Abstract Epidermolysis bullosa (EB) is a rare congenital disorder caused by mutations affecting structural proteins of the epidermis and dermo-epidermal junction, resulting in extreme skin and mucosal fragility, blistering with minimal trauma, and impaired wound healing. Gastric outlet obstruction (GOO) in newborns arises from disruption of normal gastric emptying and may cause poor feeding, weight loss, severe vomiting, dehydration, and electrolyte imbalance. Long-segment gastroduodenal atresia is a rare subtype of GOO in which the blockage spans a continuous region from the distal stomach into the proximal duodenum. To date, no published reports have described EB associated with a long-segment gastroduodenal atresia. We report a full-term female newborn who presented with diffuse blistering, nail dystrophy, and a long-segment gastroduodenal atresia.
Quran et al. (Thu,) studied this question.