Status of Epidermolysis bullosa in Pakistani population
DOI:
https://doi.org/10.31580/pjmls.v4iSpecial%20Is.2038Keywords:
Consanguinity, Dystrophic EB, Epidermolysis bullosa (EB), EB simplex, Junctional EB, Kindler syndrome.Abstract
Epidermolysis bullosa is a group of uncommon genetically inherited illnesses that usually reveal itself in infancy or childhood. It has a number of characteristics, including blister production and significant skin and mucous membrane fragility. Since its introduction in the late 1880s, there have been numerous advancements in the classification of Epidermolysis Bullosa. Based on the location of the target proteins and the severity of blisters, we now define four basic kinds of Epidermolysis Bullosa: Epidermolysis Bullosa simplex, junctional Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa, and Kindler syndrome. This review covers different reported and published cases of Pakistani population. In 20 different families a different type of EB is reported. In which we discuss about clinical symptoms, types of mutation, novel mutation found in Pakistani families and consanguinity. In addition, the lack of advanced techniques of diagnosis is also discussed.
References
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10. Momeni, A., and K. Pieper. "Junctional epidermolysis bullosa: a case report." International journal of paediatric dentistry. 2005; 15(2): 146-150.
11. Oliveira TM, Sakai VT, Candido LA, Silva S, Machado MA. Clinical management for epidermolysis bullosa dystrophica. Journal of Applied Oral Science. 2008 Feb;16(1):81-5.
12. Boeira VL, Souza ES, Rocha BD, Oliveira PD, Oliveira MD, Rêgo VR, Follador I. Inherited epidermolysis bullosa: clinical and therapeutic aspects. Anais brasileiros de dermatologia. 2013;88:185-98.
13. Shinkuma S, McMillan JR, Shimizu H. Ultrastructure and molecular pathogenesis of epidermolysis bullosa. Clinics in dermatology. 2011 Jul 1;29(4):412-9.
14. Mitsuhashi Y, Hashimoto I. Genetic abnormalities and clinical classification of epidermolysis bullosa. Archives of dermatological research. 2003 Apr 1;295(1):S29-33.
15. Bolling MC, Lemmink HH, Jansen GH, Jonkman MF. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. British Journal of Dermatology. 2011 Mar;164(3):637-44.
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17. Almaani N, Liu L, Dopping?Hepenstal PJ, Lovell PA, Lai?Cheong JE, Graham RM, Mellerio JE, McGrath JA. Autosomal dominant junctional epidermolysis bullosa. British Journal of Dermatology. 2009 May;160(5):1094-7.
18. Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. Journal of the American Academy of Dermatology. 2009 Sep 1;61(3):367-84.
19. Lai-Cheong JE, McGrath JA. Kindler syndrome. Dermatologic clinics. 2010 Jan 1;28(1):119-24.
20. Ashton GH, McLean WI, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. Journal of investigative dermatology. 2004 Jan 1;122(1):78-83.
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22. Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Human molecular genetics. 1996 Feb 1;5(2):231-7.
23. Bhinder MA, Arshad MW, Zahoor MY, Shehzad W, Tariq M, Shabbir MI. Junctional epidermolysis bullosa (non-Herlitz type). J Coll Physicians Surg Pak. 2017 May 1;27:308-10.
24. Nazir Z, Attar ZB, Moazam F. Congenital pyloric atresia and epidermolysis bullosa. Journal of the Pakistan Medical Association. 1991;41(10):254.
25. Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. Journal of investigative dermatology. 2005 Jan 1;124(1):111-5.
26. Gupta R, Woodley DT, Chen M. Epidermolysis bullosa acquisita. Clinics in dermatology. 2012 Jan 1;30(1):60-9.
27. Mohammad N, Sohaila A, Hussain AA, Ani S. Epidermolysis Bullosa In The Newborn. Journal of Ayub Medical College Abbottabad. 2016 Mar 10;28(1):186-8.
28. Wright JT. Oral manifestations in the epidermolysis bullosa spectrum. Dermatologic clinics. 2010 Jan;28(1):159.
29. Tosti A, Duque-Estrada B, Murrell DF. Alopecia in epidermolysis bullosa. Dermatologic clinics. 2010 Jan 1;28(1):165-9.
30. Fine JD. Inherited epidermolysis bullosa. Orphanet journal of rare diseases. 2010 Dec;5(1):1-7.
31. Yuen WY, Duipmans JC, Molenbuur B, Herpertz I, Mandema JM, Jonkman MF. Long?term follow?up of patients with Herlitz?type junctional epidermolysis bullosa. British Journal of Dermatology. 2012 Aug;167(2):374-82.
32. Horn HM, Tidman MJ. The clinical spectrum of dystrophic epidermolysis bullosa. British Journal of Dermatology. 2002 Feb;146(2):267-74.
33. Bruckner-Tuderman L. Dystrophic epidermolysis bullosa: pathogenesis and clinical features. Dermatologic clinics. 2010 Jan 1;28(1):107-14.
34. Hussain R, Bittles AH. The prevalence and demographic characteristics of consanguineous marriages in Pakistan. Journal of biosocial science. 1998 Apr;30(2):261-75.
35. Hamamy H. Consanguineous marriages. Journal of community genetics. 2012 Jul;3(3):185-92.
36. McGrath JA, Kivirikko S, Ciatti S, Moss C, Christiano AM, Uitto J. A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. Journal of investigative dermatology. 1996 Apr 1;106(4).
2. Brooks JK, Bare LC, Davidson J, Taylor LS, Wright JT. Junctional epidermolysis bullosa associated with hypoplastic enamel and pervasive failure of tooth eruption: Oral rehabilitation with use of an overdenture. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 2008 Apr 1;105(4):e24-8.
3. Murrell DF. Life with epidermolysis bullosa (EB): Etiology, diagnosis, multidisciplinary care and therapy. Journal of the American Academy of Dermatology. 2009 Dec 1;61(6):1092-3.
4. Kovacs S, Atasie D. EPIDERMOLYSIS BULLOSA–REVIEW. NEONATOLOGY. 2012;2(11).
5. Gobert, R., Times change - A family story about living with E. e-bility.com. (2002).
6. Hinde, S., Little girl’s life of pain. HeraldSun.com.au. (2006).
7. Intong LR, Murrell DF. Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clinics in dermatology. 2012 Jan 1;30(1):70-7.
8. McGrath JA. Recently identified forms of epidermolysis bullosa. Annals of dermatology. 2015 Dec 1;27(6):658-66.
9. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. Journal of the American Academy of Dermatology. 2008 Jun 1;58(6):931-50.
10. Momeni, A., and K. Pieper. "Junctional epidermolysis bullosa: a case report." International journal of paediatric dentistry. 2005; 15(2): 146-150.
11. Oliveira TM, Sakai VT, Candido LA, Silva S, Machado MA. Clinical management for epidermolysis bullosa dystrophica. Journal of Applied Oral Science. 2008 Feb;16(1):81-5.
12. Boeira VL, Souza ES, Rocha BD, Oliveira PD, Oliveira MD, Rêgo VR, Follador I. Inherited epidermolysis bullosa: clinical and therapeutic aspects. Anais brasileiros de dermatologia. 2013;88:185-98.
13. Shinkuma S, McMillan JR, Shimizu H. Ultrastructure and molecular pathogenesis of epidermolysis bullosa. Clinics in dermatology. 2011 Jul 1;29(4):412-9.
14. Mitsuhashi Y, Hashimoto I. Genetic abnormalities and clinical classification of epidermolysis bullosa. Archives of dermatological research. 2003 Apr 1;295(1):S29-33.
15. Bolling MC, Lemmink HH, Jansen GH, Jonkman MF. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. British Journal of Dermatology. 2011 Mar;164(3):637-44.
16. Sprecher E. Epidermolysis bullosa simplex. Dermatologic clinics. 2010 Jan 1;28(1):23-32.
17. Almaani N, Liu L, Dopping?Hepenstal PJ, Lovell PA, Lai?Cheong JE, Graham RM, Mellerio JE, McGrath JA. Autosomal dominant junctional epidermolysis bullosa. British Journal of Dermatology. 2009 May;160(5):1094-7.
18. Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. Journal of the American Academy of Dermatology. 2009 Sep 1;61(3):367-84.
19. Lai-Cheong JE, McGrath JA. Kindler syndrome. Dermatologic clinics. 2010 Jan 1;28(1):119-24.
20. Ashton GH, McLean WI, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. Journal of investigative dermatology. 2004 Jan 1;122(1):78-83.
21. Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M, University of Washington Center for Mendelian Genomics. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. International journal of dermatology. 2017 Dec;56(12):1406-13.
22. Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Human molecular genetics. 1996 Feb 1;5(2):231-7.
23. Bhinder MA, Arshad MW, Zahoor MY, Shehzad W, Tariq M, Shabbir MI. Junctional epidermolysis bullosa (non-Herlitz type). J Coll Physicians Surg Pak. 2017 May 1;27:308-10.
24. Nazir Z, Attar ZB, Moazam F. Congenital pyloric atresia and epidermolysis bullosa. Journal of the Pakistan Medical Association. 1991;41(10):254.
25. Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. Journal of investigative dermatology. 2005 Jan 1;124(1):111-5.
26. Gupta R, Woodley DT, Chen M. Epidermolysis bullosa acquisita. Clinics in dermatology. 2012 Jan 1;30(1):60-9.
27. Mohammad N, Sohaila A, Hussain AA, Ani S. Epidermolysis Bullosa In The Newborn. Journal of Ayub Medical College Abbottabad. 2016 Mar 10;28(1):186-8.
28. Wright JT. Oral manifestations in the epidermolysis bullosa spectrum. Dermatologic clinics. 2010 Jan;28(1):159.
29. Tosti A, Duque-Estrada B, Murrell DF. Alopecia in epidermolysis bullosa. Dermatologic clinics. 2010 Jan 1;28(1):165-9.
30. Fine JD. Inherited epidermolysis bullosa. Orphanet journal of rare diseases. 2010 Dec;5(1):1-7.
31. Yuen WY, Duipmans JC, Molenbuur B, Herpertz I, Mandema JM, Jonkman MF. Long?term follow?up of patients with Herlitz?type junctional epidermolysis bullosa. British Journal of Dermatology. 2012 Aug;167(2):374-82.
32. Horn HM, Tidman MJ. The clinical spectrum of dystrophic epidermolysis bullosa. British Journal of Dermatology. 2002 Feb;146(2):267-74.
33. Bruckner-Tuderman L. Dystrophic epidermolysis bullosa: pathogenesis and clinical features. Dermatologic clinics. 2010 Jan 1;28(1):107-14.
34. Hussain R, Bittles AH. The prevalence and demographic characteristics of consanguineous marriages in Pakistan. Journal of biosocial science. 1998 Apr;30(2):261-75.
35. Hamamy H. Consanguineous marriages. Journal of community genetics. 2012 Jul;3(3):185-92.
36. McGrath JA, Kivirikko S, Ciatti S, Moss C, Christiano AM, Uitto J. A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. Journal of investigative dermatology. 1996 Apr 1;106(4).
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Published
2021-10-10
