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PRIMARY HYPERHIDROSIS Prevalence and Impacts for the Individual
PRIMARY HYPERHIDROSIS Prevalence and impacts for the individual Alexander Shayesteh Afshar Department of Public Health and Clinical Medicine Dermatology and Venereology Umeå 2018 Copyright © Alexander Shayesteh Afshar 2018 This work is protected by the Swedish Copyright Legislation (Act 1960:729) Dissertation for PhD ISBN: 978-91-7601-822-4 ISSN: 0346-6612 New Series No 1940 Cover art: “Drop Beads” by Grant Ware and Alexander Shayesteh Afshar Electronic version available at: http://umu.diva-portal.org/ Printed by: Umu Print Service Umeå, Sweden 2018 To Ladan, Gabriel and Isabell In medicine we ought to know the causes of sickness and health. And because health and sickness and their causes are sometimes manifest, and sometimes hidden and not to be comprehended except by the study of symptoms, we must also study the symptoms of health and disease. Avicenna 973-1037 CE Table of contents Abstract ............................................................................................ iii Abbreviations .................................................................................... v Sammanfattning på svenska ............................................................ vi List of papers .................................................................................. vii Introduction ....................................................................................... 1 Sweat ................................................................................................................................. 1 Sweat glands .................................................................................................................... -
Primary Cilia in Energy Balance Signaling and Metabolic Disorder
BMB Rep. 2015; 48(12): 647-654 BMB www.bmbreports.org Reports Invited Mini Review Primary cilia in energy balance signaling and metabolic disorder Hankyu Lee, Jieun Song, Joo Hyun Jung & Hyuk Wan Ko* College of Pharmacy, Dongguk University, Goyang 10326, Korea Energy homeostasis in our body system is maintained by bal- complex, due to many confounding genetics and environ- ancing the intake and expenditure of energy. Excessive accu- mental factors equivocally affecting the progress of the disease. mulation of fat by disrupting the balance system causes over- Moreover, metabolic disorders are interrelated diseases exem- weight and obesity, which are increasingly becoming global plified by the association of obesity with insulin resistance, health concerns. Understanding the pathogenesis of obesity fo- leading to development of type II diabetes (2). Genetic factors cused on studying the genes related to familial types of for obesity are poorly understood, and recent progress by ge- obesity. Recently, a rare human genetic disorder, ciliopathy, nome-wide association studies support the notion of polygenic links the role for genes regulating structure and function of a features of obesity which suggests that multiple genes, tissues cellular organelle, the primary cilium, to metabolic disorder, and pathways contribute to the disease (3, 4). Intriguing subset obesity and type II diabetes. Primary cilia are microtubule of genes associated with obesity cause a dysfunction of pri- based hair-like membranous structures, lacking motility and mary cilia, which results in a rare pleiotropic human disorder functions such as sensing the environmental cues, and trans- called ciliopathy (5, 6). Primary cilia are microtubule based ducing extracellular signals within the cells. -
Research Article
z Available online at http://www.journalcra.com INTERNATIONAL JOURNAL OF CURRENT RESEARCH International Journal of Current Research Vol. 11, Issue, 12, pp.8946-8949, December, 2019 DOI: https://doi.org/10.24941/ijcr.37495.12.2019 ISSN: 0975-833X RESEARCH ARTICLE SKIN: A WINDOW FOR THYROID DISEASE 1Neethu Mary George, 2,*Amruthavalli Potlapati and 3Narendra Gangaiah 1 Resident, Department of Dermatology, Sri Siddhartha Medical College, Karnataka 2Assistant Professor, Department of Dermatology, Sri Siddhartha Medical College, Karnataka 3Professor and HOD, Department of Dermatology, Sri Siddhartha Medical College, Karnataka ARTICLE INFO ABSTRACT Article History: Introduction: Endocrine conditions form a major bulk of those visiting physicians and most of the Received 24th September, 2019 conditions warrant immediate and long term treatment which otherwise can indirectly affect all the Received in revised form organ systems and adversely affect the ‘health’ of a person. Thyroid diseases are one of the most 28th October, 2019 common endocrinological conditions with varying skin and appandageal manifestations. Skin is an Accepted 15th November, 2019 organ that is visible to naked eyes and can at times show certain manifestations which point to an Published online 31st December, 2019 underlying disease. Unless the clinician has high index of suspicion, such conditions can go undetected. Hence it becomes imperative for clinicians and Dermatologists to have an idea about the Key Words: cutaneous manifestations of endocrinological conditions and hence the study assess the skin Hyperthyroid, Hypothyroid, Cutaneous manifestations in recently detected hyper and hypothyroid patients. Objectives: To evaluate the cutaneous, hair and nail findings and associated conditions in acquired thyroid disorders. Manifestations, Pincer Nail. -
Compensation for Occupational Skin Diseases
ORIGINAL ARTICLE http://dx.doi.org/10.3346/jkms.2014.29.S.S52 • J Korean Med Sci 2014; 29: S52-58 Compensation for Occupational Skin Diseases Han-Soo Song1 and Hyun-chul Ryou2 The Korean list of occupational skin diseases was amended in July 2013. The past list was constructed according to the causative agent and the target organ, and the items of that 1 Department of Occupational and Environmental list had not been reviewed for a long period. The revised list was reconstructed to include Medicine, College of Medicine, Chosun University, Gwangju; 2Teo Center of Occupational and diseases classified by the International Classification of Diseases (10th version). Therefore, Environmental Medicine, Changwon, Korea the items of compensable occupational skin diseases in the amended list in Korea comprise contact dermatitis; chemical burns; Stevens-Johnson syndrome; tar-related skin diseases; Received: 19 December 2013 infectious skin diseases; skin injury-induced cellulitis; and skin conditions resulting from Accepted: 2 May 2014 physical factors such as heat, cold, sun exposure, and ionized radiation. This list will be Address for Correspondence: more practical and convenient for physicians and workers because it follows a disease- Han-Soo Song, MD based approach. The revised list is in accordance with the International Labor Organization Department of Occupational and Environmental Medicine, Chosun University Hospital, 365 Pilmun-daero, Dong-gu, list and is refined according to Korean worker’s compensation and the actual occurrence of Gwangju 501-717, Korea occupational skin diseases. However, this revised list does not perfectly reflect the actual Tel: +82.62-220-3689, Fax: +82.62-443-5035 E-mail: [email protected] status of skin diseases because of the few cases of occupational skin diseases, incomplete statistics of skin diseases, and insufficient scientific evidence. -
General Dermatology an Atlas of Diagnosis and Management 2007
An Atlas of Diagnosis and Management GENERAL DERMATOLOGY John SC English, FRCP Department of Dermatology Queen's Medical Centre Nottingham University Hospitals NHS Trust Nottingham, UK CLINICAL PUBLISHING OXFORD Clinical Publishing An imprint of Atlas Medical Publishing Ltd Oxford Centre for Innovation Mill Street, Oxford OX2 0JX, UK tel: +44 1865 811116 fax: +44 1865 251550 email: [email protected] web: www.clinicalpublishing.co.uk Distributed in USA and Canada by: Clinical Publishing 30 Amberwood Parkway Ashland OH 44805 USA tel: 800-247-6553 (toll free within US and Canada) fax: 419-281-6883 email: [email protected] Distributed in UK and Rest of World by: Marston Book Services Ltd PO Box 269 Abingdon Oxon OX14 4YN UK tel: +44 1235 465500 fax: +44 1235 465555 email: [email protected] © Atlas Medical Publishing Ltd 2007 First published 2007 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, without the prior permission in writing of Clinical Publishing or Atlas Medical Publishing Ltd. Although every effort has been made to ensure that all owners of copyright material have been acknowledged in this publication, we would be glad to acknowledge in subsequent reprints or editions any omissions brought to our attention. A catalogue record of this book is available from the British Library ISBN-13 978 1 904392 76 7 Electronic ISBN 978 1 84692 568 9 The publisher makes no representation, express or implied, that the dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up-to-date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. -
European Guideline Chronic Pruritus Final Version
EDF-Guidelines for Chronic Pruritus In cooperation with the European Academy of Dermatology and Venereology (EADV) and the Union Européenne des Médecins Spécialistes (UEMS) E Weisshaar1, JC Szepietowski2, U Darsow3, L Misery4, J Wallengren5, T Mettang6, U Gieler7, T Lotti8, J Lambert9, P Maisel10, M Streit11, M Greaves12, A Carmichael13, E Tschachler14, J Ring3, S Ständer15 University Hospital Heidelberg, Clinical Social Medicine, Environmental and Occupational Dermatology, Germany1, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University, Poland2, Department of Dermatology and Allergy Biederstein, Technical University Munich, Germany3, Department of Dermatology, University Hospital Brest, France4, Department of Dermatology, Lund University, Sweden5, German Clinic for Diagnostics, Nephrology, Wiesbaden, Germany6, Department of Psychosomatic Dermatology, Clinic for Psychosomatic Medicine, University of Giessen, Germany7, Department of Dermatology, University of Florence, Italy8, Department of Dermatology, University of Antwerpen, Belgium9, Department of General Medicine, University Hospital Muenster, Germany10, Department of Dermatology, Kantonsspital Aarau, Switzerland11, Department of Dermatology, St. Thomas Hospital Lambeth, London, UK12, Department of Dermatology, James Cook University Hospital Middlesbrough, UK13, Department of Dermatology, Medical University Vienna, Austria14, Department of Dermatology, Competence Center for Pruritus, University Hospital Muenster, Germany15 Corresponding author: Elke Weisshaar -
Regulatory News
WHO Drug Information Vol. 28, No. 4, 2014 Regulatory news Ebola curative – transfusions of whole blood or blood plasma from recovered patients Update on treatments and vaccines have been scheduled to be conducted in Liberia, in line with WHO technical The Ebola crisis has prompted an guidelines (4). unprecedented cooperation between regulators In September the European Medicines to support WHO and to advise on possible Agency (EMA) established an expert pathways for the development, evaluation and group to review available information approval of medicines to fight Ebola. Progress on Ebola experimental treatments – towards provision of treatments and vaccines is excluding convalescent therapies – and summarized below. invited developers to submit their data (5). In August 2014, a WHO-convened panel Vaccines had agreed unanimously that is ethically On 29–30 September, 70 experts acceptable to use of experimental attended a WHO-convened consultation medicines and vaccines under the on Ebola vaccines. They took stock of the exceptional circumstances of the Ebola many ongoing efforts to rapidly evaluate epidemic (1). In early September, WHO the safety and efficacy of Ebola vaccines convened a consultation on potential for deployment as soon as possible to Ebola therapies and vaccines (2). The critical frontline workers and ultimately to importance of supportive care and populations at risk in mass vaccination community response was stressed in this campaigns. Two candidate vaccines have and subsequent discussions. clinical-grade vials available for safety trials. (6) Treatments In October, WHO convened industry In September, more than 200 experts leaders and key partners to discuss trials from around the world met at WHO and production of Ebola vaccine (7). -
Dyskeratosis Congenita Precision Panel Overview Indications Clinical
Dyskeratosis Congenita Precision Panel Overview Dyskeratosis Congenita (DKC) is a rare, progressive bone marrow failure syndrome characterized by reticulated skin hyperpigmentation, nail dystrophy and oral leukoplakia. Patients usually present with symptoms of skin hyperpigmentation and nail changes during the first decade of life. It is caused by germline mutations in genes regulating telomere maintenance, resulting in very short telomeres. DKC is a genetically heterogeneous with X-linked recessive form being the most common, autosomal dominant and autosomal recessive subtypes based on different patters of inheritance. Early mortality is associated with bone marrow failure, infections, lung and pulmonary complications as well as malignancy. The Igenomix Dyskeratosis Congenita Precision Panel can be used for an accurate and directed diagnosis as well as differential diagnosis of reticulate pigmentary disorders ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. Indications The Igenomix Dyskeratosis Congenita Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms: ‐ Abnormal skin pigmentation (tan-to-gray hyperpigmented or hypopigmented macules and patches) ‐ Nail dystrophy ‐ Skin atrophy and telangiectasia ‐ Alopecia of the skin, eyebrows and eyelashes ‐ Mucosal leukoplakia ‐ Bone marrow failure ‐ Dental manifestations Clinical Utility The clinical utility of this panel is: ‐ The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. 1 ‐ Early initiation of treatment involving a multidisciplinary team in the form of hematopoietic stem cell transplantation as well as medical care to prevent complications and early surveillance of malignancy. -
Pruritus: Scratching the Surface
Pruritus: Scratching the surface Iris Ale, MD Director Allergy Unit, University Hospital Professor of Dermatology Republic University, Uruguay Member of the ICDRG ITCH • defined as an “unpleasant sensation of the skin leading to the desire to scratch” -- Samuel Hafenreffer (1660) • The definition offered by the German physician Samuel Hafenreffer in 1660 has yet to be improved upon. • However, it turns out that itch is, indeed, inseparable from the desire to scratch. Savin JA. How should we define itching? J Am Acad Dermatol. 1998;39(2 Pt 1):268-9. Pruritus • “Scratching is one of nature’s sweetest gratifications, and the one nearest to hand….” -- Michel de Montaigne (1553) “…..But repentance follows too annoyingly close at its heels.” The Essays of Montaigne Itch has been ranked, by scientific and artistic observers alike, among the most distressing physical sensations one can experience: In Dante’s Inferno, falsifiers were punished by “the burning rage / of fierce itching that nothing could relieve” Pruritus and body defence • Pruritus fulfils an essential part of the innate defence mechanism of the body. • Next to pain, itch may serve as an alarm system to remove possibly damaging or harming substances from the skin. • Itch, and the accompanying scratch reflex, evolved in order to protect us from such dangers as malaria, yellow fever, and dengue, transmitted by mosquitoes, typhus-bearing lice, plague-bearing fleas • However, chronic itch lost this function. Chronic Pruritus • Chronic pruritus is a common and distressing symptom, that is associated with a variety of skin conditions and systemic diseases • It usually has a dramatic impact on the quality of life of the affected individuals Chronic Pruritus • Despite being the major symptom associated with skin disease, our understanding of the pathogenesis of most types of itch is limited, and current therapies are often inadequate. -
The Genetics and Clinical Manifestations of Telomere Biology Disorders Sharon A
REVIEW The genetics and clinical manifestations of telomere biology disorders Sharon A. Savage, MD1, and Alison A. Bertuch, MD, PhD2 3 Abstract: Telomere biology disorders are a complex set of illnesses meric sequence is lost with each round of DNA replication. defined by the presence of very short telomeres. Individuals with classic Consequently, telomeres shorten with aging. In peripheral dyskeratosis congenita have the most severe phenotype, characterized blood leukocytes, the cells most extensively studied, the rate 4 by the triad of nail dystrophy, abnormal skin pigmentation, and oral of attrition is greatest during the first year of life. Thereafter, leukoplakia. More significantly, these individuals are at very high risk telomeres shorten more gradually. When the extent of telo- of bone marrow failure, cancer, and pulmonary fibrosis. A mutation in meric DNA loss exceeds a critical threshold, a robust anti- one of six different telomere biology genes can be identified in 50–60% proliferative signal is triggered, leading to cellular senes- of these individuals. DKC1, TERC, TERT, NOP10, and NHP2 encode cence or apoptosis. Thus, telomere attrition is thought to 1 components of telomerase or a telomerase-associated factor and TINF2, contribute to aging phenotypes. 5 a telomeric protein. Progressively shorter telomeres are inherited from With the 1985 discovery of telomerase, the enzyme that ex- generation to generation in autosomal dominant dyskeratosis congenita, tends telomeric nucleotide repeats, there has been rapid progress resulting in disease anticipation. Up to 10% of individuals with apparently both in our understanding of basic telomere biology and the con- acquired aplastic anemia or idiopathic pulmonary fibrosis also have short nection of telomere biology to human disease. -
Copyrighted Material
Part 1 General Dermatology GENERAL DERMATOLOGY COPYRIGHTED MATERIAL Handbook of Dermatology: A Practical Manual, Second Edition. Margaret W. Mann and Daniel L. Popkin. © 2020 John Wiley & Sons Ltd. Published 2020 by John Wiley & Sons Ltd. 0004285348.INDD 1 7/31/2019 6:12:02 PM 0004285348.INDD 2 7/31/2019 6:12:02 PM COMMON WORK-UPS, SIGNS, AND MANAGEMENT Dermatologic Differential Algorithm Courtesy of Dr. Neel Patel 1. Is it a rash or growth? AND MANAGEMENT 2. If it is a rash, is it mainly epidermal, dermal, subcutaneous, or a combination? 3. If the rash is epidermal or a combination, try to define the SIGNS, COMMON WORK-UPS, characteristics of the rash. Is it mainly papulosquamous? Papulopustular? Blistering? After defining the characteristics, then think about causes of that type of rash: CITES MVA PITA: Congenital, Infections, Tumor, Endocrinologic, Solar related, Metabolic, Vascular, Allergic, Psychiatric, Latrogenic, Trauma, Autoimmune. When generating the differential, take the history and location of the rash into account. 4. If the rash is dermal or subcutaneous, then think of cells and substances that infiltrate and associated diseases (histiocytes, lymphocytes, mast cells, neutrophils, metastatic tumors, mucin, amyloid, immunoglobulin, etc.). 5. If the lesion is a growth, is it benign or malignant in appearance? Think of cells in the skin and their associated diseases (keratinocytes, fibroblasts, neurons, adipocytes, melanocytes, histiocytes, pericytes, endothelial cells, smooth muscle cells, follicular cells, sebocytes, eccrine -
Ehealth DSI [Ehdsi V2.2.2-OR] Ehealth DSI – Master Value Set
MTC eHealth DSI [eHDSI v2.2.2-OR] eHealth DSI – Master Value Set Catalogue Responsible : eHDSI Solution Provider PublishDate : Wed Nov 08 16:16:10 CET 2017 © eHealth DSI eHDSI Solution Provider v2.2.2-OR Wed Nov 08 16:16:10 CET 2017 Page 1 of 490 MTC Table of Contents epSOSActiveIngredient 4 epSOSAdministrativeGender 148 epSOSAdverseEventType 149 epSOSAllergenNoDrugs 150 epSOSBloodGroup 155 epSOSBloodPressure 156 epSOSCodeNoMedication 157 epSOSCodeProb 158 epSOSConfidentiality 159 epSOSCountry 160 epSOSDisplayLabel 167 epSOSDocumentCode 170 epSOSDoseForm 171 epSOSHealthcareProfessionalRoles 184 epSOSIllnessesandDisorders 186 epSOSLanguage 448 epSOSMedicalDevices 458 epSOSNullFavor 461 epSOSPackage 462 © eHealth DSI eHDSI Solution Provider v2.2.2-OR Wed Nov 08 16:16:10 CET 2017 Page 2 of 490 MTC epSOSPersonalRelationship 464 epSOSPregnancyInformation 466 epSOSProcedures 467 epSOSReactionAllergy 470 epSOSResolutionOutcome 472 epSOSRoleClass 473 epSOSRouteofAdministration 474 epSOSSections 477 epSOSSeverity 478 epSOSSocialHistory 479 epSOSStatusCode 480 epSOSSubstitutionCode 481 epSOSTelecomAddress 482 epSOSTimingEvent 483 epSOSUnits 484 epSOSUnknownInformation 487 epSOSVaccine 488 © eHealth DSI eHDSI Solution Provider v2.2.2-OR Wed Nov 08 16:16:10 CET 2017 Page 3 of 490 MTC epSOSActiveIngredient epSOSActiveIngredient Value Set ID 1.3.6.1.4.1.12559.11.10.1.3.1.42.24 TRANSLATIONS Code System ID Code System Version Concept Code Description (FSN) 2.16.840.1.113883.6.73 2017-01 A ALIMENTARY TRACT AND METABOLISM 2.16.840.1.113883.6.73 2017-01