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https://www.readbyqxmd.com/read/29023701/identification-of-novel-homozygous-slurp1-mutation-in-a-javanese-family-with-mal-de-meleda
#1
Sunardi Radiono, Zacharias A D Pramono, Glenda G K Oh, Uttam Surana, Syahfori Widiyani, Retno Danarti
BACKGROUND: Mal de Meleda (OMIM# 248300; keratosis palmoplantaris transgrediens) is an autosomal recessive form of palmoplantar keratoderma, clinically characterized by sharp demarcated erythema and hyperkeratosis of the palms and soles that progress with age and extend to the dorsal aspects of the hands and feet. The mal de Meleda is caused by mutations in the SLURP1 gene that encodes secreted lymphocyte antigen 6/urokinase-type plasminogen receptor-related protein 1 (SLURP1). To date no reported cases from Indonesia...
November 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29023238/severe-phenotype-of-keratitis-ichthyosis-deafness-syndrome-with-presumed-ocular-surface-squamous-neoplasia
#2
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/28983467/ultrastructural-changes-during-the-life-cycle-of-mycoplasma-salivarium-in-oral-biopsies-from-patients-with-oral-leukoplakia
#3
Harumi Mizuki, Ryosuke Abe, Toshinari Mikami
Bacteria in genus Mycoplasma spp. are the smallest and simplest form of freely replicating bacteria, with 16 species known to infect humans. In the mouth, M. salivarium is the most frequently identified species. Mycoplasma spp. are parasites with small genomes. Although most of the Mycoplasma spp. that infect humans remain attached to the host cell surface throughout their life cycle, we have previously reported the presence of Mycoplasma salivarium in the epithelial cells of oral leukoplakia and oral lichen planus...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28976126/unilateral-angiokeratoma-of-vulva-a-rare-clinic-entity
#4
Aytekin Tokmak, Demet Kokanalı, Nagihan Özcan Cengaver, Gülçin Yıldırım, Ali I Rfan Güzel, Nafiye Yılmaz
The aim of this study is to present a very rare dermatologic condition of the vulva. Angiokeratoma is a benign dilation of ectatic thin-walled blood vessels and congested capillaries in the superficial dermal layer of skin. It occurs predominantly in men and extremely rare in women. Angiokeratoma presents as single or multiple papular lesions on the vulva with smooth or verrucous surface. These lesions are easily confused with infectious disease, inflammatory lesions, and epithelial tumors. In this report, we presented a 42 year old unmarried woman who was admitted to our clinic with complaints of two papuler lesions of the right labium majus with vaginal discharge, vulvar pruritis, and vulvar edema...
September 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28973166/activated-braf-induces-esophageal-dilation-and-gastric-epithelial-hyperplasia-in-mice
#5
Shin-Ichi Inoue, Shingo Takahara, Takeo Yoshikawa, Tetsuya Niihori, Kazuhiko Yanai, Yoichi Matsubara, Yoko Aoki
Germline mutations in BRAF are a major cause of cardio-facio-cutaneous (CFC) syndrome, which is characterized by heart defects, characteristic craniofacial dysmorphology and dermatologic abnormalities. Patients with CFC syndrome also commonly show gastrointestinal dysfunction, including feeding and swallowing difficulties and gastroesophageal reflux. We have previously found that knock-in mice expressing a Braf Q241R mutation exhibit CFC syndrome-related phenotypes, such as growth retardation, craniofacial dysmorphisms, congenital heart defects and learning deficits...
September 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28966518/therapeutic-efficacy-of-combination-therapy-using-oral-cyclosporine-with-a-dietary-supplement-pantogar%C3%A2-in-twenty-nail-dystrophy
#6
Su Jin Oh, Jeong Eun Kim, Joo Yeon Ko, Young Suck Ro
BACKGROUND: Twenty-nail dystrophy (TND) is an acquired idiopathic disease characterized by dull, thin, lusterless, and fragile nails with fissuring, small regular pits, and excessive longitudinal ridging. Although various treatment modalities have been performed in order to treat TND, the effects of these treatments are controversial. OBJECTIVE: To evaluate the effectiveness of oral cyclosporine in TND. METHODS: A total of 38 patients with TND were treated with combination therapy using oral cyclosporine with a pantothenic acid complex-based dietary supplement (Pantogar®; Merz Pharmaceuticals GmbH, Germany), whereas 44 patients were treated with the pantothenic acid complex-based dietary supplement alone...
October 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28966510/effects-of-vitabridc-12-on-skin-inflammation
#7
Ji Hyun Lee, Yoon-Jae Jeon, Jung Hye Choi, Hae Young Kim, Tae-Yoon Kim
BACKGROUND: VitabridC(12) is newly developed and composed of vitamin C and Vitabrid (lamellar, hydrated zinc oxide). OBJECTIVE: In this study, we aimed to investigate the effects of VitabridC(12) on psoriasis and atopic dermatitis. METHODS: Mice with imiquimod-induced psoriasis or Dermatophagoides farinae-induced atopic dermatitis were applied with VitabridC(12). The effects of VitabridC(12) were evaluated by clinical features, histology, and immunologic features by examining cytokines and chemokines...
October 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28964718/activation-of-transient-receptor-potential-vanilloid-3-regulates-inflammatory-actions-of-human-epidermal-keratinocytes
#8
Attila Gábor Szöllősi, Nikolett Vasas, Ágnes Angyal, Kornél Kistamás, Péter Pál Nánási, Johanna Mihály, Gabriella Béke, Erika Herczeg-Lisztes, Andrea Szegedi, Naoki Kawada, Takashi Yanagida, Takahiro Mori, Lajos Kemény, Tamás Bíró
Transient receptor potential (TRP) ion channels were first characterized on neurons, where they are classically implicated in sensory functions; however, research in recent decades has shown that many of these channels are also expressed on non-neuronal cell types. Emerging findings have highlighted the role of TRP channels in the skin, where they have been shown to be important in numerous cutaneous functions. Of particular interest is TRPV3, which was first described on keratinocytes. Its functional importance was supported when its gain-of-function mutation was linked to Olmsted syndrome, which is characterized by palmoplantar keratoderma, periorifacial hyperkeratosis, diffuse hypotrichosis and alopecia, as well as itch...
September 27, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28963614/efficacy-of-vemurafenib-treatment-in-43-metastatic-melanoma-patients-with-braf-mutation-single-institute-retrospective-analysis-early-real-life-survival-data
#9
Kata Czirbesz, Eszter Gorka, Tímea Balatoni, Gitta Pánczél, Krisztina Melegh, Péter Kovács, András Gézsi, Gabriella Liszkay
BRAF inhibitor vemurafenib achieved improved overall survival over chemotherapy and have been approved by the FDA and EMA for the treatment of BRAF-mutated metastatic melanoma. The aim of our retrospective analysis was to determine the efficacy and safety of vemurafenib therapy for BRAF mutated metastatic melanoma and subsequently to prove the clinical benefit for the studied 43 patients, based on real-life data. From November 2012 to October 2015 we have selected 43 BRAF mutated, metastatic melanoma patients, treated with vemurafenib...
September 29, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28944688/treatment-of-lichen-planopilaris-methotrexate-or-cyclosporine-a-therapy
#10
Emel Bulbul Baskan, Serkan Yazici
BACKGROUND: Because of irreversible outcome of the lichen planopilaris (LPP), systemic therapy should be used in early inflammatory stages of the disease, without allowing the irreversible scar formation and permanent hair loss. OBJECTIVE: We assessed the efficacy and safety of methotrexate (MTX) and cyclosporine A (CsA) in the management of recalcitrant, extensive LPP and compared their efficacy and safety profile. METHODS: We retrospectively analysed the 16 LPP cases treated with either CsA or MTX therapy...
October 11, 2017: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/28935002/spontaneous-development-of-cutaneous-squamous-cell-carcinoma-in-mice-with-cell-specific-deletion-of-inhibitor-of-%C3%AE%C2%BAb-kinase-2
#11
Kelly S Kirkley, Kelly D Walton, Colleen Duncan, Ronald B Tjalkens
The deletion of NFκB in epithelial tissues by using skin-specific promoters can cause both tumor formation and severe inflammatory dermatitis, indicating that this signaling pathway is important for the maintenance of immune homeostasis in epithelial tissues. In the present study, we crossed mice transgenic for loxP-Ikbk2 and human Gfap-cre to selectively delete IKK2 in CNS astrocytes. Unexpectedly, a subset of mice developed severe and progressive skin lesions marked by hyperplasia, hyperkeratosis, dysplasia, inflammation, and neoplasia with a subset of lesions diagnosed as squamous cell carcinoma (SCC)...
October 1, 2017: Comparative Medicine
https://www.readbyqxmd.com/read/28932954/-verrucae-hyperpigmentation-palmar-hyperkeratosis
#12
E Sody, W Sondermann, A Körber
No abstract text is available yet for this article.
September 20, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28920784/treatment-success-in-three-andean-bears-tremarctos-ornatus-with-alopecia-syndrome-using-oclacitinib-maleate-apoquel%C3%A2
#13
Gabby J Drake, Tim Nuttall, Javier López, William Magnone, Antoine Leclerc, Romain Potier, Alexis Lécu, Maëlle Guézénec, Lydia Kolter, Amélie Nicolau, Karin Lemberger, Didier Pin, Sallie B Cosgrove
Andean bear (Tremarctos ornatus) alopecia syndrome (ABAS) commonly affects captive bears, particularly sexually mature females. ABAS is characterized by bilaterally symmetrical predominantly flank alopecia with or without profound pruritus and secondary bacterial and Malassezia infections. There is no effective treatment and severely affected bears have been euthanized. This paper describes the successful management of ABAS in three female Andean bears. Skin biopsies and cytology revealed a mixed dermal inflammatory infiltrate, alopecia, hyperkeratosis, and Malassezia dermatitis...
September 2017: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28920035/anesthesia-management-of-a-patient-with-papillon-lefevre-syndrome-a-case-report
#14
Afshin Iranpour, Ata Mahmoodpoor
INTRODUCTION: Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive trait; it often requires some interventions with general anesthesia because of the accompanied complications. CASE PRESENTATION: We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anesthesia. CONCLUSIONS: There are only a few studies about perioperative management of these patients; however, the anesthesiologists should consider a few important issues during pre-operative and intra-operative management...
February 2017: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/28906089/alopecia-as-unique-clue-to-syphilis-in-a-patient
#15
Laura Atzori, Laura Mantovani, Roberta Satta, Caterina Ferreli
Alopecia is an uncommon manifestation of syphilis, simulating other common forms of hair-loss, but representing a crucial complaint for the patient, who might by converse have not noticed other signs and symptoms of the disease. Esthetic issues undervaluation might prolong illness, and postpone appropriate treatment. A 42-year-old patient, HIV negative, presented with a 2-month history of progressive generalized thinning of the hairs and small non-scarring irregular alopecia patches of the parietal-occipital areas of the scalp...
October 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28905836/rare-ocular-manifestations-in-keratosis-follicularis-darier-white-disease
#16
Savitha H Kanakpur, Divya Upendra Caculo
Keratosis follicularis (Darier's disease) is a rare (1 in 30,000-100,000) genetic autosomal-dominant predominantly dermatological disorder characterized by hyperkeratosis and acantholysis due to a defective calcium transport in the cells. Ocular findings, if present, are very rare in this condition. Here, we are reporting a case of keratosis follicularis (Darier's disease) with ocular manifestations that have not been reported so far to the best of our knowledge.
September 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28895209/focal-hyperkeratosis-overlying-the-palmar-faces-of-interphalangeal-and-metacarpophalangeal-joints-revealing-a-juvenile-dermatomyositis
#17
C Abasq-Thomas, V Devauchelle, S Fraitag, N Jay, G Gourier, A Le Duc Pennec, E Brenaut, L Misery
Dermatomyositis (DM) is an idiopathic inflammatory myopathy characterized by an inflammatory infiltrate primarily affecting the skeletal muscle and skin [1]. It is the commonest of the idiopathic inflammatory myopathies of childhood, comprising 85% of cases. It has an annual incidence estimated to range between 1.9 and 4.1 per million children [2, 3]. This article is protected by copyright. All rights reserved.
September 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28887839/anti-inflammatory-effect-of-astaxanthin-in-phthalic-anhydride-induced-atopic-dermatitis-animal-model
#18
Ju Ho Park, In Jun Yeo, Ji Hye Han, Jeong Won Suh, Hee Pom Lee, Jin Tae Hong
In this study, we investigated anti-dermatitic effects of Astaxanthin (AST) in phthalic anhydride (PA)-induced atopic dermatitis (AD) animal model as well as in vitro model. AD-like lesion was induced by the topical application of 5% PA to the dorsal skin or ear of Hos:HR-1 mouse. After AD induction, 100 μl of 1 mg/ml and 2 mg/ml of AST (10 μg or 20 μg/cm(2) ) was spread on the dorsum of ear or back skin three times a week for four weeks. We evaluated dermatitis severity, histopathological changes and changes in protein expression by Western blotting for inducible nitric oxide synthase (iNOS), cyclooxygenase-2 (COX-2), and nuclear factor-κB (NF-κB) activity...
September 8, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28885351/a-mal-de-meleda-patient-with-severe-flexion-contractures-of-hands-and-feet-a-case-report-in-west-china
#19
Yun Pan, Hengguang Zhao, Aijun Chen, Xin Huang
RATIONALE: Palmoplantar keratoderma (PPK) is a genetically heterogeneous group of skin diseases, which is characterized by erythema and hyperkeratosis. Mal de Meleda (MDM) is a rare type of PPK with an estimated prevalence in the general population of 1 in 100,000. PATIENT CONCERNS: In this study, we report a MDM patient with severe lesion in skin and flexion contractures of fingers and toes. DIAGNOSES: MDM was diagnosed based on clinical manifestations and gene test...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28879639/nitisinone-induced-keratopathy-in-alkaptonuria-a-challenging-diagnosis-despite-clinical-suspicion
#20
Andrew White, Michel C Tchan
Alkaptonuria is a rare disorder of amino acid metabolism that causes premature large joint and spine arthropathy and cardiac valvular disease. It is characterised by elevated levels of homogentisic acid. Nitisinone (NTBC) is a benzoylcyclohexane-1,3-dione that reversibly inhibits the activity of the enzymatic step immediately prior to homogentisate dioxygenase, hence reducing the production of homogentisic acid. Thus it is thought that nitisinone might be a treatment for alkaptonuria. A side effect of NTBC therapy is elevation of plasma tyrosine levels in a manner analogous to tyrosinemia type 2, another related condition which causes a painful palmoplantar hyperkeratosis and eye pathology described as conjunctivitis and herpetic-like corneal ulceration...
September 7, 2017: JIMD Reports
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