Quality of Life and Photodermatoses in People with Albinism in Benin City Nigeria

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Quality of Life and Photodermatoses in People with Albinism in Benin City Nigeria QUALITY OF LIFE AND PHOTODERMATOSES IN PEOPLE WITH ALBINISM IN BENIN CITY NIGERIA DISSERTATION SUBMITTED TO NATIONAL POSTGRADUATE MEDICAL COLLEGE OF NIGERIA IN PARTIAL FULFILMENT OF THE REQUIREMENTS FOR THE FELLOWSHIP IN INTERNAL MEDICINE (SUB-SPECIALTY: DERMATOLOGY) BY DR CYNTHIA ROLI MADUBUKO MB,BS (BENIN) DEPARTMENT OF MEDICINE UNIVERSITY OF BENIN TEACHING HOSPITAL, BENIN CITY, EDO STATE, NIGERIA NOVEMBER, 2016. i DECLARATION I hereby declare that this work is original and no part of it has been presented to any other college for a fellowship dissertation nor has it been submitted elsewhere for publication. Signature.................................... Date........................... Dr. Cynthia Roli Madubuko ii SUPERVISION We the undersigned have supervised the writing of this dissertation and the execution of this study. SIGNATURE: …………………………………… DATE: …………………………………………… YEAR OF FELLOWSHIP: ……………………… DR. B. OKWARA MBBS, FMCP Consultant Physician/ Dermatologist and Venereologist Department of Internal Medicine, University of Benin Teaching Hospital, Benin City, Nigeria. SIGNATURE: …………………………………… DATE: …………………………………………… YEAR OF FELLOWSHIP: ……………………… PROF. A.N. ONUNU MBBS, FWACP, FACP Consultant Physician/ Dermatologist and Venereologist Department of Internal Medicine, University of Benin Teaching Hospital, Benin City, Nigeria. SIGNATURE: …………………………………… DATE: …………………………………………… YEAR OF FELLOWSHIP: ……………………… PROF. E.P KUBEYINJE MBBS, FRCP (London), FWACP Consultant Physician Dermatologist and Venereologist Department of Internal Medicine, University of Benin Teaching Hospital, Benin City, Nigeria. iii CERTIFICATION I certify that this is a part 2 dissertation of the National postgraduate Medical College of Nigeria by Dr. Cynthia Roli Madubuko, of the Department of Internal Medicine, University of Benin Teaching Hospital, Benin City, under the supervision of Prof. A.N Onunu, Prof. E.P. Kubeyinje and Dr. B. Okwara Sign……………………………………. Date.............................................. DR OMUEMU, MBBS, FWACP. Head, Department of Medicine, University of Benin Teaching Hospital, Benin City. iv DEDICATION I humbly dedicate this work to the Almighty God for His exceeding grace in my life. I also dedicate this dissertation to the thousands of people living with albinism in Nigeria today. v ACKNOWLEDGEMENT I wish to acknowledge the efforts of my supervisors, Prof A.N Onunu, Prof E.P Kubeyinje and Dr B. Okwara for creating time out of their busy schedule to ensure that I am properly directed and guided in the course of this study. I also appreciate with profound gratitude the contributions of my teachers, Prof (Mrs) E. Egbagbe, Prof L.I Ojogwu, Prof O.A Ogunrin, Prof E.I Unuigbe, Dr O.Akoria and Dr. B Olowofela. The immense and potent guidance i received from them cannot be overemphasised. Furthermore, I am grateful to my colleagues Dr M.I Agun, Dr I. Akpan, Dr T. Eitokpa, Dr F. Akhemokwe, Dr O. Adejumo and Dr O. Ogundare for all the assistance rendered towards the successful completion of this work. To my loving husband, Dr Kingsley Madubuko who has supported me immensely through this work. Thanks for your love, support and encouragement. To Michelle and David, my beautiful children; you both are gifts from heaven. I am so thankful to my parents, Prof and Dr (Mrs) Kubeyinje, you have been there for me all the way; I love you both. I am grateful to my siblings (Tony, Weyinmi and Itse) for all the ways they have supported me through thick and thin. To my mother-in-law, Mrs V. Madubuko; thanks for all your prayers. To all the patients who freely volunteered for this study and to all the members of the albino foundation Benin chapter who were never too tired to give me a helping hand, may God reward you richly. Finally the ultimate thanks goes to God my strength, anchor and ever present help in time of need. Without His grace and help this work would not have been a reality. vi TABLE OF CONTENTS Title Page i Declaration ii Supervision iii Certification iv Dedication v Acknowledgments vi Table of Contents vii List of Tables viii List of Figures ix List of Abbreviation x Summary 1 CHAPTER ONE 1.0 Introduction 3 CHAPTER TWO 2.0 Literature Review 7 CHAPTER THREE 3.0 Methodology 44 CHAPTER FOUR 4.0 Results 53 CHAPTER FIVE 5.1 Discussion 80 5.2 Conclusion 87 5.3 Limitation 88 5.4 Recommendation 89 REFERENCES 90 Appendix 1 100 Appendix II 107 Appendix III 109 vii LIST OF TABLES Table 1: Demographic Data Table 2: Quality Of Life in the Albino and Control Population Table 3: Specific Types of Photodematoses in Albino and Control Population Table 4: Relationship between Specific Photodermatoses and Quality of Life in Albinos (Adult) Table 5: Relationship between Photodermatoses and Quality of Life in Albinos (Children) Table 6: Specific Photodermatoses and Use of Sunscreen in the Albino Population Table 7: Specific Photodermatoses and Use of Protective Clothing in the Albino Population Table 8: Specific Photodermatoses and use of Sunscreen among the Control Population Table 9: Specific Photodermatoses and use of Protective Clothing among the Control Group Table 10: Relationship between Age-group and Specific Types of Photodermatoses Albino Population Table 11: Relationship between age-group and Photodermatoses viii LIST OF FIGURES Fig. I: Frequency of Sunscreen Use in Albino and Control Population Fig. II: Sunprotection Factor Levels in Sunscreens Used Fig. III: Quality of Life index in Albinos and Control (Children) Fig. IV: Quality of Life index in Albinos and Control (Adult) Fig. V: Prevalence of Photodermatoses Fig. VI: Photodermatoses observed in the Albino Population Fig. VII: Photodermatoses Observed in the Control Population Fig.VIII-XII Pictures of Some Photodermatoses Seen in the Albino Population Fig. XIII Relationship with Photodermatoses and Quality of Life (Adult) Fig. XIV: Relationship between Photodermatoses and Quality of Life (children) Fig. XV: Photodermatoses Albino Population ix LIST OF ABBREVIATION AROA Autosomal Recessive Ocular Albinism AS Angelman Syndrome CDLQI Children's Dermatology Life Quality Index CHS Chediak-Higashi Syndrome DLQI Dermatology Life Quality Index ERG Electroretinography FDA Food and Drug Administration of United States of America GPCRS G Protein-Coupled Receptors GPR143 G Protein Receptor 143 HPS Hermansky-Pudlak Syndrome MLS Microphthalmia and Linear Skin Defects OA Ocular Albinism OA 1 X- Linked Recessive Ocular Albinism OCA Oculocutaneous Albinism OCA-1 Oculocutaneous Albinism type 1 OCA-2 Oculocutaneous Albinism type 2 OCA -3 Oculocutaneous Albinism type 3 OCA-4 Oculocutaneous Albinism type 4 PWS Prader-Willi Syndrome QOL Quality of life SPF Sun Protection Factor SPSS Statistical Package for Social Sciences TRP-1 Tyrosinase Related Protein 1 TRP-2 Tyrosinase Related Protein 2 UBTH University of Benin Teaching Hospital UV light Ultraviolet light x SUMMARY The tropical sunshine is deleterious to the albino skin, predisposing their melanin deficient skin to lentigenes, dermatoheliosis, actinic keratosis and skin cancers from which they may die in early adult life or middle age. Photodermatoses in the albino skin affects the individuals medically, socially and psychologically thus impacting on their quality of life. AIM AND OBJECTIVES The aim of this study was to determine the quality of life among people with albinism in Benin City, Nigeria. The specific objectives were to determine the prevalence of photodermatoses in the albino population, to determine the types of photodermatoses in them, to determine the relationship between the quality of life and photodermatoses and finally the relationship between the use of sun protection methods and the prevalence of photodermatoses in them. METHODOLOGY A descriptive cross sectional study design was utilized after obtaining ethical clearance from the University of Benin Teaching Hospital. A total of seventy three persons living with albinism were utilized for the study after an informed consent had been obtained. Data from all respondents were collected using interviewer administered questionnaires containing five aspects on socio-demographics, use of sun protection methods, history of dermatological problems, physical examination for photodermatoses, and an appropriate dermatology life quality index questionnaire. Data analysis was done using SPSS version 21. A P value of <0.05 was considered statistically significant for chi square and t-tests. RESULTS The mean dermatology life quality index score for the children was 8.67± 5.63 in the albino group and 0.00± 0.00 for the control group (p<0.001). The mean dermatology life quality 1 index in the albino adult population was 8.83±7.43 while that for the adult controls was 0.41±1.94 (p<0.001). The prevalence of photodermatoses in the albino population vs control was 57(78.1%) vs 7(9.6%) [p<0.001].The observed photodermatoses in albino population were solar lentigenes 46(63.0%), photoaging 33(45.2%), actinic keratosis 22(28.6%), sun burn 12(16.3%) and skin cancers 9(12.3%). Amongst the children in the albino group, photoaging and solar lentigenes were associated with an impaired quality of life (p=0.007 and p=0.001 respectively). The adults in the albino population with photoaging, solar lentigenes and cutaneous malignancy had a more impaired quality of life (p< 0.05, <0.01, and <0.05 respectively). Sunburns, photoaging, skin cancers, actinic keratosis and solar lentigenes were more frequently observed in those who did not use sunscreens than in those who did. Sunburns, photoaging, skin cancers, actinic keratosis
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