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Ichthyosis

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https://www.readbyqxmd.com/read/28329493/ichthyosis-follicularis-with-alopecia-and-photophobia-syndrome-ifap-a-case-report
#1
Bruno Ferrari, Lucila Morita, Keith Choate, Rong-Hua Hu
IFAP syndrome is a rare autosomal recessive X-linked disease characterized by the triad of alopecia universalis, severe photophobia, and follicular ichthyosis. It is caused by loss of function of the gene MBTPS2. Its severity varies and there are only a few reports in the literature. We present a patient with characteristic clinical features and a mutation not previously reported.
February 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329203/lamellar-ichthyosis-in-sub-saharan-africa-social-stigmatization-and-therapeutic-difficulties
#2
Celestin Ahogo Kouadio, Jacob Enoh, Patrice Gbery Ildevert, Laciné Cissé, Ange Sylvain Allou
No abstract text is available yet for this article.
March 22, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28314226/long-term-follow-up-of-mucous-membrane-grafting-for-cicatricial-ectropion-in-ichthyosis-a-case-report
#3
Hind Manaa Alkatan, Manar A Aljebreen, Adel H Alsuhaibani
INTRODUCTION: Ichthyosis is a group of keratinizing diseases characterized by scaly and dry skin. One of the ocular complications associated with ichthyosis is cicatricial ectropion which often results in exposure keratopathy and eventually corneal scarring. PRESENTATION OF CASE: In this report we are presenting a 21-year-old female who is known to have ichthyosis-related bilateral lower lid cicatricial ectropion, which was managed with Mucous Membrane Grafting (MMG) six years ago...
February 16, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28302098/in-vivo-confocal-microscopy-of-pre-descemet-corneal-dystrophy-associated-with-x-linked-ichthyosis-a-case-report
#4
Hui Shi, Xiao-Feng Qi, Tao-Tao Liu, Qian Hao, Xiao-Hong Li, Ling-Ling Liang, Yi-Miao Wang, Zhi-Hua Cui
BACKGROUND: Pre-Descemet corneal dystrophy (PDCD) is characterized by the presence of numerous, tiny, polymorphic opacities immediately anterior to Descemet membrane, which is a rare form of corneal stromal dystrophy and hard to be diagnosed. In vivo confocal microscopy (IVCM) is a useful tool to examine the minimal lesions of the cornea at the cellular level. In this article, we report a rare case of PDCD associated with X-linked ichthyosis and evaluate IVCM findings. CASE PRESENTATION: We present a 34-year-old male Chinese patient with PDCD associated with X-linked ichthyosis...
March 16, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28295493/case-of-harlequin-ichthyosis-with-a-favorable-outcome-early-treatment-and-novel-differentially-expressed-alternatively-spliced-transcripts-of-the-atp-binding-cassette-subfamily-a-member-12-gene
#5
Ken Washio, Mayuko Sumi, Kaori Nakata, Atsushi Fukunaga, Keiji Yamana, Tsubasa Koda, Ichiro Morioka, Chikako Nishigori, Kiyofumi Yamanishi
Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, with a high mortality rate. Recent advances in neonatal care and the early administration of retinoids have improved the survival rate of HI. Here, we present a case of HI who was successfully treated with early administration of etretinate and showed good prognosis. Next-generation sequencing identified novel mutations of the ATP-binding cassette subfamily A member 12 gene (ABCA12), c.5884+4_+5delAA and c.7239G>A, which caused skipping of exons 39 and 48, respectively...
March 11, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28272663/neu-laxova-syndrome-an-unusual-association-with-kyphosis
#6
Amandeep Kaur, Vijayalaxmi Suranagi, Kamal Patil, Hema Bannur
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28253503/xp22-31-microdeletion-due-to-microhomology-mediated-break-induced-replication-in-a-boy-with-contiguous-gene-deletion-syndrome
#7
Koki Nagai, Hirohito Shima, Miki Kamimura, Junko Kanno, Erina Suzuki, Akira Ishiguro, Satoshi Narumi, Shigeo Kure, Ikuma Fujiwara, Maki Fukami
The Xp22.31 region is characterized by a low frequency of interspersed repeats and a low GC content. Submicroscopic deletions at Xp22.31 involving STS and ANOS1 (alias KAL1) underlie X-linked ichthyosis and Kallmann syndrome, respectively. Of the known microdeletions at Xp22.31, a common approximately 1.5-Mb deletion encompassing STS was ascribed to nonallelic homologous recombination, while 2 ANOS1-containing deletions were attributed to nonhomologous end-joining. However, the genomic bases of other microdeletions within the Xp22...
March 3, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28249031/a-de-novo-variant-in-the-asprv1-gene-in-a-dog-with-ichthyosis
#8
Anina Bauer, Dominik P Waluk, Arnaud Galichet, Katrin Timm, Vidhya Jagannathan, Beyza S Sayar, Dominique J Wiener, Elisabeth Dietschi, Eliane J Müller, Petra Roosje, Monika M Welle, Tosso Leeb
Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key player in the formation of the stratum corneum, the uppermost layer of the epidermis and therefore crucial for barrier function. During terminal differentiation of keratinocytes, the precursor profilaggrin is cleaved by several proteases into filaggrin monomers and eventually processed into free amino acids contributing to the hydration of the cornified layer...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28248318/pnpla1-is-a-transacylase-essential-for-the-generation-of-the-skin-barrier-lipid-%C3%AF-o-acylceramide
#9
Yusuke Ohno, Nozomi Kamiyama, Shota Nakamichi, Akio Kihara
Lipids are the primary components of the skin permeability barrier, which is the body's most powerful defensive mechanism against pathogens. Acylceramide (ω-O-acylceramide) is a specialized lipid essential for skin barrier formation. Here, we identify PNPLA1 as the long-sought gene involved in the final step of acylceramide synthesis, esterification of ω-hydroxyceramide with linoleic acid, by cell-based assays. We show that increasing triglyceride levels by overproduction of the diacylglycerol acyltransferase DGAT2 stimulates acylceramide production, suggesting that triglyceride may act as a linoleic acid donor...
March 1, 2017: Nature Communications
https://www.readbyqxmd.com/read/28248300/pnpla1-has-a-crucial-role-in-skin-barrier-function-by-directing-acylceramide-biosynthesis
#10
Tetsuya Hirabayashi, Tatsuki Anjo, Arisa Kaneko, Yuuya Senoo, Akitaka Shibata, Hiroyuki Takama, Kohei Yokoyama, Yasumasa Nishito, Tomio Ono, Choji Taya, Kazuaki Muramatsu, Kiyoko Fukami, Agustí Muñoz-Garcia, Alan R Brash, Kazutaka Ikeda, Makoto Arita, Masashi Akiyama, Makoto Murakami
Mutations in patatin-like phospholipase domain-containing 1 (PNPLA1) cause autosomal recessive congenital ichthyosis, but the mechanism involved remains unclear. Here we show that PNPLA1, an enzyme expressed in differentiated keratinocytes, plays a crucial role in the biosynthesis of ω-O-acylceramide, a lipid component essential for skin barrier. Global or keratinocyte-specific Pnpla1-deficient neonates die due to epidermal permeability barrier defects with severe transepidermal water loss, decreased intercellular lipid lamellae in the stratum corneum, and aberrant keratinocyte differentiation...
March 1, 2017: Nature Communications
https://www.readbyqxmd.com/read/28235824/a-nonsense-variant-in-the-st14-gene-in-akhal-teke-horses-with-naked-foal-syndrome
#11
Anina Bauer, Theresa Hiemesch, Vidhya Jagannathan, Markus Neuditschko, Iris Bachmann, Stefan Rieder, Sofia Mikko, M Cecilia Penedo, Nadja Tarasova, Martina Vitková, Nicolò Sirtori, Paola Roccabianca, Tosso Leeb, Monika M Welle
Naked foal syndrome (NFS) is a genodermatosis in the Akhal-Teke horse breed. We provide the first scientific description of this phenotype. Affected horses had almost no hair and showed a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 years of age. It is not clear whether a specific pathology caused the premature deaths. NFS is inherited as a monogenic autosomal recessive trait. We mapped the disease causing genetic variant to two segments on chromosomes 7 and 27 in the equine genome...
February 24, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28220562/systemic-allergic-contact-dermatitis-caused-by-methyl-aminolaevulinate-in-a-patient-with-keratosis-ichthyosis-deafness-syndrome
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28165339/mutations-in-sphingosine-1-phosphate-lyase-cause-nephrosis-with-ichthyosis-and-adrenal-insufficiency
#19
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...
March 1, 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
#20
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
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