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GEN MUTACIÓN SECUENCIA (5’-3’) OLIGONUCLEÓTIDO AMPLICÓN

4.9.2 Discriminación alélica

4.9.2.1 Metodología para la identificación de las mutaciones en los genes

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CHAPTER EIGHT

CONCLUSIONS AND RECOMMENDATIONS 8.1 CONCLUSIONS

Vitiligo is a depigmentary cutaneous disorder in which the skin of the face, trunk, extremities and genitals could be affected. The face is the part of the body mostly affected and the forehead and cheek are the sites of the face where the lesions mostly occur. The lesions on the face, in comparison with the other parts of the body affected, are most bothersome to the patients because they are easily noticed by the patients, their family members and friends.

Patients with vitiligo could also have ocular and auditory disorders due to the loss of pigmentary cells in the eyes and ears. The ocular and auditory disorders could be asymptomatic as was the case in this study and routine screening of the eyes and ears are recommended in patients with vititligo for detection of the occurrence of these disorders or worsening of pre-existing disorder(s). The simulataneous loss of pigmentary cells at both the skin and extracutaneous sites is likely from a pathogenic process affecting these cells which have a common origin from the embryonic ectoderm.

Photochemotherapy of vitiligo with PUVAsol could lead to partial or complete repigmentation of depigmented lesions in affected patients and this modality of treatment should be applied for at least six months to achieve its effect.

Vitiligo reduces the Quality of Life (QOL) of affected persons. The study highlights that patients living with vitiligo who have impaired QOL could have low self esteem with impairment of their daily activities and leisure. It is thus pertinent to identify and manage the psychological challenges that vitiligo patients are faced with.

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1. All patients with vitiligo should be screened for ocular and auditory disorders.

2. Patients living with vitiligo who develop ocular disorders should have regular follow-up visits at the Ophthalmology clinics.

3. Patients living with vitiligo who develop hypoacusis should have regular follow-up visits at the ENT clinics.

4. Efforts should be made by the various stakeholders in the health sector to ensure that patients with vitiligo have access to more effective therapeutic options. Tertiary health facilities and Specialist centres should have phototherapy units and the hospital pharmacies should also have the various drugs used in the management of vitiligo.

5. All patients with vitiligo should be managed by a multidisciplinary team which would consist of a Dermatologist, Ophthalmologist, Otorhinolaryngologist and Psychologist.

This would enhance effective and optimum care for affected patients and ultimately improve their Quality of Life.

REFERENCES

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1. Kyriakis K, Palamaras I, Tsele E, Michailides C Terzoudi S. Case detection rates of vitiligo by gender and age. Int J Dermatol 2009; 48: 328–9

2. Zhang Z, Xu SX, Zhang FY, Yin XY, Yang S et al. The analysis of genetics and associated autoimmune diseases in Chinese vitiligo patients. Arch Dermatol Res 2009;301:167-73.

3. Savin J. The hidden face of dermatology. Clin Exp Dermatol 1993;18:393-5.

4. Papadopoulos L, Bor R, Legg C. Coping with the disfiguring effects of vitiligo: a preliminary investigation into the effects of cognitive-behavioural therapy. Br J Med Psychol 1999; 72(3): 385-96.

5. The World Health Organization Quality of Life assessment (WHOQOL): position paper from the World Health Organization. Soc Sci Med. 1995; 41(10): 1403-9

6. Choi S, Kim DY, Whang SH, Lee JH, Hann SK et al. Quality of Life and psychological adaptation of Korean adolescents with vitiligo. Journal of the European Academy of Dermatology and Venereology; 24(5):524-9

7. Ongenae K, Van Geel N, Naeyaert JM. Evidence for an autoimmune pathogenesis of vitiligo. Pigment Cell Res.2003;16 (2):90-100.

8. Lerner A. On the etiology of vitiligo and gray hair. Am J Med 1971;51:141-7

9. Schallreuter K, Pittelkow M. Defective calcium uptake in keratinocyte cell cultures from vitiliginous skin. Arch Dermatol Res 1988; 280: 137–9

10. Kovacs SO. Vitiligo. J Am Acad Dermatol. 1998;38:647-66

11. Gauthier Y, Cario-Andre M, Taieb A. A critical appraisal of vitiligo etiologic theories.

Is melanocyte loss a melanocytorrhagy? Pigment Cell Res 2003;16:322–32

12. Kitamura R, Tsukamoto K, Harada K, Shimizu ,Shimada S et al. Mechanisms underlying the dysfunction of melanocytes in vitiligo epidermis: role of SCF/KIT protein interactions and the downstream effector, MITF-M. J Pathol 2004;202:463–75.

lxxiv

13. Whitton ME, Ashcroft DM, González U. Therapeutic interventions for vitiligo. J Am Acad Dermatol. 2008;59:713-7.

14. Felsten LM, Alikhan A, Petronic-Rosic V. Vitiligo: a comprehensive overview. Part II: Treatment options and approach to treatment. J Am Acad Dermatol. 2011;65:493-514.

15. Goldman L, Moraites RS, Kitzmiller KW. White spots in biblical times. A background for the dermatologist for participation in discussions of current revisions of the bible.

Arch Dermatol 1966;93:744-53.

16. Fitzpatrick TB. Hypomelanosis. South Med J 1964;57:995-1005 17. Nair BK. Vitiligo- a retrospect. Int J Dermatology 1978;17: 755-7

18. Kruger C, Schallreuter K. A review of the worldwide prevalence of vitiligo in children/adolescents and adults. Int J Dermatol 2012; 51(10): 1206-12.

19. Schallreuter KU, Levenig C, Berger J. Vitiligo and cutaneous melanoma. A case study.

Dermatologica 1991;183: 239–45.

20. Das SK, Majumder PP, Chakraborty R, Majumdar TK, Haldar B Studies on vitiligo. I.

Epidemiological profile in Calcutta, India. Genet Epidemiol 1985; 2: 71–8.

21. Johnson M.T, Roberts J. Skin conditions and related need for medical care among persons 1–74 years. United States, 1971–1974. Vital Health Stat 11 1978; i–iv: 1–72.

22. Behl PN, Bhatia RK. 400 cases of vitiligo: a clinico-therapeutical analysis. Int J Dermatol 1972; 2: 51–6.

23. Abdel-Hafez K, Abdel-Aty MA, Hofny ER. Prevalence of skin diseases in rural areas of Assiut Governorate, Upper Egypt. Int J Dermatol 2003; 42: 887–92.

24. Gibbs S. Skin disease and socioeconomic conditions in rural Africa: Tanzania. Int J Dermatol 1996; 35: 633–9.

25. Yahya H. Change in the pattern of skin diseases in Kaduna, North-Central Nigeria. Int J Dermatol 2007;46(9):936-43

lxxv

26. Onayemi O, Isezuo S.A, Njoku C.H. Prevalence of different skin conditions in an outpatients’ setting in north-western Nigeria. Int J Dermatol 2005;44(1):7-11

27. Onunu AN, Kubeyinje EP. Vitiligo in the Nigerian African: a study of 351 patients in Benin City, Nigeria. Int J Dermatol 2003;42:800-2

28. Nnoruka EN. Skin diseases in south-east Nigeria: a current perspective. Int J Dermatol.

2005; 44(1):29-33

29. Ogunbiyi AO, Daramola OO, Alese OO. Prevalence of skin diseases in Ibadan, Nigeria.

Int J Dermatol. 2004;43(1):31-6.

30. Le Poole C, Boissy RE. Vitiligo. Semin Cutan Med Surg 1997;16:3-14

31. Hann SK, Lee HJ. Segmental vitiligo clinical findings in 208 patients. J Am Acad Dermatol 1996;35:671-4

32. Halder RM. Childhood Vitiligo. Clin Dermatol 1997;15:899-906.

33. Jaigirdar MQ, Alam SM, Maidul AZ. Clinical presentation of vitiligo. Mymensingh Med J 2002;11:79-81.

34. Alkhateeb A ,Fain P, Thody A, Bennett D, Spritz R. Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Research 2003;16:208–14

35. Le Poole IC, Das PK, Van Den Wijngaard RM, Bos JD, Westerhof W. Review of the aetiopathomechanism of vitiligo: a convergence theory. Exp Dermatol 1993; 2(4):143-53.

36. Shwartz RA, Janniger CK. Vitiligo. Cutis 1997;60:239-44

37. Nordlund JJ. The signification of depigmentation. Pigment Cell Res 1992;2:237-41 38. Pegum JS. Vitiligo. Br J Dermatol 1996;134:373

39. Nnoruka EN. Vitiligo: Clinical Associations and Trend in South-East Nigeria. Journal of College of Medicine. 2005; 9(2): 125-8

lxxvi

40. Ayanlowo OA, Olumide YM, Akinkugbe A, Ahamneze N, Otike-Odibi BI et al.

Characteristics of Vitiligo in Lagos, Nigeria. West Africa J. Med. 2009;28:118-21 41. Anaba EL. Vitiligo: Clinical Characteristics and Determinants of Quality of Life of

vitiligo patients attending the Dermatology Clinic of the University College Hospital, Ibadan, NPMCN(dissertation). National Postgraduate Medical College of Nigeria, 2011 42. Mason CP, Gawkrodger DJ. Vitiligo presentation in adults. Clin Exp Dermatol

2005;30:344-5

43. Verma SB. Vitiligo precipitated by striae: a little known entity. J Eur Acad Dermatol Venereol 2009; 23: 357-78

44. Mehta NR, Shah KC, Theodore C, Vyas VP, Patel AB. Epidemiological study of vitiligo in Surat area, South Gujarat. Indian J Med Res 1973;61:145-54

45. Manolache L, Benea V. Stress in patients with alopecia areata and vitiligo.J Eur Acad Dermatol Venereol 2007;21:921–8

46. Hann SK, Chun WH, Park YK. Clinical characteristics of progressive vitiligo. Int J Dermatol 1997;36:353–5

47. Gawkrodger DJ, Ormerod AD, Shaw L, Mauri-Sole I, Whitton M et al. Guideline for the diagnosis and management of vitiligo 2. Br J Dermatol 2008; 159:1051–76

48. Ezzedine K, Lim HW, Suzuki T, Katayama I, Hamzavi I et al on behalf of the VGICC panelists. Pigment Cell Melanoma Res 2012; 5(3): E1- 13

49. Lerner AB. My 60 years in pigmentation. Pigment Cell Res 1999;12:131–44

50. Biswas G, Barbhuiya JN, Biswas MC, Islam MN, Dutta S. Clinical pattern of ocular manifestations in vitiligo. J Indian Med Assoc. 2003; 101(8):478-80

51. Nordlund JJ, Taylor NT, Albert DM, Wagoner MD, Lerner AB. The prevalence of vitiligo and poliosis in patients with uveitis. J Am Acad Dermatol. 1981;4(5): 528-36 52. Albert DM, Wagoner MD, Pruett RC, Nordlund JJ, Lerner AB. Vitiligo and disorders of

the retinal pigment epithelium. Br J Ophthalmol 1983; 67:153–6

lxxvii

53. Wolff D. Melanin in the inner ear. Arch Otolaryngol 1931;14: 195–211

54. Tosti A, Bardazzi F, Tosti G, Monti L. Audiologic abnormalities in cases of vitiligo. J Am Acad Dermatol 1987; 17:230–3

55. Dolatshahi M, Ghazi P, Feizy V, Hemami M.R. Life quality assessment among patients with vitiligo: comparison of married and single patients in Iran. Indian J Dermatol Venereol Leprol 2008;74:700

56. Borimnejad L, Parsa Yekta Z, Nikbakht-Nasrabadi A, Firooz A. Quality of life with vitiligo: comparison of male and female Muslim patients in Iran Gend Med 2006;3:124–30.

57. Augustin M, Gajur AI, Reich C, Rustenbach SJ, Schaefer I. Benefit evaluation in vitiligo treatment: development and validation of a patient-defined outcome questionnaire Dermatology 2008;217:101–6

58. Linthorst Homan MW, Spuls PI, De Korte J, Bos JD, Sprangers MA. The burden of vitiligo: patient characteristics associated with quality of life. J Am Acad Dermatol 2009;61: 411–20

59. Sukan M, Maner F. The problems in sexual functions of vitiligo and chronic urticaria patients. J Sex Marital Ther 2007;33:55–64

60. Mattoo SK, Handa S, Kaur I, Gupta N, Malhotra R. Psychiatric morbidity in vitiligo:

prevalence and correlates in India. J Eur Acad Dermatol Venereol 2002;16:573–8 61. Mattoo SK, Handa S, Kaur I, Gupta N, Malhotra R. Psychiatric morbidity in vitiligo

and psoriasis: a comparative study from India. J Dermatol 2001;28:424–32

62. Olasode OA, George AO. Psychosocial problems in patients with vitiligo in Nigeria.

Sudanese Journal of Dermatology. 2008;5(2):51-8

63. Ongenae K, Van Geel N, De Schepper S, Naeyaert JM. Effect of vitiligo on self-reported health-related quality of life. Br J Dermatol 2005;152:1165–72

lxxviii

64. Alikhan A, Felsten L.M, Daly M, Petronic-Rosic V. Vitiligo: A comprehensive overview : Part I. Introduction, epidemiology, quality of life, diagnosis, differential diagnosis, associations, histopathology, etiology, and work-up. J Am Acad Dermatol.

2011;65(3):473-91

65. Finlay AY, Khan GK. Dermatology Life Quality Index (DLQI) a simple practical measure for routine clinical use. Clin Exp Dermatol 1994; 19:210-6

66. Taieb A and Picardo M .The definition and assessment of vitiligo: a consensus report of the Vitiligo European Task Force. Pigment Cell Res. 20; 27–35

67. Drake LA, Dinehart SM, Farmer ER, Goltz RW, Graham GF et al. Guidelines of care for vitiligo. J Am Acad Dermatol. 1996; 35: 620 - 6

68. WHO Report of the Informal Working Group On Prevention Of Deafness And Hearing Impairment Programme Planning. Geneva, 1991 and Global burden of hearing loss in the year 2000

69. Shikiar R, Bresnahan BW, Stone SP, Thompson C, Koo J et al. Validity and reliability of patient reported outcomes used in psoriasis: results from two randomized clinical trials. Health Qual Life Outcomes 2003;1:53

70. Ekpudu VI. Pattern of alopecia and the effect of alopecia on the quality of life of patients. NPMCN(dissertation). National Postgraduate Medical College of Nigeria, 2008

71. Altraide DD, George IO, Otike- Odibe B.Vitiligo: a hospital-based study in Southern Nigeria http://dx.doi.org/10.4314/phmedj.v4i2.52404. Site visited 07/07/2015

72. Agarwal S, Ojha A, Gupta S. Profile of vitiligo in Kumaun region of Uttarakhand, India. Indian J Dermatol 2014;59:209

73. Ajaiyeoba A, George O. Ophthalmic assessment in Black patients with Vitiligo. J Natl Med Assoc 2005;97: 286-7

lxxix

74. Steel KP, Barkway C. Another role for melanocytes: Their importance for normal stria vascular is development in the mammalian inner ear. Development 1989;107:453-63.

75. Gopal KV, Rao GR, Kumar YH, Rao MV, Vasudev P et al. Vitiligo: A part of a systemic autoimmune process. Indian J Dermatol Venereol Leprol 2007; 73: 162-5.

76. Mahdi P, Rouzbahani M, Amali A, Rezaii Khiabanlu S, Kamali M. Audiological manifestations in Vitiligo patients. Iranian Journal of Otorhinolaryngology 2012; 24:

35-40.

77. Anbar TS, El-Sawy AE, Attia SK, Barakat MT, Moftah NH et al. Effect of PUVA therapy on melanocytes and keratinocytes in non-segmental vitiligo: histopathological, immuno-histochemical and ultrastructural study. Photodermatology, Photoimmunology

& Photomedicine 2012; 28: 17–25.

78. Pathak MA, Fellman JH. Activating and fluorescent wave-lengths of furocoumarins:

psoralens. Nature 1960; 185:382-3.

79. Bouattour H, Chaabouni M. Comparative analytical study of the effects of psoralens in vitiligo. Ann Dermatol Venereol 1978; 105:507-10.

80. Singh S, Khandpur S, Sharma VK, Ramam M. Comparison of efficacy and side-effect profile of oral PUVA vs. oral PUVAsol in the treatment of vitiligo: a 36-week prospective study. J Eur Acad Dermatol Venereol. 2013; 27:1344-51.

81. Bhatnagar A, Kanwar AJ, Parsad D, De D. Comparison of systemic PUVA and NB-UVB in the treatment of vitiligo: An open prospective study. J Eur Acad Dermatol Venereol 2007;21:638-42.

82. Yones SS, Palmer RA, Garibaldinos TM, Hawk JL. Randomized double-blind trial of treatment of vitiligo: Efficacy of psoralen-UV-A therapy vs Narrowband-UV-B therapy.

Arch Dermatol 2007;143:578-84.

lxxx

83. Parsad D, Dogra S, Kanwar AJ. Quality of life in patients with vitiligo.

http://www.hqlo.com/content/1/1/58. site visited 07/07/2015.

84. Silverberg JI, Silverberg NB. Association between Vitiligo extent and distribution and Quality of Life impairment. JAMA Dermatol. 2013;149:159-64.

85. Wong S, Baba R. Quality of life among Malaysian patients with Vitiligo. Int J Dermatol 2012; 51:158-61

APPENDIX 1

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