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https://www.readbyqxmd.com/read/29346172/apremilast-use-in-a-case-of-cicatricial-ectropion-secondary-to-severe-lamellar-ichthyosis
#1
Jean-Paul J Abboud, Alexander Whittington, Masih Ahmed, Jesse T Himebaugh, Lee A Wiley, Ahmad Haffar, John Nguyen
Ichthyosis is a cutaneous disorder characterized by excessive amounts of dry thickened skin surface scales. Ocular manifestations of ichthyosis include cicatricial ectropion, which may cause exposure keratoconjunctivitis and rarely corneal perforation. Topical emollients, anti-inflammatory ointments, and systemic retinoids have been used to control the disease process, while surgical correction with donor graft has been reserved for severe cases involving corneal exposure. The authors report a case of a Caucasian male with lamellar ichthyosis with severe bilateral upper and lower eyelid cicatricial ectropion and corneal ulceration requiring surgical correction...
January 17, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29341518/harlequin-ichthyosis-a-case-report
#2
C H Ugezu, A Mazumdar, E Dunn, A Das
Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased...
August 8, 2017: Irish Medical Journal
https://www.readbyqxmd.com/read/29341312/recurrent-terbinafine-resistant-trichophyton-rubrum-infection-in-a-child-with-congenital-ichthyosis
#3
Louise Schøsler, Louise Kronborg Andersen, Maiken Cavling Arendrup, Mette Sommerlund
Dermatophytosis in children caused by Trichophyton rubrum is preferably treated with topical or systemic terbinafine. We report the first case of terbinafine resistance in a child with recurrent T. rubrum dermatophytosis and congenital ichthyosiform erythroderma.
January 16, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29334142/severe-ectropion-in-lamellar-ichthyosis-managed-medically-with-oral-acitretin
#4
Manpreet Singh, Manpreet Kaur, Ripanjeet Kaur, Shakeen Singh
Congenital ectropion is commonly associated with lamellar ichthyosis. Severe eyelid ectropion may cause corneal exposure, keratopathy, and permanent corneal scarring. We report a neonate with severe, bilateral, congenital ectropion and eclabium managed using oral retinoids. Both corneas were protected with topical antibiotics and lubricating eyedrops and eye ointments. At 12-month follow-up, the child was doing well, with no ectropion or corneal opacity.
January 15, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29325258/-ichthyosis-uteri-report-of-a-case
#5
Y Y Xiong, Y Xu, Z B Gao, X D Teng
No abstract text is available yet for this article.
January 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29313082/-ichthyosis-uteri-psoriasis-uteri-a%C3%A2-very-rare-disorder
#6
M von Laffert, S Elezkurtaj, J Sehouli, J Barinoff, E Boschetti Grützmacher, R Arsenic, H Bläker
In ichthyosis uteri, the entire endometrium is replaced by squamous, sometimes even keratotic epithelium. The etiology is discussed controversially and not fully understood. However, in most cases a chronic inflammatory stimulus is identified. An association with malignancy is possible. Therefore, adequate consecutive diagnostic procedures, as well as exact macro- and micromorphologic evaluation is mandatory. In this case report we describe this currently rare disorder and review the main literature on this topic...
January 8, 2018: Der Pathologe
https://www.readbyqxmd.com/read/29298786/compound-heterozygous-mutations-with-novel-missense-abca12-mutation-in-harlequin-ichthyosis
#7
Benny Kai Guo Loo, Melissa Jeanne Batilando, Ene Choo Tan, Mark Jean Aan Koh
Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, presenting at birth with distinctive facial features and thick, plate-like scales over the entire body. The abnormal skin barrier predisposes the patient to multiple complications, including dehydration and sepsis. Mortality rates of babies with HI have been greatly reduced since the introduction of systemic retinoid therapy. Mutations in ABCA12 have been found to lead to HI. Most of these mutations are truncation or deletion mutations in the conserved region of the protein, leading to severe loss of ABCA12 function...
January 3, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29290415/-pityriasis-rubra-pilaris
#8
S Quenan, E Laffitte
Pityriasis rubra pilaris is a rare heterogeneous dermatosis associating three clinical signs to different degrees: follicular corneal papules, reddish-orange palmoplantar keratoderma and erythematosquamous lesions that may in some cases be very extensive, interspersed with patches of healthy skin. The aetiology is unclear, and in most cases, the trigger factors consist of trauma or infection, probably in subjects with an existing predisposition. In other cases, the condition is associated with immunological disorders or, in familial cases, genetic keratinisation abnormalities similar to ichthyosis...
December 28, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29277919/recessive-epidermolytic-ichthyosis-results-from-loss-of-keratin-10-expression-regardless-of-the-mutation-location
#9
D Vodo, O Sarig, A Peled, L Samuelov, N Malchin, M Grafi-Cohen, E Sprecher
Epidermolytic ichthyosis (EI) is a rare skin disorder caused by mutations in the genes KRT1 and KRT10, and is usually inherited in an autosomal dominant fashion. Only five recessive mutations causing EI have been described, all of which are located in the central region of the KRT10 gene. In the current study, we aimed to identify the genetic defect underlying EI in a 12-year-old patient. Direct sequencing of the patient's genomic DNA revealed a novel homozygous nonsense mutation residing within the proximal part KRT10 first exon...
December 26, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29249250/-what-s-new-in-pediatric-dermatology
#10
C Chiaverini
The year 2017 in pediatric dermatology was marked by several consensus recommendations and meta analyzes on childhood psoriasis, atopic dermatitis or PHACE syndrome, case series on the role of anti-JAK treatment in adolescent with alopecia areata, sirolimus for vascular malformations, ivermectine for rosacea, inhibitors of MEK for type 1 neurofibromatosis or on the side effects of the oral isotretinoin for acne or propranolol for immature hemangioma. Only few randomized controlled studies have been published on the interest of adalimumab in the treatment of psoriasis or topical sirolimus for angiofibroma in tuberous sclerosis complex for example...
December 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29248929/familial-x-y-translocation-encompassing-arse-in-two-moroccan-siblings-with-sensorineural-deafness
#11
Saadia Amasdl, Wiam Smaili, Abdelhafid Natiq, Amale Hassani, Aziza Sbiti, Aomar Agadr, Damien Sanlaville, Abdelaziz Sefiani
Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed...
December 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29208051/a-novel-mutation-in-st14-at-a-functionally-significant-amino-acid-residue-expands-the-spectrum-of-ichthyosis-hypotrichosis-syndrome
#12
Leila Youssefian, Andrew Touati, Amir Hossein Saeidian, Omid Zargari, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto
BACKGROUND: Mutations in the ST14 gene, encoding the serine protease matriptase, have been associated with ichthyosis-hypotrichosis syndrome (IHS), a Mendelian disorder with skin and hair manifestations which include, in addition to ichthyosis and hypotrichosis, hypohidrosis and follicular atrophoderma. However, the understanding of the specific consequences of mutations in ST14 on the development of this syndrome is incomplete. RESULTS: Using a targeted next-generation sequencing array of 38 ichthyosis-associated genes on a large cohort of 180 ichthyosis patients from a primarily consanguineous background, a previously unreported homozygous p...
December 6, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29194782/acral-lamellar-ichthyosis-expanding-the-phenotype-of-temperature-sensitive-keratinization-disorders
#13
Hiram de Almeida, Cristina Has, Judith Fischer, Ingrid Hausser
Lamellar ichthyosis is a MEDOC (Mendelian disorders of cornification) that belongs to the ARCI group (Autosomal recessive congenital ichthyosis) 1 , characterized by large brownish scaly lesions tightly adherent, with typical involvement of the face, which may lead to ectropion. Mutations in at least 12genes have been described in the ARCI group2 . This article is protected by copyright. All rights reserved.
December 1, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29183715/novel-mutations-and-a-severe-neurological-phenotype-in-sj%C3%A3-gren-larsson-syndrome-patients-from-iran
#14
Ariana Kariminejad, Mohammadreza Barzgar, Bita Bozorgmehr, Elham Keshavarz, Mohamad Hasan Kariminejad, Dana S'Aulis, William B Rizzo
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spasticity and intellectual disability. The disease is caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. We describe 7 Iranian SLS patients from 5 unrelated consanguineous families. Sequencing of ALDH3A2 identified 4 novel mutations, including a 26-bp deletion (c.25_50del), small in-frame deletion (c.370_372del; p.G124del), a termination (p.Q35Ter) and a missense mutation (p.Lys211Glu)...
November 25, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29181214/atypical-presentation-of-sj%C3%A3-gren-larsson-syndrome
#15
D Papathemeli, A Mataftsi, A Patsatsi, D Sotiriadis, M Samouilidou, S Chondromatidou, A Evangeliou
Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29176352/new-science-and-treatment-paradigms-for-atopic-dermatitis
#16
James G Dinulos, Alyssa Trickett, Caroline Crudele
PURPOSE OF THE REVIEW: The prevalence of atopic dermatitis is increasing in industrialized countries for unclear reasons. One theory centers on reduced exposure to microbes during infancy and childhood. Alterations in the epidermal permeability barrier, place certain patients at risk for the immunological dysfunction seen in atopic dermatitis. This review examines current research pertaining to the epidermal permeability barrier, the cutaneous microbiome, and the immunology of atopic dermatitis...
February 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29174370/decreased-skin-barrier-lipid-acylceramide-and-differentiation-dependent-gene-expression-in-ichthyosis-gene-nipal4-knockout-mice
#17
Yuichi Honda, Takuya Kitamura, Tatsuro Naganuma, Takaya Abe, Yusuke Ohno, Takayuki Sassa, Akio Kihara
NIPAL4 is one of the causative genes for autosomal recessive congenital ichthyosis. However, the role of NIPAL4 in skin barrier formation, as well as the molecular mechanism of ichthyosis pathology caused by NIPAL4 mutations, has not yet been determined. Here, we found that Nipal4 knockout (KO) mice exhibited neonatal lethality due to skin barrier defects. Histological analyses revealed several morphological abnormalities in the Nipal4 KO epidermis, including impairment of lipid multilayer structure formation, hyperkeratosis, immature keratohyalin granules, and developed heterochromatin structures...
November 22, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29171394/superficial-epidermolytic-ichthyosis-concomitant-with-atopic-dermatitis
#18
Hiromitsu Shimada, Naoko Takeo, Tomoko Saito-Shono, Kazushi Ishikawa, Takashi Sakai, Mizuki Goto, Yutaka Hatano, Sakuhei Fujiwara, Mitsuhiro Matsuda, Takahiro Hamada, Takekuni Nakama, Takashi Hashimoto, Michihiro Kono, Masashi Akiyama, Yasuo Kitajima
No abstract text is available yet for this article.
November 24, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29159249/visual-impairment-reversal-with-oral-acitretin-therapy-in-keratitis-ichthyosis-deafness-kid-syndrome
#19
Christopher M Wolfe, Alexander Davis, Tarek S Shaath, George F Cohen
No abstract text is available yet for this article.
November 2017: JAAD Case Reports
https://www.readbyqxmd.com/read/29146216/-nisch-syndrome-a-rare-cause-of-neonatal-cholestasis-a-case-report
#20
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
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