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https://www.readbyqxmd.com/read/28426906/measuring-the-impact-of-dermatological-conditions-on-family-and-caregivers-a-review-of-dermatology-specific-instruments
#1
REVIEW
F Sampogna, A Y Finlay, S S Salek, P Chernyshov, F J Dalgard, A W M Evers, D Linder, L Manolache, S E Marron, F Poot, S Spillekom-van Koulil, Å Svensson, J C Szepietowski, L Tomas-Aragones, D Abeni
The patient is the centre of a web of relationships and the impact of his/her disease on family members and caregivers must be taken into account. The aim of this study was to identify the specific instruments that measure the impact of a dermatological disease on the quality of life (QoL) of family members, by performing a systematic search of the literature. Fifteen papers were identified, describing the creation and validation of nine instruments. Four of them concerned atopic dermatitis (Dermatitis Family Index, DFI; Parents' Index QoL Atopic Dermatitis, PiQoL-AD; QoL in Primary Caregivers of children with Atopic Dermatitis, QPCAD; Childhood Atopic Dermatits Impact Scale, CADIS), two measured the impact of psoriasis in family members (Psoriasis Family Index, PFI; FamilyPso), one the impact of epidermolysis bullosa (Epidermolysis Bullosa Burden of Disease, EB-BoD), one of ichthyosis (Family Burden Ichthyosis, FBI), and one was generic for dermatological conditions (Family Dermatology Life Quality Index, FDLQI)...
April 20, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#2
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28405559/a-sporadic-case-of-ichthyosis-hystrix-curth-and-macklin-type
#3
Pragya A Nair, Rochit Singhal, Shailee Gandhi, Nilofar Diwan
No abstract text is available yet for this article.
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28403434/expanding-the-genotypic-spectrum-of-bathing-suit-ichthyosis
#4
Nareh V Marukian, Rong-Hua Hu, Brittany G Craiglow, Leonard M Milstone, Jing Zhou, Amy Theos, Hande Kaymakcalan, Deniz A Akkaya, Jouni J Uitto, Hassan Vahidnezhad, Leila Youssefian, Susan J Bayliss, Amy S Paller, Lynn M Boyden, Keith A Choate
Importance: Bathing suit ichthyosis (BSI) is a rare congenital disorder of keratinization characterized by restriction of scale to sites of relatively higher temperature such as the trunk, with cooler areas remaining unaffected. Fewer than 40 cases have been reported in the literature. Bathing suit ichthyosis is caused by recessive, temperature-sensitive mutations in the transglutaminase-1 gene (TGM1). Clear genotype-phenotype correlations have been difficult to establish because several of the same TGM1 mutations have been reported in BSI and other forms of congenital ichthyosis...
April 12, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28369476/pnpla1-defects-in-patients-with-autosomal-recessive-congenital-ichthyosis-and-ko-mice-sustain-pnpla1-irreplaceable-function-in-epidermal-omega-o-acylceramide-synthesis-and-skin-permeability-barrier
#5
Mélanie Pichery, Anne Huchenq, Roger Sandhoff, Maella Severino-Freire, Sarra Zaafouri, Lukáš Opálka, Thierry Levade, Vanessa Soldan, Justine Bertrand-Michel, Emeline Lhuillier, Guy Serre, Annabel Maruani, Juliette Mazereeuw-Hautier, Nathalie Jonca
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of monogenic genodermatoses that encompasses non-syndromic disorders of keratinization. The pathophysiology of ARCI has been linked to a disturbance in epidermal lipid metabolism that impaired the stratum corneum function, leading to permeability barrier defects. Functional characterization of some genes involved in ARCI contributed to the identification of molecular actors involved in epidermal lipid synthesis, transport or processing...
March 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28342182/at-first-sight-or-second-glance-clinical-presentation-of-mosaic-manifestations-of-autosomal-dominant-skin-disorders-a-case-series
#6
Ferdinand Toberer, Rudolf Happle, Roland Schneiderbauer, Ingrid Hausser, Verena Kröhl, Andreas Epple, Ute Moog, Alexander H Enk, Anke S Lonsdorf
BACKGROUND: Several autosomal dominant disorders may manifest in mosaic patterns with cutaneous involvement. Genomic mosaicism results from postzygotic autosomal mutations, giving rise to clonal proliferation of two genetically distinct cell groups, which clinically present as lesions following the lines of Blaschko. OBJECTIVE: To increase the awareness of the clinical variability of mosaic manifestations in autosomal dominant skin disorders in order to avoid delayed diagnosis...
March 25, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28329493/ichthyosis-follicularis-with-alopecia-and-photophobia-syndrome-ifap-a-case-report
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28249031/a-de-novo-variant-in-the-asprv1-gene-in-a-dog-with-ichthyosis
#14
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
#15
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
#16
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
#17
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 have almost no hair and show a mild ichthyosis. So far, all known NFS affected horses died between a few weeks and 3 yr 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...
April 3, 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
#18
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
#19
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
#20
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
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