Abstract
The article presents the data of the clinical observation of a newborn with congenital bullous epidermolysis. The feature of this case is the course of this disease in the newborn with retardation of intrauterine development. Nowadays there is no aetiopathogenetic treatment of patients with inborn bullous epidermolysis and all existent methods of treatment of such patients are palliative. This study demonstrated a significant improvement of the baby’s clinical status.
Highlights
The article presents the data of the clinical observation of a newborn with congenital bullous epidermolysis
The feature of this case is the course of this disease in the newborn with retardation of intrauterine development
Nowadays there is no aetiopathogenetic treatment of patients with inborn bullous epidermolysis and all existent methods of treatment of such patients are palliative
Summary
The article presents the data of the clinical observation of a newborn with congenital bullous epidermolysis. Ключевые слова: новорожденные, врожденный буллезный эпидермолиз, задержка внутриутробного развития, ген COL7A1. Аутосомно-доминантный буллезный эпидермолиз дистрофического типа у новорожденного. Все формы врожденного буллезного эпидермолиза связаны с генетически обусловленными структурными нарушениями белков эпидермиса или дермо-эпидермального соединения, что клинически проявляется хрупкостью кожи.
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