NEONATAL CASE SERIES WITH THE DIAGNOSIS OF EPIDERMOLYSIS BULLOSA

Yıl 2011, Cilt: 5 Sayı: 1, 5 - 10, 01.12.2011

M. Yekta Öncel Sevim Ünal Aslıhan Yılmaz Jale Yıldız Ayşe Yakut Akbaş

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

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