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Hereditary Ichthyosis !" #$%&'# $(%&) #'# %*+&,*'#'* -#.*&%* --#.# // Dissertation for Degree of Doctor of Philosophy (Faculty of Medicine) in Dermatology and Venereology presented at Uppsala University in 2002 ABSTRACT Gånemo, A. 2002. Hereditary ichthyosis. Causes, Skin Manifestations, Treatments and Quality of Life. Acta Universitatis Upsaliensis. Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 1125. 68 pp Uppsala ISBN 91-554-5246-9 Hereditary ichthyosis is a collective name for many dry and scaly skin disorders ranging in frequency from common to very rare. The main groups are autosomal recessive lamellar ichthyosis, autosomal dominant epidermolytic hyperkeratosis and ichthyosis vulgaris, and x-linked recessive ichthyosis. Anhidrosis, ectropion and keratodermia are common symptoms, especially in lamellar ichthyosis, which is often caused by mutations in the transglutaminase 1 (TGM1) gene. The aim of this work was to study patients with different types of ichthyosis regarding (i) the patho-aetiology (TGM1 and electron microscopy [EM] analysis), (ii) skin signs and symptoms (clinical score and subjective measure of disease activity), (iii) quality of life (questionnaires DLQI, SF-36 and NHP and face-to-face interviews) and (iv) a search for new ways of topical treatment. Patients from Sweden and Estonia with autosomal recessive congenital ichthyosis (n=83) had a broader clinical spectrum than anticipated, but a majority carried TGM1 mutations. Based on DNA analysis and clinical examinations the patients were classified into three groups, which could be further subdivided after EM analysis. Our studies indicate that patients with ichthyosis have reduced quality of life as reflected by DLQI and by some domains of SF- 36, by NHP and the interviews. All the interviewees reported that their skin disease had affected them negatively to varying degrees during their entire lives and that the most problematic period was childhood. All patients with ichthyosis use topical therapy. In a double-blind study creams containing either 5% urea or 20% propylene glycol were found inferior to a cream formulation containing lactic acid 5% and propylene glycol 20% both regarding clinical improvement and thinning of the skin barrier. Improved topical therapy may reduce the need of more toxic, oral drugs. Future studies should elucidate whether this increases the quality of life of ichthyosis patients, especially if combined with more detailed information about the aetiology and inheritance of the diseases. Key words: Ichthyosis, congenital ichthyosis, genodermatoses, skin disease, quality of life, topical treatment, lactic acid, propylene glycol. Agneta Gånemo, Department of Medical Sciences, Section of Dermatology and Venereology, University Hospital, SE-751 85 Uppsala, Sweden © Agneta Gånemo 2002 ISSN 0282-7476 ISBN 91-554-5246-9 Printed in Sweden by Uppsala University, Tryck & Medier, Uppsala 2002 - 2 - To My love Bengt and Malin, Therése, Annah and Mikael DET OKÄNDA de otrampade stigarna, sökandet efter kunskap lockar oss vidare mot nya upptäckter och aha-upplevelser. Om vi finge svar på allt vore mycket så mycket mindre -ja, för vissa vore livet kanske till och med outhärdligt. Gunnel & Kjell Swärd - 3 - PAPERS INCLUDED This doctoral thesis is based on the following papers, which will be referred to by their Roman numerals. Reprints were made with permission from the publisher. I. Gånemo A., Pigg M., Virtanen M., Kukk T., Raudsepp H., Rossman-Ringdahl I., Westermark P., Niemi K-M., Dahl N., Vahlquist A. Autosomal Recessive Congenital Ichthyosis in Sweden and Estonia: Clinical, Ultrastructural and Genetic Findings in 83 patients. Manuscript II. Gånemo A., Sjödén P-O., Johansson E., Vahlquist A., Lindberg M. Health- Related Quality of Life among Patients with Ichthyosis. Submitted to British Journal of Dermatology III. Gånemo A., Lindholm C., Lindberg M., Sjödén P-O., Vahlquist A. Quality of life in adults with congenital ichthyosis: A life-time perspective on an inherited skin disease. Submitted to Journal of Advanced Nursing IV. Gånemo, A., Virtanen, M., Vahlquist, A. Improved topical treatment of lamellar ichthyosis: a double-blind study of four different cream formulations. British Journal of Dermatology 1999: 141, 1027-32 Cover photograph: Ichtyose Nacrée, planche XXXVII. From Alibert J-L; Description des maladies de la peau. - 4 - ABBREVIATIONS AHA Alpha-hydroxy acid ARCI Autosomal recessive congenital ichthyosis BI Bullous ichthyosis CIE Congenital ichthyosiform erythrodermia CIFS Congenital ichthyosis with fine or focal scaling DLQI Dermatology Life Quality Index EHK Epidermolytic hyperkeratosis EM Electron microscopy HI Harlequin ichthyosis HRQoL Health-related quality of life IV Ichthyosis vulgaris KID Keratitis-ichthyosis-deafness LI Lamellar ichthyosis LPE Lactic acid 5%, propylene glycol 20% in Essex cream® LPL Lactic acid 5%, propylene glycol 20% in Locobase cream® NBCI Non-bullous congenital ichthyosis NHP Nottingham Health Profile PL Propylene glycol 20% in Locobase cream® QoL Quality of life SD Standard deviation SF-36 Short Form 36 GH General health PF Physical functioning RP Role- physical RE Role-emotional SF Social functioning BP Bodily pain VT Vitality MH Mental health SLS Sjögren-Larsson syndrome - 5 - TEWL Transepidermal water loss TGM Transglutaminase UL Urea 5% in Locobase cream® VAS Visual analogue scale XRI X-linked recessive ichthyosis - 6 - CONTENTS INTRODUCTION .............................................................................................9 THE SKIN ..................................................................................................9 INHERITED DISORDERS OF KERATINISATION ....................................11 The ichthyoses .....................................................................................12 History ..................................................................................................14 Ichthyosis .....................................................................................14 Treatment – a historical perspective .................................19 Signs and symptoms..........................................................................21 Patho-aetiology....................................................................................22 Histopathology.....................................................................................23 Treatments for ichthyosis................................................................26 QUALITY OF LIFE..........................................................................................28 AIMS.... ........ ........ ..................................................................................................30 MATERIAL AND METHODS..................................................................31 PATIENTS .... ..................................................................................................31 METHODS ..... ..................................................................................................32 Clinical examination .........................................................................32 Photographs .........................................................................................33 Blood analysis .....................................................................................33 Skin biopsy............................................................................................34 Bioengineering techniques .............................................................34 Replica............................................................................................34 Capacitance ..................................................................................34 Transepidermal water loss (TEWL)..................................34 Questionnaires .....................................................................................35 Visual analogue scale .............................................................35 Quality of life instruments.....................................................36 DLQI ......................................................................................36 SF-36......................................................................................36 NHP ........................................................................................37 Interviews......................................................................................37 Data analysis.........................................................................................39 Interview data..............................................................................39 Statistical analysis .....................................................................39 ETHICAL CONSIDERATIONS......................................................................41 RESULTS AND DISCUSSION..................................................................42 STUDY I. ........ ..................................................................................................42 STUDY II ........ ..................................................................................................46 STUDY III ...... ..................................................................................................50 STUDY IV...... ..................................................................................................54 GENERAL CONCLUSIONS AND FUTURE DIRECTIONS ..................................................................................................57
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