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https://www.readbyqxmd.com/read/27617465/infantile-epidermolytic-ichthyosis-with-prominent-maternal-palmoplantar-keratoderma
#1
Wallace Austin Smith, Austin Cope, Martin Fernandez, Palak Parekh
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder.  Other manifestations include palmoplantar keratoderma (PPK).  EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic variability is seen in affected individuals based on the genotypic mutation.  We present a mother and her newborn son with EI and prominent PPK in the mother, which also developed in the child at a few months of age...
2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/25851053/-endoscopy-of-the-lacrimal-duct-system-in-children
#2
J Heichel, T Bredehorn-Mayr, H-G Struck
BACKGROUND: Pathologies of the lacrimal duct system show a frequent occurrence in paediatric ophthalmology. Mostly, the connection between the nasolacrimal duct and the nose fails to open but also combined diseases or congenital anomalies may be the reason. Because of complications, the chance for healing after a conservative therapeutic approach decreases and surgical intervention is necessary. PATIENTS AND METHODS: The opportunity for transcanalicular endoscopy of the lacrimal duct system in children is shown by the presentation of three different case reports...
July 2015: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/25395684/prevalence-of-corneal-diseases-in-the-rural-indian-population-the-corneal-opacity-rural-epidemiological-core-study
#3
Noopur Gupta, Praveen Vashist, Radhika Tandon, Sanjeev K Gupta, Sadanand Dwivedi, Kalaivani Mani
OBJECTIVE: The present population-based study was undertaken to estimate the prevalence, determinants and causes of corneal morbidity and blindness in a rural North Indian population. DESIGN: Population-based study in India with 12 899 participants of all ages. METHODS: Participants were recruited from 25 village clusters of district Gurgaon, Haryana, India using random cluster sampling strategy. All individuals were examined in detail with a portable slit lamp for evidence of any corneal disease during the door-to-door examination...
February 2015: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/25172376/short-course-oral-co-trimoxazole-versus-intramuscular-benzathine-benzylpenicillin-for-impetigo-in-a-highly-endemic-region-an-open-label-randomised-controlled-non-inferiority-trial
#4
RANDOMIZED CONTROLLED TRIAL
Asha C Bowen, Steven Y C Tong, Ross M Andrews, Irene M O'Meara, Malcolm I McDonald, Mark D Chatfield, Bart J Currie, Jonathan R Carapetis
BACKGROUND: Impetigo affects more than 110 million children worldwide at any one time. The major burden of disease is in developing and tropical settings where topical antibiotics are impractical and lead to rapid emergence of antimicrobial resistance. Few trials of systemic antibiotics are available to guide management of extensive impetigo. As such, we aimed to compare short-course oral co-trimoxazole with standard treatment with intramuscular benzathine benzylpenicillin in children with impetigo in a highly endemic setting...
December 13, 2014: Lancet
https://www.readbyqxmd.com/read/24846529/bullous-systemic-lupus-erythematosus-in-a-child-responding-to-dapsone
#5
Kwei-Lan Liu, Jui-Lung Shen, Chii-Shuenn Yang, Yi-Ju Chen
Bullous systemic lupus erythematosus is a subepidermal blistering disorder that primarily affects young women and only rarely occurs in children. We report a case of bullous systemic lupus erythematosus refractory to corticosteroid therapy in a 12-year-old boy who was successfully treated with oral dapsone.
July 2014: Pediatric Dermatology
https://www.readbyqxmd.com/read/24736218/-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-retrospective-study-of-185-cases-in-abidjan-c%C3%A3-te-d-ivoire
#6
S Kourouma, A Sangaré, M Kaloga, I Kouassi, E Ecra, I Gbery, C Ahogo, A Kouassi, K Kassi, B Camara
BACKGROUND: Cutaneous bullous adverse drug eruptions are a dreaded complication of drug use. OBJECTIVE: The purpose of this study was to document the epidemiological features, outcomes, and causes of these reactions, in particular, Stevens-Johnson syndrome and toxic epidermal necrolysis (Lyell disease), in a teaching hospital in Abidjan (Côte d'Ivoire). PATIENTS AND METHODS: A retrospective study reviewed the records of severe cutaneous drug reactions in patients managed in the dermatology department of the University Hospital of Treichville (Abidjan) over a period of ten years (from September 2000 through August 2010)...
January 2014: Médecine et Santé Tropicales
https://www.readbyqxmd.com/read/24628803/early-onset-of-chanarin-dorfman-syndrome-with-severe-liver-involvement-in-a-patient-with-a-complex-rearrangement-of-abhd5-promoter
#7
Sara Missaglia, Eugenia Ribeiro Valadares, Laura Moro, Eleonora Druve Tavares Faguntes, Raquel Quintão Roque, Bruno Giardina, Daniela Tavian
BACKGROUND: α/β-hydrolase domain-containing protein 5 (ABHD5) plays an important role in the triacylglycerols (TAG) hydrolysis. Indeed, ABHD5 is the co-activator of adipose triglyceride lipase (ATGL), that catalyses the initial step of TAG hydrolysis. Mutations in ABHD5 gene are associated with the onset of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive lipid storage disorder, characterized by non-bullous congenital ichthyosiform erythroderma (NCIE), hepatomegaly and liver steatosis...
2014: BMC Medical Genetics
https://www.readbyqxmd.com/read/24528149/a-rare-case-of-bullous-mastocytosis-in-a-child-associated-with-bathing-trunk-nevus
#8
Rajesh Verma, Biju Vasudevan, Pragasam Vijendran, Debdeep Mitra
No abstract text is available yet for this article.
June 2014: International Journal of Dermatology
https://www.readbyqxmd.com/read/24512039/pancytopenia-as-an-early-indicator-for-stevens-johnson-syndrome-complicated-with-hemophagocytic-lymphohistiocytosis-a-case-report
#9
Zhi-Dan Fan, Xiao-Qing Qian, Hai-Guo Yu
BACKGROUND: Stevens-Johnson syndrome (SJS) is a severe skin and mucosal bullous disease. When complicated with Hemophagocytic lymphohistiocytosis (HLH), the condition is especially life-threatening. CASE PRESENTATION: Here we report the case of a 4-year-old boy suffering from SJS with extensive erythema multiforme and bulla. Despite active intervention and supportive care, the boy experienced increased skin lesions and a higher fever. Meanwhile, decreases in white blood cell count and hemoglobin were observed...
2014: BMC Pediatrics
https://www.readbyqxmd.com/read/24491643/a-comparison-of-lamellar-and-penetrating-keratoplasty-outcomes-a-registry-study
#10
COMPARATIVE STUDY
Douglas J Coster, Marie T Lowe, Miriam C Keane, Keryn A Williams
OBJECTIVES: To investigate changing patterns of practice of keratoplasty in Australia, graft survival, visual outcomes, the influence of experience, and the surgeon learning curve for endothelial keratoplasty. DESIGN: Observational, prospective cohort study. PARTICIPANTS: From a long-standing national corneal transplantation register, 13 920 penetrating keratoplasties, 858 deep anterior lamellar keratoplasties (DALKs), and 2287 endokeratoplasties performed between January 1996 and February 2013 were identified...
May 2014: Ophthalmology
https://www.readbyqxmd.com/read/24457452/evolving-indications-for-and-trends-in-keratoplasty-in-british-columbia-canada-from-2002-to-2011-a-10-year-review
#11
Johnson C H Tan, Simon P Holland, Paul J Dubord, Gregory Moloney, Martin McCarthy, Sonia N Yeung
PURPOSE: The aim of this study was to report the evolving indications for keratoplasty and the shift in the type of keratoplasty performed in British Columbia, Canada, over a 10-year period from 2002 to 2011. METHODS: This was a retrospective database review of all the records of corneal transplant tissues at the Eye Bank of British Columbia, Canada, from January 2002 to December 2011. The patient demographics, indications, and types of transplant performed were analyzed...
March 2014: Cornea
https://www.readbyqxmd.com/read/24372990/clinical-predictors-of-autoimmune-and-severe-atopic-disease-in-pediatric-heart-transplant-recipients
#12
Jessica H Mouledoux, Erin L Albers, Zengqi Lu, Benjamin R Saville, Daniel J Moore, Debra A Dodd
Autoimmune and allergic diseases cause morbidity and diminished quality of life in pediatric organ transplant recipients. We hypothesize that younger age at transplantation and immunosuppression regimen play a role in the development of immune-mediated disease following heart transplant. A single institution retrospective review identified all patients undergoing heart transplant at ≤18 yr of age from 1987 to 2010 who survived ≥1 yr. Using medical record and database review, patients were evaluated for development of autoimmune or severe allergic disease...
March 2014: Pediatric Transplantation
https://www.readbyqxmd.com/read/24350009/dystrophic-epidermolysis-bullosa-associated-with-non-syndromic-hypodontia
#13
Sonali Sharma, Sumit Bedi
Epidermolysis bullosa (EB) is a genetic disease associated with fragility and bullous lesions of the skin and mucous membranes. There are various patterns of inheritance and histopathology. The disease is associated with systemic and oral manifestations, among which may be dental decay necessitating oral rehabilitation. The aim of this article is to present the course of the condition in a child with dystrophic EB and also to report an association between EB, hypodontia, and supernumerary teeth which has not been reported earlier in literature...
October 2013: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/24346883/linear-iga-bullous-dermatosis-report-of-an-exuberant-case
#14
Beatriz Cavalcanti de Souza, Nádire Cristina Freire Pontes Fregonesi, Antônio José Tebcherani, Ana Paula Galli Sanchez, Valéria Aoki, Juliana Christien Fernandes
Linear immunoglobulin A dermatosis is a rare autoimmune bullous disease, but the most common autoimmune bullous dermatosis in children. We report a typical exuberant case of linear IgA dermatosis in a ten-month old child, who showed good response to treatment with corticosteroids and dapsone.
November 2013: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/24196774/-onychomadesis-associated-with-mouth-hand-and-foot-disease
#15
Bruno Ferrari, Vanina Taliercio, Lorena Hornos, Paula Luna, María Eugenia Abad, Margarita Larralde
Onychomadesis is the spontaneous, complete shedding of the nail from its proximal side, without pain or inflammation, following nail matrix arrest. This disorder is uncommon in children and it can occur in fingernails, toenails or both. It may be secondary to systemic disorders, Kawasaki disease, bullous dermatoses, drugs, paronychia, stress and radiotherapy. Since 2000, Hand, Foot, and Mouth Disease (HFMD) has been described as a cause of onychomadesis, and has been associated with outbreaks of this condition in different regions of the world...
December 2013: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/24172556/indications-for-keratoplasty-in-nepal-2005-2010
#16
L Bajracharya, R Gurung, E H Demarchis, M Oliva, S Ruit, G Tabin
INTRODUCTION: Corneal disease, especially infective keratitis, is one of the major causes of visual impairment and blindness in developing countries. OBJECTIVE: To find out the current indications for keratoplasty, how these indications have changed over time as well as how they are different from those in other parts of the world. MATERIALS AND METHODS: A retrospective study of a case series of 645 keratoplasty surgeries (589 patients) was conducted at the Tilganga Institute of Ophthalmology from January 2005 to December 2010...
July 2013: Nepalese Journal of Ophthalmology
https://www.readbyqxmd.com/read/24047586/residents-corner-july-2013-dermpath-clinic-differential-diagnosis-in-subepidermal-bullous-diseases
#17
Ana Rita Travassos, Luís Soares-de-Almeida
No abstract text is available yet for this article.
July 2013: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/23951793/characterising-oral-lesions-in-patients-who-presented-with-chronic-vesiculobullous-lesions-during-a-10-year-period
#18
N H Wood, S L Shangase
INTRODUCTION: Vesiculobullous lesions are a subset of lesons with an aetiologic spectrum that ranges from infection to aberrant mmune function. The bulk are chronic immune-mediated or autoimmune diseases in which inappropriate production of antibodies against auto-antigens results in the development of these conditions. METHODS: All departmenta patient records in the ten-year period were reviewed and those indicating a provisional diagnosis of oral chronic immune-mediated lesions were included in the study...
August 2012: SADJ: Journal of the South African Dental Association
https://www.readbyqxmd.com/read/23942413/chronic-bullous-disease-of-childhood
#19
Rashmi Mahajan, Priyank Shah, Sheela Bharani
No abstract text is available yet for this article.
June 8, 2013: Indian Pediatrics
https://www.readbyqxmd.com/read/23904296/clinicopathologic-analysis-of-coxsackievirus-a6-new-variant-induced-widespread-mucocutaneous-bullous-reactions-mimicking-severe-cutaneous-adverse-reactions
#20
Wen-Hung Chung, Shin-Ru Shih, Ching-Fen Chang, Tzou-Yien Lin, Yhu-Chering Huang, Shih-Chen Chang, Ming-Tsan Liu, Yu-Shien Ko, Ming-Chung Deng, Yea-Ling Liau, Lung-Huang Lin, Tou-Hwei Chen, Chih-Hsun Yang, Hsin-Chun Ho, Jheng-Wei Lin, Chun-Wei Lu, Chin-Fang Lu, Shuen-Iu Hung
BACKGROUND: The cutaneous manifestations of human enterovirus (HEV) infection are usually limited, such as hand-foot-mouth disease. By comparison, Stevens-Johnson syndrome (SJS) is a life-threatening severe cutaneous adverse reaction (SCAR), mainly caused by drugs. During the HEV outbreaks in 2010-2012 in Taiwan, we identified 21 patients who developed widespread blistering mucocutaneous reactions without any suspected drug causality. METHODS: We screened possible pathogen(s) for detecting human herpes virus (HHV1-HHV7), HEV, or Mycoplasma pneumoniae infections using throat swab virus cultures, real-time PCR, DNA sequencing, immunochemistry and electron microscopy analyses...
December 15, 2013: Journal of Infectious Diseases
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