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Ichthyosis

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https://www.readbyqxmd.com/read/29146216/-nisch-syndrome-a-rare-cause-of-neonatal-cholestasis-a-case-report
#1
S Szepetowski, C Lacoste, S Mallet, B Roquelaure, C Badens, A Fabre
NISCH syndrome is a rare autosomal recessive disease. It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and neonatal sclerosing cholangitis. It is caused by mutations in the CLDN1 gene encoding the claudin-1 protein, which is located at tight junctions. Fifteen cases have been reported to date and three different mutations have been identified. We report on the case of a 2-year-old boy from a consanguineous Moroccan family, presenting with NISCH syndrome and carrying the so-called Moroccan homozygous mutation (c...
November 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29144034/considerations-in-surgical-management-of-a-buschke-lowenstein-tumor-in-netherton-syndrome-a-case-report
#2
Rosalind Ashton, Jamil Moledina, Branavan Sivakumar, Jemima E Mellerio, Anna E Martinez
Netherton syndrome is an autosomal recessive ichthyosis caused by mutations in SPINK5, with the classic triad of linearis circumflexa, trichorrhexis invaginata, and atopy. There are few reports of surgical management in individuals with Netherton syndrome and clinicians may be reluctant to operate for fear of wound-healing complications. This report describes a pediatric case of a Buschke-Lowenstein tumor of the natal cleft in a patient with Netherton syndrome that had failed to respond to medical management...
November 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29136308/author-s-response-to-the-comment-to-compound-heterozygotes-for-filaggrin-gene-mutations-do-not-always-show-severe-atopic-dermatitis
#3
A Sekiya, K Kono, M Akiyama
FLG mutations play a causal role in the development of ichthyosis vulgaris (IV) and are known to be a predisposing factor for atopic dermatitis (AD) in European and Asian populations. However, it remains a matter of debate how loss of function of filaggrin leads to AD. Skin barrier dysfunction due to the loss of structural proteins in the epidermis makes it easy for allergens to invade, and sensitization to the allergens, increases in serum IgE, and dermatitis follow. In addition, loss of filaggrin results in increased pH in the stratum corneum, increased serine protease activity and hyper-activation of cytokine cascades...
November 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29135017/ichthyosis-with-confetti-inherited-from-a-mosaic-father
#4
Kristine A U Pallesen, Ole Clemmensen, Judith Fischer, Jens Michael Hertz, Anette Bygum
No abstract text is available yet for this article.
August 23, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29098103/cochlear-implantation-in-patients-with-keratitis-ichthyosis-deafness-syndrome-a-report-of-two-cases
#5
Birgul Gumus, Armagan Incesulu, Mehmet Ozgur Pinarbasli
Background: Keratitis-ichthyosis-deafness (KID) syndrome is a syndrome which presents with hearing loss and visual and keratinization disorders. In such patients, hearing aids cannot be effectively used in the rehabilitation of hearing loss because of the frequent blockage of the external ear canal with epithelial debris and due to dry and tense skin of the external ear canal. Moreover, severe or profound hearing loss also limits the benefits gained from the conventional hearing aids...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/29094393/quantitative-image-analysis-of%C3%A2-protein-expression-and-colocalization-in-skin-sections
#6
Hanqian Zhang, Maja Ericsson, Marie Virtanen, Simone Weström, Carolina Wählby, Anders Vahlquist, Hans Törmä
Immunofluorescence (IF) and in situ proximity ligation assay (isPLA) are techniques that are used for in situ protein expression and colocalization analysis, respectively. However, an efficient quantitative method to analyze both IF and isPLA staining on skin sections is lacking. Therefore, we developed a new method for semi-automatic quantitative layer-by-layer measurement of protein expression and colocalization in skin sections using the free open-source software CellProfiler. As a proof of principle, IF and isPLA of ichthyosis-related proteins TGm-1 and SDR9C7 were examined...
November 1, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/29093261/-a-case-of-skin-autograft-for-skin-ulcers-in-ichthyosis
#7
Shiwei Li, Xiaodong Yang, Lijun Liu, Xueyang Tang
Ichthyosis refers to a group of skin diseases characterized by abnormal keratinization of the epidermis, resulting in dryness, roughness and scale of the skin. A girl with ichthyosis, who presented with skin ulcers and infection of the right dorsal foot, was admitted to our department. An autologous razor-thin skin grafting procedure was performed to repair the skin ulcers after debridement and vacuum sealing drain. After 8 months of follow-up, both the donor and recipient site healed well and there were no newly formed ulcers or infections...
October 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/29066275/the-spectrum-of-manifestations-in-dsp-desmoplakin-sr6-domain-mutations-immunophenotyping-and-response-to-ustekinumab
#8
Amy S Paller, Tali Czarnowicki, Yael Renert-Yuval, Kristen Holland, Thy Huynh, Muriel Sadlier, Maeve A McAleer, Gary Tran, Gabrielle C Geddes, Alan D Irvine, Emma Guttman-Yassky
BACKGROUND: The immune abnormalities underlying the ichthyoses are poorly understood. OBJECTIVE: To determine the immunophenotype of an ichthyosis resulting from mutations in the spectrin repeat 6 (SR6) domain of DSP, the gene encoding desmoplakin, and to target therapy based on the molecular pathogenesis. METHODS: Immunophenotyping was performed using the blood and skin of a girl with SR6 region DSP mutations causing erythroderma/ichthyosis and cardiomyopathy...
October 21, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29063438/atopic-dermatitis-managing-the-itch
#9
William S Farmer, Kalyani S Marathe
Atopic dermatitis has a substantial impact on sleep, appearance, psychological well-being, and other qualities of life. The visual appearance of lichenification, cheilitis, hyperpigmentation, ichthyosis, and erythema can be socially stigmatizing, and treatment of these symptoms is challenging. In managing pruritus in patients, practitioners should assess and document pruritus through questionnaires at each routine visit. Initially, practitioners should advise patients to employ non-pharmaceutical treatments such as emollients with wet wraps, elimination of triggers, changing scratching habits, and psychological interventions...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29054605/increased-prevalence-of-filaggrin-deficiency-in-51-patients-with-recessive-x-linked-ichthyosis-presenting-for-dermatological-examination
#10
Kira Süßmuth, Robert Gruber, Elke Rodriguez, Heiko Traupe, Susanne Amler, Alberto Sánchez-Guijo, Frederic Valentin, Tatjana Tarinski, Natalia Straub, Dieter Metze, Stefan W Schneider, Ingrid Hausser, Hansjörg Baurecht, Stephan Weidinger, Vinzenz Oji
X-linked ichthyosis (XLI) is a keratinization disorder caused by deficient activity of steroidsulfatase. In contrast, ichthyosis vulgaris is due to semidominant mutations of the filaggrin gene (FLG). In view of phenotypic variations of these ichthyoses we speculated that XLI may be influenced by additional FLG mutations in a significant number of patients. We characterized a group of 51 patients with XLI and systematically analyzed them for additional FLG mutations (R501X, 2282del4, R2447X, S3247X). The study was complemented by morphological analyses...
October 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29051910/cednik-phenotypic-and-molecular-characterization-of-an-additional-patient-and-review-of-the-literature
#11
Tina Hsu, Carrie C Coughlin, Kristin G Monaghan, Elise Fiala, Robert C McKinstry, Alex R Paciorkowski, Marwan Shinawi
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29050444/treatment-of-ichthyosis-vulgaris-with-a-urea-based-emulsion-videodermatoscopy-and-confocal-microscopy-evaluation
#12
Clara Benintende, Simona Boscaglia, Franco Dinotta, Francesco Lacarrubba, Giuseppe Micali
BACKGROUND: Ichthyosis vulgaris is a common disorder of keratinization caused by mutations in the filaggrin gene and clinically characterized by variable degree of xerosis. METHODS: Five patients affected by ichthyosis vulgaris and moderate to severe xerosis of the lower limbs, were treated twice daily for 30 days with an emulsion containing 10% urea, ceramides, and natural moisturizing factors (NMF). Evaluation was performed at baseline and at the end of treatment by clinical examination, Visual Analogue Scale to quantify itch, videodermatoscopy (VD), and reflectance confocal microscopy (RCM)...
December 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29023238/severe-phenotype-of-keratitis-ichthyosis-deafness-syndrome-with-presumed-ocular-surface-squamous-neoplasia
#13
Ana Silvia Serrano-Ahumada, Vianney Cortes-González, Luz María González-Huerta, Sergio Cuevas, Luis Aguilar-Lozano, Cristina Villanueva-Mendoza
PURPOSE: The aim of this study was to describe a case of severe keratitis-ichthyosis-deafness (KID) syndrome with ocular surface squamous neoplasia. METHODS: The affected patient underwent complete ocular and systemic examinations. The molecular studies included polymerase chain reaction amplification and automated DNA sequencing of the complete gap junction beta-2 (GJB2) gene coding sequence. RESULTS: A 30-year-old man presented with generalized erythro-hyperkeratosis and deafness and complaints of decreased visual acuity, tearing, and photophobia...
October 10, 2017: Cornea
https://www.readbyqxmd.com/read/29018324/design-and-characterization-of-a-human-monoclonal-antibody-that-modulates-mutant-connexin-26-hemichannels-implicated-in-deafness-and-skin-disorders
#14
Liang Xu, Andrea Carrer, Francesco Zonta, Zhihu Qu, Peixiang Ma, Sheng Li, Federico Ceriani, Damiano Buratto, Giulia Crispino, Veronica Zorzi, Gaia Ziraldo, Francesca Bruno, Chiara Nardin, Chiara Peres, Flavia Mazzarda, Anna M Salvatore, Marcello Raspa, Ferdinando Scavizzi, Youjun Chu, Sichun Xie, Xuemei Yang, Jun Liao, Xiao Liu, Wei Wang, Shanshan Wang, Guang Yang, Richard A Lerner, Fabio Mammano
Background: Mutations leading to changes in properties, regulation, or expression of connexin-made channels have been implicated in 28 distinct human hereditary diseases. Eight of these result from variants of connexin 26 (Cx26), a protein critically involved in cell-cell signaling in the inner ear and skin. Lack of non-toxic drugs with defined mechanisms of action poses a serious obstacle to therapeutic interventions for diseases caused by mutant connexins. In particular, molecules that specifically modulate connexin hemichannel function without affecting gap junction channels are considered of primary importance for the study of connexin hemichannel role in physiological as well as pathological conditions...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28983987/novel-pnpla1-mutations-in-two-italian-siblings-with-autosomal-recessive-congenital-ichthyosis
#15
LETTER
A Diociaiuti, E Pisaneschi, G Zambruno, A Angioni, A Novelli, R Boldrini, M El Hachem
No abstract text is available yet for this article.
October 6, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28981923/-mutation-analysis-for-a-pedigree-affected-with-keratitis-ichthyosis-deafness-syndrome
#16
Lulu Li, Yuan Li, Wei Lin, Xiuli Zhao
OBJECTIVE: To identify mutation of GJB2 gene and provide genetic counseling for a family affected with keratitis-ichthyosis-deafness (KID) syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples with a standard phenol-chloroform method. PCR and Sanger sequencing were used to analyze potential mutation in the proband. Suspected mutation was verified with a PCR-high-resolution melting (PCR-HRM) method. T-clone sequencing was applied to determine the parental origin of the mutation...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28976107/s1-guidelines-for-the-diagnosis-and-treatment-of-ichthyoses-update
#17
Vinzenz Oji, Marie-Luise Preil, Barbara Kleinow, Geske Wehr, Judith Fischer, Hans Christian Hennies, Ingrid Hausser, Dirk Breitkreutz, Karin Aufenvenne, Karola Stieler, Illiana Tantcheva-Poór, Stefan Weidinger, Steffen Emmert, Henning Hamm, Ana Maria Perusquia-Ortiz, Irina Zaraeva, Anja Diem, Kathrin Giehl, Regina Fölster-Holst, Kirstin Kiekbusch, Peter Höger, Hagen Ott, Heiko Traupe
Ichthyoses are a group of rare genetic skin disorders that pose numerous clinical challenges, in particular with respect to the correct diagnosis and appropriate management. The present update of the German ichthyosis guidelines addresses recent diagnostic advances that have resulted in the Sorèze consensus classification. In this context, we provide an updated diagnostic algorithm, taking into account clinical features as well as the molecular genetic basis of these disorders. Moreover, we highlight current therapeutic approaches such as psychosocial support, balneotherapy, mechanical scale removal, topical therapy, and systemic retinoid therapy...
October 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28973399/trichothiodystrophy-causative-tfiie%C3%AE-mutation-affects-transcription-in-highly-differentiated-tissue
#18
Arjan F Theil, Imke K Mandemaker, Emile van den Akker, Sigrid M A Swagemakers, Anja Raams, Tatjana Wüst, Jurgen A Marteijn, Jacques C Giltay, Richard M Colombijn, Ute Moog, Urania Kotzaeridou, Mehrnaz Ghazvini, Marieke von Lindern, Jan H J Hoeijmakers, Nicolaas G J Jaspers, Peter J van der Spek, Wim Vermeulen
The rare recessive developmental disorder Trichothiodystrophy (TTD) is characterized by brittle hair and nails. Patients also present a variable set of poorly explained additional clinical features, including ichthyosis, impaired intelligence, developmental delay and anemia. About half of TTD patients are photosensitive due to inherited defects in the DNA repair and transcription factor II H (TFIIH). The pathophysiological contributions of unrepaired DNA lesions and impaired transcription have not been dissected yet...
September 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28966260/elucidation-of-the-synthetic-mechanism-of-acylceramide-an-essential-lipid-for-skin-barrier-function
#19
Yusuke Ohno
The primary function of the skin is to act as a permeability barrier that prevents water loss from inside the body and external invasion such as by pathogens, harmful substances, and allergens. Lipids play a critical role in skin barrier formation by forming multi-lamellar structures in the stratum corneum, the outermost cell layer of the epidermis. Ceramide, the backbone of sphingolipids, accounts for more than 50% of the stratum corneum lipids. Acylceramides are epidermis-specific ceramide species essential for skin barrier formation...
2017: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://www.readbyqxmd.com/read/28952335/acitretin-use-in-dermatology
#20
Lyn C Guenther, Rod Kunynetz, Charles W Lynde, R Gary Sibbald, John Toole, Ronald Vender, Catherine Zip
BACKGROUND: Acitretin has been used for the treatment of severe psoriasis for over 20 years. OBJECTIVE: The current project was conceived to optimise patient care by recognising the role acitretin can play in the treatment of patients with psoriasis and those with other disorders of keratinisation. METHODS: A literature review was conducted to explore the role of acitretin and to assess its value for dermatologic disorders other than severe psoriasis...
September 1, 2017: Journal of Cutaneous Medicine and Surgery
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