2024 FSA Podium and Poster Abstracts

P098: PNEUMOTHORAX IN A PATIENT WITH EPIDERMOLYSIS BULLOSA -WHEN A RARE DISORDER AND A COMMON PROCEDURE HAVE CHALLENGING COMPLICATIONS.
Victor J Wang; Madison Rhodes, DO; Felipe Pedroso, MD; Luis Caicedo, MD; Luis I Rodriguez, MD, FASA; Nicklaus Children's Hospital

Epidermolysis bullosa (EB) refers to a group of genetic skin disorders marked by severe skin fragility and blistering triggered by minor friction or trauma. These conditions arise from mutations in genes responsible for encoding structural proteins essential for maintaining the integrity of the skin's outer layer, known as the epidermis, and the underlying dermis. Distinct gene mutations in patients with EB have been associated with airway epithelial basement membrane pathology.

Epidermolysis bullosa comes in various forms, including epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), dystrophic epidermolysis bullosa (DEB), and the less common Kindler syndrome. EBS mainly causes blistering within the epidermis, while JEB affects proteins in the basement membrane, leading to more severe blistering. DEB, on the other hand, results from mutations in collagen genes, causing blistering within the dermis and scarring, often involving the mucosa and leading to esophageal scarring and strictures. Kindler syndrome presents with skin fragility, sensitivity to light, and involvement of mucous membranes.

Incidence of esophageal dilation in patients with DEB is more than 50%. Common adverse events after esophageal dilation in patients with EB include fever, pain and vomiting. In a study with in Children with EB after esophageal dilation, they found that 54% had no adverse events, 46% had 1 or >1 AE, and only 8.7% of the procedures had a significant event. None of their dilations resulted in perforation or pneumothorax

In this case, we present a 21yo girl with history of Recessive DEB, history of difficult airway, failure to thrive status post G-tube placement for nutritional supplementation, and severe esophageal strictures requiring esophageal dilation with pediatric gastroenterology in the procedure suite. Patient had previous esophageal dilations without complications. Peripheral IV was obtained in the holding area, sedation was given and after standard ASA monitors placed, patient was induced and successfully intubated on first attempt using video laryngoscope. After positioning, and protection of face and skin, the endoscope is introduced and found to have severe strictures in the upper esophagus, where first ballon dilation is performed, then endoscope is reintroduced and advance to lower esophagus were multiple esophageal webs and strictures are found. During this period, anesthesia noticed a change in volumes and increased PIPs, with associated desaturation, as attempts are made to improve ventilation manually (reaching PIP 35-40 cmH2O), abdomen is noted to be significantly distended, Gtube is opened and suctioned to released intrabdominal pressures. Hemodynamically, patient continues to be stable but minimal improvement in ventilatory parameters obtained, and we noticed severe bilateral swelling of eyelids and upon evaluation, skin crepitus and concern for subcutaneous emphysema is raised. Procedure is stopped, patient in repositioned and immediately chest Xray is obtained and surgery consulted. Xray showed complete left pneumothorax and mediastinal emphysema. Chest tube was placed and patient kept intubated and taken to PICU. After demonstrating improvement of pneumothorax, patient was extubated. Esophagogram done demonstrated a proximal esophageal perforation and later chest tube removed. Once esophageal tear was closed, patient was discharged on D5 postoperatively without further complications.