Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome - A report of 3 cases and review of the literature

Background: Junctional epidermolysis bullosapyloric atresia syndrome is rec ognized as a distinct autosomal recessive entity. Affected infants present with skin fragility and inability to feed due to intestinal obstruction. De spite successful surgical repair of the anatomical defect, the outcome is p oor owing to poor feeding, malabsorption, failure to thrive, and sepsis. Observations: In 70 cases of intestinal obstruction and epidermolysis bullo sa reported in the medical literature and the 3 reported here, surgical int ervention was attempted 51 times. In all except 16 infants, death occurred before age 11 months (mean age, 70 days). Renal involvement and continued f ailure to thrive accompanied the skin disease in survivors, who ranged in a ge from 30 days to 16 years (mean age, 4.0 years). Conclusions: The poor prognosis of this condition must be considered when d ecisions are made regarding surgical correction. Attempting surgical correc tion may be warranted in individual circumstances, but withholding surgical intervention and providing palliative support is an acceptable alternative .