June 8, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28604977/-ichthyosis-vulgaris-a-pedigree-with-13-cases
#10
Yaqin Wang, Chenqiu Zhang
No abstract text is available yet for this article.
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28596001/establishing-and-validating-an-ichthyosis-severity-index
#11
Nareh V Marukian, Yanhong Deng, Geliang Gan, Ivy Ren, Wisblaude Thermidor, Brittany G Craiglow, Leonard M Milstone, Keith A Choate
We designed and validated a Visual Index for Ichthyosis Severity (VIIS) for scale and erythema that provides 1) written descriptions of the features characteristic of each level of severity 2) visual standards for 4 body sites, and 3) two distinct standards to account for different types of scale. We tested the VIIS for reliability and reproducibility using two different settings: one that utilized scoring of 60 test photographs by 10 dermatologists, and one with in-person evaluations on 85 subjects by 12 dermatologists at the Foundation for Ichthyosis and Related Skin Types (FIRST) conference...
June 5, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28585294/ichthyosis-fetalis-in-a-cross-bred-lamb
#12
Antonio Carlos Lopes Câmara, Pedro Augusto Cordeiro Borges, Silvano Alves Paiva, Felipe Pierezan, Benito Soto-Blanco
BACKGROUND: Ichthyosis is a dermatological disease characterized by varying degrees of generalized hyperkeratosis and alopecia. Two congenital forms of ichthyosis are recognized in animals: fetalis (IF) and congenita. The disease occurs rarely in cattle, swine, dogs, chickens and a goat; it has not been reported in sheep. HYPOTHESIS/OBJECTIVES: To provide clinical, laboratory and pathological assessments of a case of IF in a cross-bred lamb. ANIMALS: A male cross-bred lamb...
June 5, 2017: Veterinary Dermatology
https://www.readbyqxmd.com/read/28575648/mutations-in-sult2b1-cause-autosomal-recessive-congenital-ichthyosis-in-humans
#13
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/28569792/loss-of-epidermal-ap1-transcription-factor-function-reduces-filaggrin-level-alters-chemokine-expression-and-produces-an-ichthyosis-related-phenotype
#14
Christina A Young, Ellen A Rorke, Gautam Adhikary, Wen Xu, Richard L Eckert
AP1 transcription factors are important controllers of epidermal differentiation. Multiple family members are expressed in the epidermis in a differentiation-dependent manner, where they function to regulate gene expression. To study the role of AP1 factor signaling, TAM67 (dominant-negative c-jun) was inducibly expressed in the suprabasal epidermis. The TAM67-positive epidermis displays keratinocyte hyperproliferation, hyperkeratosis and parakeratosis, delayed differentiation, extensive subdermal vasodilation, nuclear loricrin localization, tail and digit pseudoainhum and reduced filaggrin level...
June 1, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28569788/disease-linked-connexin26-s17f-promotes-volar-skin-abnormalities-and-mild-wound-healing-defects-in-mice
#15
Eric Press, Katanya C Alaga, Kevin Barr, Qing Shao, Felicitas Bosen, Klaus Willecke, Dale W Laird
Several mutant mice have been generated to model connexin (Cx)-linked skin diseases; however, the role of connexins in skin maintenance and during wound healing remains to be fully elucidated. Here we generated a novel, viable, and fertile mouse (Cx26(CK14-S17F/+)) with the keratitis-ichthyosis-deafness mutant (Cx26S17F) driven by the cytokeratin 14 promoter. This mutant mouse mirrors several Cx26-linked human skin pathologies suggesting that the etiology of Cx26-linked skin disease indeed stems from epidermal expression of the Cx26 mutant...
June 1, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28566233/expanding-the-genetic-cause-of-multiple-sulfatase-deficiency-a-novel-sumf1-variant-in-a-patient-displaying-a-severe-late-infantile-form-of-the-disease
#16
Ilona Jaszczuk, Lars Schlotawa, Thomas Dierks, Andreas Ohlenbusch, Dominique Koppenhöfer, Mariusz Babicz, Monika Lejman, Karthikeyan Radhakrishnan, Agnieszka Ługowska
Multiple sulfatase deficiency (MSD) is a rare inherited metabolic disease caused by defective cellular sulfatases. Activity of sulfatases depends on post-translational modification catalyzed by formylglycine-generating enzyme (FGE), encoded by the SUMF1 gene. SUMF1 pathologic variants cause MSD, a syndrome presenting with a complex phenotype. We describe the first Polish patient with MSD caused by a yet undescribed pathologic variant c.337G>A [p.Glu113Lys] (i.e. p.E113K) in heterozygous combination with the known deletion allele c...
May 22, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28562522/a-child-with-ichthyosis-and-liver-failure
#17
Giuseppe Indolfi, Maria Iascone, Giulia Remaschi, Maria Alice Donati, Claudia Nesti, Anna Rubegni, Laura Pezzoli, Anna Maria Buccoliero, Filippo Maria Santorelli, Massimo Resti
No abstract text is available yet for this article.
May 27, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28554884/ichthyosis-linearis-circumflexa-with-bamboo-hair-challenges-in-the-diagnosis-and-management
#18
Tanvi Dev, Marwaha Raman Kumar, Gomathy Sethuraman
A 15-year-old boy had persistent and refractory erythroderma since early childhood. His parents noticed polycyclic skin lesions and hair fragility around the age of 5 years. He was treated by a local untrained practitioner for more than 3 years without any significant improvement, and he developed weight gain, thinning of skin, muscle weakness and growth retardation. He was evaluated in 2015 and found to have iatrogenic Cushing's disease with severe skeletal complications and pituitary-adrenal-gonadal suppression, which persisted despite gradual withdrawal of steroids...
May 28, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28543665/immunohistochemical-evaluation-of-epidermal-proliferation-differentiation-and-melanocytic-density-in-symmetrical-acrokeratoderma
#19
P-P Yang, J Peng, Y-Y Wu, Z Liu, P Sheng, Y Zhou, S-J Li, Y-M Fan
BACKGROUND: Symmetrical acrokeratoderma (SAK) is characterized by brown to black hyperkeratotic patches on acral regions. Although epidermal hyperkeratosis and acanthosis are consistent pathological changes, the nature of epidermal hyperplasia is unknown. AIM: To evaluate epidermal proliferation and differentiation and melanocytic density in skin lesions of SAK. METHODS: Expression of keratin 10 (K10), K14, K16, involucrin, filaggrin, Ki-67, and Melan-A was detected by immunohistochemistry in eight patients with SAK, seven patients with ichthyosis vulgaris (IV) and six healthy controls (HCs)...
May 22, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28543186/clinical-biochemical-and-genetic-aspects-of-sj%C3%A3-gren-larsson-syndrome
#20
REVIEW
Kye Hee Cho, Sung Han Shim, MinYoung Kim
Sjögren-Larsson syndrome (SLS) is caused by an autosomal recessive mutation in ALDH3A2, which encodes the fatty aldehyde dehydrogenase responsible for the metabolism of long-chain aliphatic aldehydes and alcohols. The pathophysiologic accumulation of aldehydes in various organs, including the skin, brain, and eyes, leads to characteristic features of ichthyosis, intellectual disability, spastic di-/quadriplegia, and low visual acuity with photophobia. The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contractures...
May 23, 2017: Clinical Genetics
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