Have a personal or library account? Click to login
Congenital Absence of Skin on the Right Leg and Nail Abnormalities-Epidermolysis Bullosa or Bart’s Syndrom ? Cover

Congenital Absence of Skin on the Right Leg and Nail Abnormalities-Epidermolysis Bullosa or Bart’s Syndrom ?

Open Access
|Feb 2022

References

  1. 1. Fine, J. D., Bruckner-Tuderman, L., Eady, R. A., Bauer, E. A., Bauer W. J., Has, C., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., Marinkovich, M. P., Martinez, E. A., McGrath, A. J., Mellerio, E. J., Celia, M., Murrell, D. F., Shimizu, H., Uitto, J., Woodley, D. & Zambruno, G. (2014). Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. J Am Acad Dermatol. 70(6), 1103-1126. DOI: 10.1016/j.jaad.2014.01.903.10.1016/j.jaad.2014.01.903
  2. 2. Gonzalez, M. E. (2013). Evaluation and treatment of the newborn with epidermolysis bullosa. Seminars in perinatology 37(1), 32–39. DOI: 10.1053/j.semperi.2012.11.004.10.1053/j.semperi.2012.11.004
  3. 3. Lynne, V., Burns, L., Handsaker, J. & Murdoch J. M. (2018). Epidermolysis bullosa: management complexities for paediatric patients. Br J Nurs. 27(12), 20-25. DOI: 10.12968/bjon.2018.27.Sup12.S20.10.12968/bjon.2018.27.Sup12.S20
  4. 4. Fine, J. D. (2016). Epidemiology of Inherited Epidermolysis bullosa based on incidence and prevalence estimates from the national epidermolysis bullosa registry. JAMA Dermatol. 152(11), 1231-1238. DOI: 10.1001/jamadermatol.2016.2473.10.1001/jamadermatol.2016.2473
  5. 5. Wiss, K. (2001). Epidermolysis bullosa: Clinical, epidemiologic, and laboratory advances and the findings of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 44 (5). 882. DOI: https://doi.org/10.1016/S0190-9622(01)70199-5.10.1016/S0190-9622(01)70199-5
  6. 6. Bart, B. J., Gorlin, R. J., Anderson, V. E. & Lynch, F. W. (1966). Congenital localized absence of skin and associated abnormalities resembling epidermolysis bullosa. A new Syndrome. Arch Dermatol. 93(3). 296-304. DOI:10.1001/archderm.1966.0160021003200510.1001/archderm.1966.01600210032005
  7. 7. Michalak, A., Cichoż-Lach, H., Prozorow-Król, B., Buk, L. & Dzida, M. (2018). A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review. BMC Gastroenterol. 18(1), 47. DOI: 10.1186/s12876-018-0771-5.10.1186/s12876-018-0771-5
  8. 8. Kansra, M., Raman, V. S., Kishore, K., Khanna, S., Puri, B. & Sharma, A. (2018). Congenital pyloric atresia - nine new cases: Single-center experience of the longterm follow-up and the lessons learnt over a decade. J Pediatr Surg. 53(11), 2112-2116. DOI: 10.1016/j.jpedsurg.2018.04.015.10.1016/j.jpedsurg.2018.04.015
  9. 9. Chen, Z., Bu, W., Feng, S. & Wang, H. (2018). Bart’s syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1. J Dermatol. 45(8), 1000-1002. DOI: 10.1111/1346-8138.14352.10.1111/1346-8138.14352
  10. 10. van den Akker, P. C., van Essen, A. J., Kraak, M. M., Meijer, R., Nijenhuis, M., Meijer, G., Hofstra, R. M., Pas, H.H., Scheffer, H. & Jonkman, M.F. (2009). Longterm follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations. J Dermatol Sci. 56(1), 9-18. DOI: 10.1016/j.jdermsci.2009.06.015.10.1016/j.jdermsci.2009.06.015
DOI: https://doi.org/10.2478/sjecr-2019-0035 | Journal eISSN: 2956-2090 | Journal ISSN: 2956-0454
Language: English
Page range: 371 - 374
Submitted on: Mar 12, 2019
|
Accepted on: Jun 18, 2019
|
Published on: Feb 2, 2022
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2022 Marina Stanojevic, Katarina Cuković Prokic, Dragana Savic, Biljana Vuletic, Andjelka Stojkovic, Sanja Knezevic, Katerina Dajic, Jelena Cekovic, Aleksandra M. Simovic, published by University of Kragujevac, Faculty of Medical Sciences
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.