Open Access

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

, , , , , , ,  and   
Feb 02, 2022

Cite
Download Cover

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

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 Search in Google Scholar

Language:
English
Publication timeframe:
4 times per year
Journal Subjects:
Medicine, Clinical Medicine, Clinical Medicine, other