Outcome After Surgical Repair of Junctional Epidermolysis Bullosa–Pyloric Atresia Syndrome

Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.

Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia was carried out in a couple at risk. Their two previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. Ultrastructural study of fetal skin biopsies obtained at 18 weeks' gestation showed dermal-epidermal separation at the lamina lucida level...

Surgical repair of tricuspid atresia.

Surgical repair of tricuspid atresia has been carried out in three patients; two of these operations have been successful. A new surgical procedure has been used which transmits the whole vena caval blood to the lungs, while only oxygenated blood returns to the left heart. The right atrium is, in this way, 'ventriclized', to direct the inferior vena caval blood to the left lung, the right pulmo...

Platypnea-Orthodeoxia Syndrome Two Decades after Definitive Surgical Repair of Pulmonary Atresia with Intact Ventricular Septum.

A 20-year-old female had undergone definitive surgical repair for pulmonary atresia with intact ventricular septum soon after birth. She was referred to our institution with the chief complaint of clubbing fingers. A thorough examination revealed platypnea-orthodeoxia syndrome due to an interatrial right-to-left shunt through a secundum atrial septal defect. Percutaneous closure with an Amplatz...

Junctional epidermolysis bullosa.

Epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterized by fragility and blistering of the skin, often associated with extracutaneous manifestations. The level of vesiculation within the skin defines 3 major subtypes of EB: EB simplex, junctional EB, and dystrophic EB. We present the case of a male neonate of 36 weeks of gestation, who was born with a few b...

Junctional epidermolysis bullosa