Overview of Heriditary Epidermolysis Bullosa

Paper Details

Review Paper 01/06/2019
Views (289) Download (11)

Overview of Heriditary Epidermolysis Bullosa

Saima Anwer Zaman, Saliha Samiullah
Int. J. Biosci.14( 6), 241-249, June 2019.
Certificate: IJB 2019 [Generate Certificate]


Epidermolysis is a monogenic disease, constitute several genodermatosis due to metamorphosis in numerous structural and functional cohesion in skin. Epidermolysis Bullosa (EB) is considered a multi-system disorder associated with significant outer-layer manifestation with severe complications in other epithilized organ possibly provided. After 19th century several proceeding in classification has been switched. This review will recapitulate the most recent classification with epidemiological and clinical features; recent effective gene therapy treatment with positive potential focused on EB recently identified forms in autosomal recessive manner one of Junctional Epidermolysis Bullosa (JEB) and other two in EBS (DST-e, EXPH5 and ITGA3).Level of skin cleavage is identified by IFM Immunoflourescence mapping and Electron microscopy EM. Requires far-reaching patient treatment management on advance level because EB addicts a long-term cure and medicines which is an expensive and conviction to stress on financial ground, much more research need to be developed and used in clinical practices. This review provides practical knowledge of disease including classification and phenotypes.


Aberdam D, Galliano MF, Vailly J, Pulkkinen L, Bonifas J, Christiano AM, Tryggvason K, Uitto J, Epstein Jr EH, Ortonne JP, Meneguzzi G. 1994. Herlitz’s junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5). Nature genetics 6(3), 299. https://doi.org/10.1038/ng0394-299

Arbiser JL, Fan CY, Su X, Van Emburgh BO, Cerimele F, Miller MS, Harvell J, Marinkovich MP. 2004. Involvement of p53 and p16 tumor suppressor genes in recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. Journal of investigative dermatology 123(4), 788-90. https://doi.org/10.1111/j.0022-202X.2004.23418.x

Bruckner-Tuderman L, McGrath JA, Robinson EC, Uitto J. 2013. Progress in epidermolysis bullosa research: Summary of DEBRA. International Research Conference 2012. Journal of Investigative Dermatology 133(9), 2121-2126. http://dx.doi.org/10.1038/jid.2013.127

Christiano AM, Ryynänen M, Uitto J. 1994. Dominant dystrophic epidermolysis bullosa: identification of a Gly–> Ser substitution in the triple-helical domain of type VII collagen. Proceedings of the National Academy of Sciences 91(9), 3549-53. https://doi.org/10.1073/pnas.91.9.3549.

Chiaverini C, Bourrat E, Mazereeuw-Hautier J, Hadj-Rabia S, Bodemer C, Lacour JP. 2017. Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment. In Annales de dermatologie et de venereologie 144(1), 6-35. https://doi.org/10.1016/j.annder.2016.07.016

Channel 4. 2004.The Boy Whose Skin Fell Off. 25 March. 2004. Available at: (accessed 24 March 2012). http://www.channel4.com/programmes/the-boywhose-skinfelloff/4od#3131855

Eady RA, Dopping-Hepenstal PJ. 2010. Transmission electron microscopy for the diagnosis of epidermolysis bullosa. Dermatologic clinics 28(2), 211-22.

Fine JD, Diem A. Living with EB. 2009. In Life with Epidermolysis Bullosa (EB) Springer, Vienna. 309-333. https://doi.org/10.1007/978-3-211-79271-1.

Fine JD. Editor. 1999. Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances, and the findings of the National Epidermolysis Bullosa Registry. Johns Hopkins University Press. https://doi.org/10.1016/s0190-9622(01)70199-5

Fine JD, Johnson LB, Weiner M, Stein A, Cash S, Deleoz J, Devries DT, Suchindran C. 2005. Pseudosyndactyly and musculoskeletal contractures in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry, 1986–2002. Journal of Hand Surgery 30(1), 14-22. https://doi.org/10.1016%2FJ.JHSB.2004.07.006

Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, McGrath JA. 2008. 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 58(6), 931-50. https://doi.org/10.1016/j.jaad.2008.02.004

Fassihi H, Wessagowit V, Jones C, Dopping-Hepenstal P, Denyer J, Mellerio JE, Clark S, McGrath JA. 2005.Neonatal diagnosis of Kindler syndrome. Journal of dermatological science 39(3),  183-5. https://doi.org/10.1016/j.jdermsci.2005.05.007

Fine JD, Johnson LB, Weiner M, Stein A, Cash S, DeLEOZ JO, Devries DT, Suchindran C. 2004.Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature. The Journal of urology 172(5), 2040-4. https://doi.org/10.1097/01.ju.0000143200.86683.2c

Fine JD, Johnson LB, Weiner M, Li KP, Suchindran C. 2009. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. Journal of the American Academy of Dermatology 60(2), 203-11. https://doi.org/10.1016/j.jaad.2008.09.035

Fine JD, Mellerio JE. 2009. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. Journal of the American Academy of Dermatology 61(3), 367-84. https://doi.org/10.1016/j.jaad.2009.03.052

Feijoo JF, Bugallo J, Limeres J, Peñarrocha D, Peñarrocha M, Diz P. 2011. Inherited epidermolysis bullosa: an update and suggested dental care considerations. The Journal of the American Dental Association 142(9), 1017-25. https://doi.org/10.14219/jada.archive.2011.0321

Fine JD, Hintner H. 2008.Life with Epidermolysis Bullosa (Eb). Springer. https://doi.org/10.1007/978-3-211-79271-1

Fine JD, Johnson LB, Weiner M, Stein A, Cash S, DeLEOZ JO, Devries DT, Suchindran C. 2004. Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature. The Journal of urology 172(5), 2040-2044. https://doi.org/10.1097/01.ju.0000143200.86683.2c

Fine JD, Johnson LB, Weiner M, Stein A, Cash S, Deleoz J, Devries DT, Suchindran C. 2004. Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry. American journal of ophthalmology 138(2), 254-62. https://doi.org/10.1016/j.ajo.2004.03.034

Groves RW, Liu L, Dopping-Hepenstal PJ, Markus HS, Lovell PA, Ozoemena L, Lai-Cheong JE, Gawler J, Owaribe K, Hashimoto T, Mellerio JE. 2010. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. Journal of Investigative Dermatology 130(6), 1551-7. https://doi.org/10.1038/jid.2010.19

Gannon B. 2004. Epidermolysis bullosa: pathophysiology and nursing care. Neonatal Network 23(6), 25-32. https://doi.org/10.1891/0730-0832.23.6.25

Gobert R. 2002. Times change – A family story about living with E; e-bility.com.

Hinde S. 2006. Little girls life of pain.HeraldSun.com.au

Has C, Castiglia D, del Rio M, Garcia Diez M, Piccinni E, Kiritsi D, Kohlhase J, Itin P, Martin L, Fischer J, Zambruno G. 2011. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Human mutation 32(11), 1204-12. https://doi.org/10.1002/humu.21576

Intong LR, Murrell DF. 2012 Jan 1.Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clinics in dermatology 30(1), 70-7. https://doi.org/10.1016/j.clindermatol.2011.03.012

Intong LR, Murrell DF. 2010.How to take skin biopsies for epidermolysis bullosa. Dermatologic clinics 28(2), 197-200. https://doi.org/10.1016/j.det.2009.12.002

Isles R. 2005. Dundee Scientists on road to cure for “Butterfly Children” condition. Head of Press, University of Dundee.

Keefe RJ. 2008.Inherited epidermolysis bullosa: This dermal disease is beyond skin deep. Journal of the American Academy of Physicians 21(7), 22-7. https://doi.org/10.1097/01720610-200807000-00007

Lai‐Cheong JE, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M, Akdeniz S, Liu L, McGrath JA. 2009.Kindler syndrome: a focal adhesion genodermatosis. British Journal of Dermatology 160(2), 233-42. https://doi.org/10.1111/j.1365-2133.2008.08976.x

Lai-Cheong JE, McGrath JA. 2010. Dermatologic clinics. Kindler syndrome  28(1), 119-24. https://doi.org/10.1016/j.det.2009.10.013

Lanschützer C, Laimer M, Pohla-Gubo G, Nischler E, Eady RA, Klausegger A, Bauer J, Fassihi H, McGrath J, Stoiber J, Ludwikowski B. 2009. Life with Epidermolysis Bullosa (EB): Etiology, Diagnosis, Multidisciplinary Care and Therapy. Springer Science & Business Media. https://doi.org/10.1007/978-3-211-79271-1

Mellerio JE, Weiner M, Denyer JE, Pillay EI, Lucky AW, Bruckner A, Palisson F. 2007.Medical management of epidermolysis bullosa: proceedings of the IInd international symposium on epidermolysis bullosa, Santiago, Chile, 2005. International journal of dermatology 46(8), 795-800. https://doi.org/10.1111/j.1365-4632.2007.03316.x

Ortiz-Urda S, Garcia J, Green CL, Chen L, Lin Q, Veitch DP, Sakai LY, Lee H, Marinkovich MP, Khavari PA. 2005. Type VII collagen is required for Ras-driven human epidermal tumorigenesis. Science 307(5716), 1773-6. https://doi.org/10.1126/science.1106209

Prockop DJ, Kuivaniemi H, Tromp G. 1993. Heritable disorders of connective tissue. In: Kasper DL, Braunwald E, Fauci AS et al (eds). https://doi.org/10.1053/berh.1999.0069

Sawamura D, McMillan JR, Akiyama M, Shimizu H. 2003 Apr 1. Epidermolysis bullosa: directions for future research and new challenges for treatment. Archives of dermatological research 295, 34-42. https://doi.org/10.1007/s00403-002-0370-7

Shinkuma S, McMillan JR, Shimizu H. 2011 Jul 1. Ultrastructure and molecular pathogenesis of epidermolysis bullosa. Clinics in dermatology 29(4), 412-9. https://doi.org/10.1016/j.clindermatol.2011.01.010

Uitto J, Richard G. 2004. Progress in epidermolysis bullosa: genetic classification and clinical implications. InAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics (131)1, 61-74. Hoboken: Wiley Subscription Services, Inc., A Wiley Company. https://doi.org/10.1002/ajmg.c.30035

Uitto J, McGrath JA, Rodeck U, Bruckner-Tuderman L, Robinson EC. 2010. Progress in epidermolysis bullosa research: toward treatment and cure. Journal of Investigative Dermatology 130(7), 1778-1784. https://doi.org/10.1038/jid.2010.90

Uitto J, Bruckner-Tuderman L, Christiano AM, McGrath JA, Has C, South AP Robinson EC. 2016. Progress toward treatment and cure of epidermolysis bullosa: summary of the DEBRA International Research Symposium EB2015. Journal of Investigative Dermatology 136(2), 352-358. https://doi.org/10.1016/j.jid.2015.10.050