Abstract

Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. There are three types of EB; simplex, junctional (JEB) and dystrophic forms (DEB). JEB is a rare type with high mortality in the neonatal period. Gastrointestinal tract atresia and/or stenosis and genitourinary anomalies may also accompany to the disorder. We diagnosed EB by clinical and histopathologic findings in 3 neonates, and only with clinical findings in 2 neonates. One of them had cleft lip-palate, umbilical hernia, tracheoesophageal fistula and esophageal atresia. Herein, we present five neonates with EB diagnosed by clinical and pathological findings and associated congenital anomalies

Keywords: Epidermolysis bullosa, newborn, cleft lip-palate, esophageal atresia

References

  1. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meet- ing on Diagnosis and Classification of EB. J Am Acad Dermatol 2008;58(6):931-50.
  2. Fine JD, Johnson LB, Suchindran C, Moshell A, Gedde-Dahl T. The epidemiology of inherited EB: findings within American Ca- nadian and European study populations. Edited by: Fine JD, Bauer EA, McGuire J, Moshell A. Epidermolysis Bullosa: Clinical, Epi- demiologic, and Laboratory Advances, and the Findings of the Na- tional Epidermolysis Bullosa Registry Baltimore: Johns Hopkins University Press 1999:101-13.
  3. Fine JD, Bauer EA, Briggaman RA, Carter DM, Eady RA, Esterly NB, et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcom- mittee on Diagnosis and Classification of the National Epidermoly- sis Bullosa Registry. J Am Acad Dermatol 1991;24(1):119–35.
  4. Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis 2010;5:12.
  5. Bruckner-Tuderman L. Hereditary skin disease of anchoring fi- brils. J Dermatol Sci 1999;20(2): 122-33.
  6. Christiano AM, Uitto J. Molecular complexity of the cutaneous basement membrane zone revelations from the paradigms of epi- dermolysis bullosa. Exp Dermatol 1996;5(1):1-11.
  7. Ünal İ, Ertam İ. Çocukluk çağı büllöz dermatozları. Türkiye Klinikleri J Pediatr Sci 2005;1(4): 123-30.
  8. Demirçeken F, Okuyaz Ç, Zorlu P. Epidermolizis bülloza. Yeni Tıp Dergisi 2000;17:20-22.
  9. Birge K. Nutrition management of patients with epidermolysis bullosa. J Am Diet Assoc 1995;95(5):575-9.
  10. Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol 2005;124(1):111-5.
  11. Muller M, Morgen R, Engert J. Pyloric atresia: report of four cases and review of literature. Pediatr Surg Int 1990;5:276-9.
  12. Agarwala S, Goswami JK, Mitra DK. Pyloric atresia associated with epidermolysis bullosa, malrotation and high anorectal malfor- mation with recto-urethral fistula: a report of successful manage- ment. Pediatr Surg Int 1999;15(3-4):264-5.
  13. Cooper J, O SJ, Thaller SR. Case report: cleft palate closure in 18-month-old female with epidermolysis bullosa. Cleft Palate Craniofac J 2003;40(1):88-90.
  14. Ozgur F, Sonmez E, Tuncbilek G. Cleft lip and cleft palate closure in 13 month-old female with Epidermolysis Bullosa. J Craniofac Surg 2005;16(5):843-7.
  15. Silva LC, Cruz RA, Abou-Id LR, Brini LN, Moreira LS. Clinical evaluation of patients with epidermolysis bullosa: review of the literature and case reports. Spec Care Dentist 2004;24(1):22-7.
  16. Uitto J, Christiano AM. Inherited epidermolysis bullosa. Clinical features, molecular genetics, and pathoetiologic mechanisms. Der- matol Clin 1993;11(3):549-63.
  17. Fine JD, Johnson LB, Weiner M, Suchindran C. Gastrointestinal complications of inherited epidermolysis bullosa: cumulative ex- perience of the National Epidermolysis Bollosa Registry. J Pediatr Gastroenterol Nutr 2008;46(2):147-58.
  18. Jaunzems AE, Woods AE, Staples A. Electron microscopy and morphometry enhances differentiation of epidermolysis bullosa subtypes with normal values for 24 parameters in skin. Arch Der- matol Res 1997;289(11):631-9.
  19. Bergman R. Immunohistopathologic diagnosis of epidermolysis bullosa. Am J Dermatopathol 1999;21(2):185-92.

Copyright and license

How to cite

1.
Öncel MY, Ünal S, Yılmaz A, Yıldız J, Akbaş AY. NEONATAL CASE SERIES WITH THE DIAGNOSIS OF EPIDERMOLYSIS BULLOSA. Turk J Pediatr Dis [Internet]. 2011 Dec. 1 [cited 2025 May 25];5(1):5-10. Available from: https://turkjpediatrdis.org/article/view/125