keyword
MENU ▼
Read by QxMD icon Read
search

Ichthyosis

keyword
https://www.readbyqxmd.com/read/28645677/dry-eye-and-meibomian-gland-dysfunction-with-meibography-in-patients-with-lamellar-ichthyosis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28533841/-collodion-baby-clinical-aspects-and-role-of-prenatal-diagnosis
#15
Ridha Fatnassi, Nédia Marouen, Houcem Ragmoun, Latifa Marzougui, Sabra Hammami
Collodion baby is a severe form of congenital ichthyosis detected in neonatal period. It often has a characteristic clinical picture. When evolution is not fatal; it often causes dry Ichthyosis. Thanks to molecular biology techniques, prenatal diagnosis can be made since the 10-12 weeks of amenorrhea, allowing genetic counselling. Prognosis depends on several parameters, namely the degree of the initial manifestation, the duration of desquamation, as well as underlying Ichthyosis This rewiew of the literature which aims to clarify the diagnostic aspects and therapeutic treatment as well as the role of the antenatal diagnosis is based on a new observation of a collodion baby born at 34 weeks, of a parturient woman having an index case and of infant deaths occurring in the first day of life...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28532675/a-child-with-epidermolytic-ichthyosis-from-a-parent-with-epidermolytic-nevus-risk-evaluation-of-transmission-from-mosaic-to-germline
#16
Michihiro Kono, Yasushi Suga, Tomohiro Akashi, Yasutomo Ito, Takuya Takeichi, Yoshinao Muro, Masashi Akiyama
No abstract text is available yet for this article.
May 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28526300/embryonic-ap1-transcription-factor-deficiency-causes-a-collodion-baby-like-phenotype
#17
Christina A Young, Richard L Eckert, Gautam Adhikary, Debra Crumrine, Peter M Elias, Miroslav Blumenberg, Ellen A Rorke
AP1 transcription factors are important controllers of gene expression in the epidermis, and altered AP1 factor function can perturb keratinocyte proliferation and differentiation. However, our understanding of how AP1 signaling changes may underlie or exacerbate skin disease is limited. We have shown that inhibiting AP1 factor function in suprabasal adult epidermis leads to reduced filaggrin levels and to a phenotype that resembles the genetic disorder, ichthyosis vulgaris. We now show that inhibiting AP1 factor function during development in embryonic epidermis produces marked phenotypic changes including reduced filaggrin mRNA and protein levels, compromised barrier function, marked ultrastructural change and enhanced dehydration susceptibility that resembles the phenotype observed in the flaky tail mouse, a model for ichthyosis vulgaris...
May 16, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28512419/successful-treatment-of-primary-cutaneous-peripheral-t-cell-lymphoma-presenting-acquired-ichthyosis-with-oral-bexarotene-monotherapy
#18
Kayo Tanita, Taku Fujimura, Yota Sato, Takanori Hidaka, Sadanori Furudate, Yumi Kambayashi, Akira Tsukada, Akira Hashimoto, Setsuya Aiba
Acquired ichthyosis (AI) is a reactive cutaneous manifestation that can be associated with malignant hematological disease, including cutaneous T-cell lymphoma (CTCL). Since it is difficult to distinguish AI from ichthyosiform mycosis fungoides, to select the treatment for CTCL with ichthyosis-like appearance and to evaluate its efficacy is sometimes challenging. In this report, we describe a case of primary cutaneous peripheral T-cell lymphoma not otherwise specified presenting AI successfully treated with oral bexarotene...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28507511/distribution-of-elovl4-in-the-developing-and-adult-mouse-brain
#19
David M Sherry, Blake R Hopiavuori, Megan A Stiles, Negar S Rahman, Kathryn G Ozan, Ferenc Deak, Martin-Paul Agbaga, Robert E Anderson
ELOngation of Very Long chain fatty acids (ELOVL)-4 is essential for the synthesis of very long chain-fatty acids (fatty acids with chain lengths ≥ 28 carbons). The functions of ELOVL4 and its very long-chain fatty acid products are poorly understood at present. However, mutations in ELOVL4 cause neurodevelopmental or neurodegenerative diseases that vary according to the mutation and inheritance pattern. Heterozygous inheritance of different ELOVL4 mutations causes Stargardt-like Macular Dystrophy or Spinocerebellar Ataxia type 34...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28503705/muscle-mri-in-neutral-lipid-storage-disease-nlsd
#20
Matteo Garibaldi, Giorgio Tasca, Jordi Diaz-Manera, Pierfancesco Ottaviani, Francesco Laschena, Donatella Pantoli, Simonetta Gerevini, Chiara Fiorillo, Lorenzo Maggi, Elisabetta Tasca, Adele D'Amico, Olimpia Musumeci, Antonio Toscano, Claudio Bruno, Roberto Massa, Corrado Angelini, Enrico Bertini, Giovanni Antonini, Elena Maria Pennisi
Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). We present the muscle imaging data of 12 patients from the Italian Network for NLSD: ten patients presenting NLSD-M and two patients with NLSD-I. In NLSD-M gluteus minimus, semimembranosus, soleus and gastrocnemius medialis in the lower limbs and infraspinatus in the upper limbs were the most affected muscles...
May 13, 2017: Journal of Neurology
keyword
keyword
36027
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"