Öz

Epidermolizis bullosa, özofagus atrezisi birlikteliği oldukça ender görülür. Literatürde, epidermolizis bullosa, özofagus atrezisi ile beraber yarık damak ve dudak birlikteliği ise bildirilmemiştir. Bu yazıda, özofagus atrezisi nedeniyle opere edilen ve beraberinde epidermolizis bullosa, yarık damak ve dudak bulunan olgumuz ve özofagus atrezisi olan bir hastada beraberinde yarık damak ve dudak bulunmasının tanı koymada yarattığı güçlük değerlendirilmiştir.

Anahtar Kelimeler: Epidermolizis bullosa, özöfagus atrezisi, yarık damak, yarık dudak

Referanslar

  1. Cetinkurşun S, Öztürk H, Celasun B, Sakarya M T, Alpasian F. Epidermolysis bullosa associated with pyloric, esophageal, and anal atresia: a case report. J Pediatr Surg 1995:30(10):1475-78.
  2. Mullassery D, Llewellyn RS, Almond SL, Jesudason EC, Losty PD. Oesophageal atresia with cleft lip and palate:a marker for as- sociated lethal anomalies? Pediatr Surg Int 2008; 24(7):815-7.
  3. Lacour JP, Hoffman P, Bastiani-Griffet F, Boutte P, Pisani A, Or- tonne JP. Lethal junctional epidermolysis bullosa with normal ex- pression of BM 600 and antropyloric atresia: a new variant of junc- tional epidermolysis bullosa? Eur J Pediatr 1992;151(4):252-7.
  4. Adashi EY, Louis FJ, Vasquez M. An usual case of epidermolysis bullosa herediteria letalis with cutaneous scarring and pyloric atre- sia. J Pediatr 1980;96:443-6.
  5. Hayashi AH. Galliani CA, Gillis DA. Congenital pyloric atresia and junctional epidermolysis bullosa: a report of long term survival and a review of the literature. J Pediatr Surg 1991;26(11):1341-5.
  6. Weber M. Hemidesmosome deficiency of gastro-intestinal mucosa, demonstrated in a child with Herlitz sendrome and pyloric atresia. Acta Derm Venereol 1987;67(4):360-2.
  7. Peltier FA, Tschen EH, Raimer SS, Kuo TT. Epidermolysis bullosa letalis associated with congenital pyloric atresia. Arch Dermatol 1981;117(11):728-31.
  8. Bull MJ, Norins AL, Weaver DD, Weber T, Mitchell M. Epider- molysis bullosaı-pyloric atresia. An autosomal recessive syn- drome. Am J Dis Child 1983;137(5):449-51.
  9. Rawashdeh MA, Jawdat Abu-Hawas B. Congenital associated malformations in a sample of jordanian patients with cleft lip and palate. J Oral Maxillofac Surg 2008;66(10):2035-41.

Telif hakkı ve lisans

Nasıl atıf yapılır

1.
Akış Z, Şenaylı A, Tiryaki T. Epidermolizis Bullosa, Özofagus Atrezisi, Yarık Damak ve Dudak Birlikteliği. Turk J Pediatr Dis [Internet]. 2011 Aug. 1 [cited 2025 May 25];5(2):100-3. Available from: https://turkjpediatrdis.org/article/view/140