Severe Junctional Epidermolysis Bullosa: Honoring Parental Values in Pediatric Palliative Decision-Making

Severe junctional epidermolysis bullosa (JEB) is a rare, incurable, autosomal recessive blistering disorder with a uniformly poor prognosis. We present the case of a female infant diagnosed shortly after birth with genetically confirmed severe JEB, whose family prioritized comfort-focused care and memory-making over life-prolonging interventions. Her interdisciplinary care centered on symptom relief, bonding, and alignment with family values. This case underscores the importance of early diagnosis and values-based decision-making in managing rare, life-limiting conditions like severe JEB.