PYLORIC ATRESIA ASSOCIATED WITH EPIDERMOLYSIS BULLOSA- A CASE REPORT

Authors

  • Alisha Saleem Dr. Ziauddin Hospital, Karachi-Pakistan
  • Ashar Masood Khan Dr. Ziauddin Hospital, Karachi-Pakistan
  • Mushtaq Ahmed Patni Charitable Hospital, Baldia Town, Karachi-Pakistan

DOI:

https://doi.org/10.55519/JAMC-04-13593

Keywords:

Pyloric atresia, Epidermolysis bullosa, Web excision, Carmi syndrome, Heineke-Mikulicz pyloroplasty

Abstract

Pyloric atresia is a rare congenital condition marked by obstruction of the gastric outflow because the pylorus is absent or severely narrowed. Blistering and fragility of the skin and mucous membranes are symptoms of the hereditary condition epidermolysis bullosa (EB). It is highly uncommon for pyloric atresia and epidermolysis bullosa to co-occur, and this presents substantial diagnostic and treatment difficulties. We describe a case of a newborn who was born with pyloric atresia and epidermolysis bullosa, focusing on the clinical presentation, the diagnostic procedure, and the surgical therapy. The complex interactions between these two dissimilar illnesses highlight the value of a multidisciplinary approach combining neonatologists, dermatologists, and paediatric surgeons for precise diagnosis and thorough care. By sharing this case report, we hope to add to the limited literature on this particular set of congenital defects and highlight the importance of increased clinical awareness and team-based treatment approaches when dealing with cases this complicated.

 

References

1. Bardhan A, Bruckner-Tuderman L, Chapple ILC, et al. Epi-dermolysis bullosa. Nat Rev Dis Primers. 2020;6:78. doi:10.1038/s41572-020-0210-0.

2. Vidal F, Aberdam D, Miquel C, et al. Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet. 1995;10(2):229–234. doi:10.1038/ng0695-229.

3. Swinburne L, Kohler HG. Symmetrical congenital skin de-fects in siblings. Arch Dis Child. 1968;43:499.

4. Biçakci Ü, Tander B, Çelik FÇ, Aritürk E, Rızalar R. Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature. Ulus Travma Acil Cerrahi Derg. 2012;18(3):271–273.

5. Lucky AW, Gorell E. Epidermolysis bullosa with pyloric atre-sia. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. Ge-neReviews® [Internet]. Seattle (WA): University of Washing-ton, Seattle; 1993-2023. Updated 2023 Jan 26. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1157/.

6. Sarin YK, Nagdeve NG. Carmi syndrome complicated by pharyngo-oesophageal perforation. Indian Pediatr. 2006;43:61–64.

7. Chahed J, Mekki M, Ksia A, et al. Management of digestive lesions associated with congenital epidermolysis bullosa. Afr J Paediatr Surg. 2015;12(3):221–226.

8. Pfendner EG, Lucky AW. Epidermolysis bullosa with pyloric atresia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Wash-ington, Seattle; 1993-2019. Updated 2017 Sep 7.

9. Dank JP, Kim S, Parisi MA, et al. Outcome after surgical repair of junctional epidermolysis bullosa–pyloric atresia syndrome: a report of 3 cases and review of the literature. Arch Dermatol. 1999;135(10):1243–1247.

10. Nazir Z, Attar Z, Moazam F. Congenital pyloric atresia and epidermolysis bullosa. J Pak Med Assoc. 1991;41(10):254–256.

11. Tayeb M, Khogeer S, Fallatah A, et al. Congenital pyloric atresia: a report of two cases. Ann Saudi Med. 2005;25(2):165–167. doi:10.5144/0256-4947.2005.165.

12. Bar-Maor JA, Nissan S, Nevo S. Pyloric atresia: a hereditary congenital anomaly with autosomal recessive transmission. J Med Genet. 1972;9(1):70–72. doi:10.1136/jmg.9.1.70.

13. Chung HJ, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatol Clin. 2010;28(1):43–54. doi:10.1016/j.det.2009.10.005.

14. Kim JH, Park HY, Lee HJ, et al. Case of epidermolysis bull-osa with pyloric atresia. Ann Dermatol. 2011;23(Suppl 1)–S44. doi:10.5021/ad.2011.23.S1.S41.

15. Søreide K, Sarr MG, Søreide JA. Pyloroplasty for benign gastric outlet obstruction — indications and techniques. Scand J Surg. 2006;95(1):11–16.

Downloads

Published

2024-11-25

How to Cite

Alisha Saleem, Khan , A. M., & Ahmed , M. (2024). PYLORIC ATRESIA ASSOCIATED WITH EPIDERMOLYSIS BULLOSA- A CASE REPORT. Journal of Ayub Medical College Abbottabad, 36(4), 838–840. https://doi.org/10.55519/JAMC-04-13593