Pediatric Patients With Epidermolysis Bullosa in the Emergency Department.

OBJECTIVES

To describe the clinical characteristics, reasons for consultation, management, and outcomes of patients with epidermolysis bullosa (EB) presenting to a pediatric emergency department (PED).

METHODS

We conducted a retrospective, observational study in a tertiary-care PED in Spain, designated as a national reference center for EB. All visits by patients with a confirmed diagnosis of EB between 2011 and 2025 were included. Demographic, clinical, and management data were collected.

RESULTS

Twenty-nine patients accounted for 169 PED visits (median age: 8.1 y; 62% female). Recessive dystrophic EB was the most frequent subtype (72.4%). The median number of visits per patient was 2 (IQR: 1 to 9). Most visits were triaged as level 3 (68%). The leading reasons for consultation were infections (42.6%), gastrointestinal complications (22.5%), particularly esophageal involvement, and gastrostomy-related problems (14.2%). Additional tests were required in 57.4% of visits. Wound/skin cultures were positive in 83.3% of cases in which they were obtained, most commonly isolating Gram-negative organisms and Staphylococcus species. Anemia was present in 83.3% of cases in which hemoglobin was measured. In patients with sepsis, both C-reactive protein and procalcitonin levels were significantly higher compared with non-sepsis cases. Venous access was required in 33.1% of visits and was difficult in 23.2%. Systemic antibiotics were administered in 35.5% of episodes, frequently intravenously. Hospital admission was required in 31% of visits, including 4.7% to the pediatric intensive care unit. Two deaths were recorded.

CONCLUSIONS

Pediatric patients with EB frequently present to the PED with complex and potentially severe conditions, particularly infections and gastrointestinal complications. High rates of anemia, need for intravenous therapy, and difficulties in vascular access highlight the challenges of acute management. Improved clinician training and standardized care pathways may enhance the safety and quality of emergency care for this vulnerable population.