Sloughing of esophageal lining in children with dystrophic EB needs immediate expert care

Key takeaways:

• Coughing episodes, hematemesis, vomiting and choking are common disease manifestations.
• Treat with medical management first followed by gastrostomy insertions if necessary.

The management of dystrophic epidermolysis bullosa — the most severe type of this rare condition — requires a timely clinical response and life-saving procedures, according to a study.

“Inherited epidermolysis bullosa (EB) comprises a heterogeneous group of genodermatoses characterized by skin and mucosal fragility following minimal mechanical trauma with disruption at the dermoepidermal junction,” Maria Laura Bageta, MD, of the dermatology department at Great Ormond Street Hospital NHS Foundation Trust in London, and colleagues wrote. “Dystrophic EB (DEB) is one of the most severe types and the estimated incidence in the U.K. is 26.1 per million live births.”

According to the researchers, this disease commonly affects the gastrointestinal tract with dysphagia and esophageal strictures occurring in most patients with recessive DEB and other types of EB. The researchers further wrote that timely clinical management is essential to preventing DEB-related complications and improving symptoms.

Data was collected from all living children with EB who were under the care of Great Ormond Street Hospital NHS Foundation Trust and had an acute episode of esophageal lining sloughing between 2008 and 2021.

Results showed that of 210 patients with EB, four had recessive DEB severe, one had recessive DEB intermediate and one had dominant DEB. The mean age at the time of the episode was 2.7 years, with all patients experiencing early-onset severe gastroesophageal reflux.

All six patients experienced a coughing episode, hematemesis and vomiting, whereas three also experienced choking. These clinical manifestations were also followed by coughing up part of the esophageal mucosal lining which appears as a string like tissue of variable length.

Four of the patients recovered with medical management only, which included dexamethasone, IV antibiotics, IV fluids, increased proton pump inhibitors dose and pain medication.

Two patients continued to have severe persistent dysphagia which was managed with gastrostomy insertions.

Before gastrostomy, one patient experienced aspiration pneumonia, but no signs of perforation. He was given dexamethasone and antibiotics intravenously, IV fluids and was kept with no oral intake. The dose of proton pump inhibitors was increased to 2 mg of daily lansoprazole. He also received pain medication with acetaminophen and ibuprofen.

After showing signs of ongoing aspiration, he then received the gastrostomy as well as a Nissen’s fundoplication to manage his severe reflux. Although severe dysphagia and GERD have continued, the patient has not had similar episodes in 13 years.

“We would also like to highlight the psychological impact that these episodes have on the patients as they become very anxious and scared to eat and, hence, the importance of

psychological support,” Bageta and colleagues concluded. “Expert multidisciplinary care is needed to manage this rare but extremely serious condition.”