NEONATAL CASE SERIES WITH THE DIAGNOSIS OF EPIDERMOLYSIS BULLOSA

Öz

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

Anahtar Kelimeler

• Epidermolysis bullosa, newborn, cleft lip-palate, esophageal atresia

Epidermolizis Bülloza Tanısı Alan Yenidoğan Olgu Serisi

Öz

Epidermolizis bülloza (EB), travmayı takiben oluşan büllerle karakterize, kalıtsal geçişli bir hastalıktır. EB simpleks, “junctional” (JEB) ve distrofik (DEB) tipleri vardır. JEB tipi yenidoğan döneminde yüksek mortaliteye sahipolup, nadir görülmektedir. Gastrointestinal sistemde atrezi ve/veya stenoz, genitoüriner anomaliler gibi patolojilere eşlik edebilmektedir. Epidermolizis bülloza tanısı alan olgularımız 3’üne klinik ve histopatolojik olarak, ikisine ise yalnızca klinik bulgularla tanı konulmuştur. Olgulardan birinde yarık dudak-damak, umbilikal herni, trakeoösefagiyal fistül ve ösefagus atrezisi mevcuttur. Burada EB tanısı alan beş yenidoğan klinik bulgular, patolojik incelemeler ve eşlik eden doğumsal anomalileriyle birlikte sunulmuştur.

Anahtar Kelimeler

• Epidermolizis bülloza, yenidoğan, yarık dudak-damak, özöfagus atrezisi

Kaynakça

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.