O05 Management of acute desloughing of the oesophageal lining in patients with dystrophic epidermolysis bullosa: a case series of six paediatric patients

Abstract

Abstract Dystrophic epidermolysis bullosa (DEB) is a subtype of inherited skin disorders characterized by skin and mucosal fragility due to collagen VII (COL7A1) gene mutations. Desloughing of the lining of the oesophagus has not been reported before. We retrospectively reviewed the hospital electronic patient records between 2008 and 2021 with regard to acute treatment and long-term management. Six patients with recessive DEB (RDEB) severe (n = 4), RDEB intermediate (n = 1) and dominant DEB (DDEB) were identified. The mean age at the time of the episode was 29.6 months. Most of the patients (n = 5) suffered from severe gastro-oesophageal reflux at the time of onset. Clinically, they presented with a coughing episode (n = 6), haematemesis (n = 6), vomiting (n = 6) and choking (n = 3) with a piece of mucosae coughed up. Four patients recovered with medical management including immediate hospitalization, no oral intake (nil by mouth, NBM), pain relief and optimization of the dose of proton-pump inhibitors. Due to severe persistent dysphagia, two patients required gastrostomy insertions for feeding; one also required a Nissen's fundoplication due to severe reflux. One patient had an aspiration pneumonia. Desloughing of varying lengths of segments of the oesophagus is an emergency. The lining coughed up needs to be cut at the mouth not pulled and the emergency services called immediately. On arrival, an urgent assessment and chest X-ray should be performed to rule out any signs of perforation. The patient should be kept NBM with intravenous fluids and pain relief. Expert multidisciplinary care is needed to manage this rare but extremely serious condition.