keyword
MENU ▼
Read by QxMD icon Read
search

Ichthyosis

keyword
https://www.readbyqxmd.com/read/27905021/netherton-syndrome-a-genotype-phenotype-review
#1
REVIEW
Constantina A Sarri, Angeliki Roussaki-Schulze, Yiannis Vasilopoulos, Efterpi Zafiriou, Aikaterini Patsatsi, Costas Stamatis, Polyxeni Gidarokosta, Dimitrios Sotiriadis, Theologia Sarafidou, Zissis Mamuris
Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families. However, information regarding these mutations and their association with the pathological Netherton syndrome phenotype is scarce. Herein, we provide an up-to-date overview of 80 different mutations in exonic as well as intronic regions that have been currently identified in 172 homozygous or compound heterozygous patients from 144 families...
November 30, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/27884957/altered-co2-sensitivity-of-connexin26-mutant-hemichannels-in%C3%A2-vitro
#2
Elizabeth de Wolf, Joseph van de Wiel, Jonathan Cook, Nicholas Dale
Connexin26 (Cx26) mutations underlie human pathologies ranging from hearing loss to keratitis ichthyosis deafness (KID) syndrome. Cx26 hemichannels are directly gated by CO2 and contribute to the chemosensory regulation of breathing. The KID syndrome mutation A88V is insensitive to CO2, and has a dominant negative action on the CO2 sensitivity of Cx26(WT) hemichannels, and reduces respiratory drive in humans. We have now examined the effect of further human mutations of Cx26 on its sensitivity to CO2 : Mutated Cx26 subunits, carrying one of A88S, N14K, N14Y, M34T, or V84L, were transiently expressed in HeLa cells...
November 2016: Physiological Reports
https://www.readbyqxmd.com/read/27884779/gene-targeted-next-generation-sequencing-identifies-pnpla1-mutations-in-patients-with-a-phenotypic-spectrum-of-autosomal-recessive-congenital-ichthyosis-the-impact-of-consanguinity
#3
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Sirous Zeinali, Parvin Mansouri, Soheila Sotoudeh, Mohammadreza Barzegar, Javad Mohammadi-Asl, Razieh Karamzadeh, Maryam Abiri, Kevin McCormick, Paolo Fortina, Jouni Uitto
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of ∼80 million people with high prevalence of customary consanguineous marriages, we have developed a gene targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and previously unpublished...
November 21, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27876257/tubular-aggregate-myopathy-with-features-of-stormorken-disease-due-to-a-new-stim1-mutation
#4
Jean-Baptiste Noury, Johann Böhm, Georges Arielle Peche, Lucie Guyant-Marechal, Anne-Laure Bedat-Millet, Léa Chiche, Robert-Yves Carlier, Edoardo Malfatti, Norma B Romero, Tanya Stojkovic
STIM1 is a reticular Ca(2+) sensor composed of a luminal and a cytosolic domain. Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic disease associating TAM with asplenia, thrombocytopenia, miosis, ichthyosis, short stature and dyslexia. Here we present the case of a 41-year-old female complaining of exercise intolerance. Clinical examination showed short stature, scoliosis, proximal muscle weakness with lower limb predominance, and ophthalmoplegia...
October 14, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27871086/the-influence-of-two-different-foam-creams-on-skin-barrier-repair-of-foot-xerosis-a-prospective-double-blind-randomised-placebo-controlled-intra-individual-study
#5
Dorothee Daehnhardt, Stephan Daehnhardt-Pfeiffer, Judith Schulte-Walter, Thomas Neubourg, Eckhard Hanisch, Christel Schmetz, Marion Breuer, Regina Fölster-Holst
BACKGROUND/AIMS: Dry skin, or xerosis, is a common condition and a key feature of skin diseases like atopic dermatitis (AD) and ichthyosis vulgaris. Foot xerosis may exist without underlying disease and could be related to very mild forms of AD or ichthyosis vulgaris. The synthesis of important skin lipids (cholesterol, free fatty acids and ceramides) is reduced in xerosis and AD, and reduced lipid synthesis is responsible for a lack of lipids and enzymes in the skin barrier. This slows down reorganisation of the lipid lamellae in the stratum corneum (SC)...
November 22, 2016: Skin Pharmacology and Physiology
https://www.readbyqxmd.com/read/27868147/congenital-ichthyosis-and-recurrent-eczema-associated-witha-a-novel-aloxe3-mutation
#6
Takuya Takeichi, Yusuke Okuno, Chiyo Saito, Daiei Kojima, Michihiro Kono, Akimichi Morita, Kazumitsu Sugiura, Masashi Akiyama
is missing (Short communication).
October 14, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27862069/mutations-in-the-ercc2-xpd-gene-associated-with-severe-fetal-ichthyosis-and-dysmorphic-features
#7
Marguerite Miguet, Julien Thevenon, Vincent Laugel, Mathilde Lefebvre, Aurélie Bourchany, Jean-Baptiste Rivière, Yannis Duffourd, Elise Schaefer, Maria Cristina Antal, Rosalie Abida, Anne-Sophie Weingertner, Valérie Kremer, Pierre Vabres, Fanny Morice-Picard, Marie Gonzales, Dan Lipsker, Sylvie Fraitag, Jean-Louis Mandel, Jamel Chelly, Hélène Dollfus, Laurence Faivre, Christel Thauvin-Robinet, Nadège Calmels, Salima El Chehadeh
No abstract text is available yet for this article.
November 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27824632/ichthyosis-congenita-with-biliary-atresia-a-rare-association
#8
Shrikiran Aroor, Sandeep Kumar, Suneel Mundkur, Katta M Girisha
No abstract text is available yet for this article.
November 7, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27817780/-identification-of-gene-mutation-and-prenatal-diagnosis-in-a-family-with-x-linked-ichthyosis
#9
Ji-Wei Huang, Ning Tang, Wu-Gao Li, Zhe-Tao Li, Shi-Qiang Luo, Jing-Wen Li, Jun Huang, Ti-Zhen Yan
X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities...
November 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27813222/invasive-melanoma-in-a-patient-with-congenital-ichthyosiform-erythroderma
#10
Prajakta Jaju, Roberto A Novoa, Susan M Swetter, Kavita Y Sarin
We describe the case of a 26-year-old woman with a history of congenital ichthyosiform erythroderma (CIE) who initially presented with a stage IIA amelanotic melanoma on her forearm that was surgically excised. We also review the literature on CIE-associated skin cancers and discuss the possible contribution of ichthyosis to the risk of cutaneous malignancies. Our findings emphasize the importance of close lifelong skin cancer screening in individuals with CIE and highlight the unique malignancy risk of these individuals...
November 4, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27793761/alterations-in-epidermal-eicosanoid-metabolism-contribute-to-inflammation-and-impaired-late-differentiation-in-flg-mutated-ad
#11
Stefan Blunder, Ralph Rühl, Verena Moosbrugger-Martinz, Christine Krimmel, Anita Geisler, Huiting Zhu, Debra Crumrine, Peter M Elias, Robert Gruber, Matthias Schmuth, Sandrine Dubrac
Loss-of-function mutations in the filaggrin (FLG) gene cause ichthyosis vulgaris (IV) and represent the major predisposing genetic risk factor for atopic dermatitis (AD). While both conditions are characterized by epidermal barrier impairment, AD also exhibits signs of inflammation. This work was aimed at delineating the role of FLG loss-of-function mutations on eicosanoid metabolism in IV and AD. Using epidermal equivalents (HEEs) generated with keratinocytes isolated from non-lesional skin of patients with FLG wild type AD (WT/WT), FLG-mutated AD (FLG/WT), IV (FLG/FLG) or FLG WT control skin, we assessed the potential autocrine role of epidermal-derived eicosanoids in FLG-associated vs...
October 25, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27769845/calpain-12-function-revealed-through-the-study-of-an-atypical-case-of-autosomal-recessive-congenital-ichthyosis
#12
Ron Bochner, Liat Samuelov, Ofer Sarig, Qiaoli Li, Christopher A Adase, Ofer Isakov, Natalia Malchin, Dan Vodo, Ronna Shayevitch, Alon Peled, Benjamin D Yu, Gilad Fainberg, Emily Warshauer, Noam Adir, Noam Erez, Andrea Gat, Yehonatan Gottlieb, Tova Rogers, Mor Pavlovsky, Ilan Goldberg, Noam Shomron, Aileen Sandilands, Linda E Campbell, Stephanie MacCallum, W H Irwin McLean, Gil Ast, Richard L Gallo, Jouni Uitto, Eli Sprecher
Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.R986W; c.5778+2T>C, p. G1900Mfs*16), a gene known to be associated with 2 forms of ichthyosis, autosomal recessive congenital ichthyosis and harlequin ichthyosis...
October 18, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27761313/comparative-functional-characterization-of-novel-non-syndromic-gjb2-gene-variant-p-gly45arg-and-lethal-syndromic-variant-p-gly45glu
#13
Juan Rodriguez-Paris, Jörg Waldhaus, Jeenal A Gordhandas, Lynn Pique, Iris Schrijver
We characterized a novel GJB2 missense variant, c.133G>A, p.Gly45Arg, and compared it with the only other variant at the same amino acid position of the connexin 26 protein (Cx26) reported to date: c.134G>A, p.Gly45Glu. Whereas both variants are associated with hearing loss and are dominantly inherited, p.Gly45Glu has been implicated in the rare fatal keratitis-ichthyosis-deafness (KID) syndrome, which results in cutaneous infections and septicemia with premature demise in the first year of life. In contrast, p...
2016: PeerJ
https://www.readbyqxmd.com/read/27759688/an-index-case-of-concomitant-tumoral-and-ichthyosiform-mycosis-fungoides-like-presentation-of-chronic-adult-t-cell-leukemia-lymphoma-associated-with-upregulation-of-tox
#14
Giang Huong Nguyen, James Y Wang, Kenneth B Hymes, Cynthia M Magro
Adult T-cell leukemia/lymphoma (ATLL) is a rare and often aggressive lymphoid malignancy known to be associated with human T-cell lymphotropic virus type 1. There are 2 broad categories: acute and chronic. In the acute category, there is a leukemic and a lymphomatous variant, whereas in the designated "chronic" form, there is mild peripheral blood lymphocytosis. The intermediate "smoldering" category is without peripheral blood lymphocytosis with only discernible skin involvement. We present a 68-year-old human T-cell lymphotropic virus type 1 seropositive female with a mild peripheral blood atypical lymphocytosis who had indurated nodules on her hands of 2 years duration and a new scaly ichthyosiform eruption on her lower extremities...
October 12, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27751867/pnpla1-deficiency-in-mice-and-humans-leads-to-a-defect-in-the-synthesis-of-%C3%AF-o-acylceramides
#15
Susanne Grond, Thomas O Eichmann, Sandrine Dubrac, Dagmar Kolb, Matthias Schmuth, Judith Fischer, Debra Crumrine, Peter M Elias, Guenter Haemmerle, Rudolf Zechner, Achim Lass, Franz P W Radner
Mutations in PNPLA1 (Patatin-like phospholipase domain-containing 1) have been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs. So far, the underlying molecular mechanisms are unknown. In this study, we generated and characterized PNPLA1-deficient mice and found that PNPLA1 is crucial for epidermal sphingolipid synthesis. The absence of functional PNPLA1 in mice impaired the generation of omega-O-acylceramides and led to an accumulation of non-esterified omega-hydroxy-ceramides...
October 14, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27742393/epidermal-equivalents-of-filaggrin-null-keratinocytes-do-not-show-impaired-skin-barrier-function
#16
Hanna Niehues, Joost Schalkwijk, Ivonne M J J van Vlijmen-Willems, Diana Rodijk-Olthuis, Michelle M van Rossum, Ewa Wladykowski, Johanna M Brandner, Ellen H J van den Bogaard, Patrick L J M Zeeuwen
We investigated differentiation and barrier properties of epidermal equivalents derived from ichthyosis vulgaris keratinocytes that were homozygous for FLG null mutations. We found no effect on penetration of tracer molecules, compared with filaggrin proficient keratinocytes.
October 11, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27725187/gram-positive-anaerobe-cocci-gpac-are-underrepresented-in-the-microbiome-of-filaggrin-deficient-human-skin
#17
Patrick L J M Zeeuwen, Thomas H A Ederveen, Danique A van der Krieken, Hanna Niehues, Jos Boekhorst, Sanja Kezic, Daniëlle A T Hanssen, Marisol E Otero, Ivonne M J J van Vlijmen-Willems, Diana Rodijk-Olthuis, Denise Falcone, Ellen H J van den Bogaard, Marijke Kamsteeg, Heleen D de Koning, Manon E J Zeeuwen-Franssen, Maurice A M van Steensel, Michiel Kleerebezem, Harro M Timmerman, Sacha A F T van Hijum, Joost Schalkwijk
Mutations in the filaggrin gene, which cause the skin disease ichthyosis vulgaris and are a genetic risk factor for atopic dermatitis, alter the cutaneous microbiome thereby affecting keratinocyte host defense responses following skin barrier disruption.
October 7, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27722766/extensive-post-zygotic-mosaicism-of-krt1-or-krt10-mutation-mimicking-classical-epider-molytic-ichthyosis
#18
Maella Severino-Freire, Nathalie Jonca, Melanie Pichery, Emilie Tournier, Nicolas Chassaing, Juliette Mazereeuw-Hautier
is missing (short communication).
October 10, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27711218/behavioural-and-psychiatric-phenotypes-in-men-and-boys-with-x-linked-ichthyosis-evidence-from-a-worldwide-online-survey
#19
Sohini Chatterjee, Trevor Humby, William Davies
BACKGROUND: X-linked ichthyosis (XLI) is a rare dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). Preliminary evidence in boys with XLI, and animal model studies, suggests that individuals lacking STS are at increased risk of developmental disorders and associated traits. However, the behavioural profile of children with XLI is poorly-characterised, and the behavioural profile of adults with XLI has not yet been documented at all. MATERIALS AND METHODS: Using an online survey, advertised worldwide, we collected detailed self- or parent-reported information on behaviour in adult (n = 58) and younger (≤18yrs, n = 24) males with XLI for comparison to data from their non-affected brothers, and age/gender-matched previously-published normative data...
2016: PloS One
https://www.readbyqxmd.com/read/27695870/lamellar-ichthyosis-like-eruption-associated-with-ponatinib
#20
Özge Mine Örenay, Funda Tamer, Evren Sarıfakıoğlu, Umran Yıldırım
No abstract text is available yet for this article.
September 2016: Acta Dermatovenerologica Alpina, Panonica, et Adriatica
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"