Creating a guideline for clinicians who treat tightening of the oesophagus in EB

• Primary Researcher: Dr May El Hachem and Dr Paola De Angelis
• Institution: Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
• Type of EB: RDEB
• Funding amount: €33,405
• Project length: 2.5 years

Due in 2024

Dr. May El Hachem is the Head of the Complex Structure of the Dermatology Unit at Bambino Gesù Pediatric Hospital, IRCCS, in Rome. She coordinates both the Regional Reference Center for Rare Skin Diseases and the Regional Reference Center for Rare Vascular Anomalies. Additionally, she serves as a Dermatologist for the Directorate of Health and Hygiene in Vatican City State.

Dr. El Hachem is a member of several international dermatology task forces and is the President of the Scientific Committee of the Rare Skin Diseases Network and the Italian Society for the Study of Vascular Anomalies (SISAV) Pediatrics. Her expertise in pediatric and rare dermatological conditions makes her a leading figure in the field.

Grant title: Diagnosis and management of Oesophageal strictures in EB patient

Oesophageal strictures are one of most common and serious complications of inherited epidermolysis bullosa (EB), in particular the severe, inverse and intermediate subtypes of recessive dystrophic epidermolysis bullosa (RDEB) and Kindler EB. Oesophageal strictures cause dysphagia and odynophagia, leading to restricted food and drug intake and thus contributing to poor nutritional status.

Both oesophageal symptoms and complications significantly worsen the quality of life of EB patients. Strictures develop more frequently in the cervical oesophagus (the upper third part of the oesophagus), and may be solitary or multiple.

The incidence of strictures increases with age, with major differences among various EB subtypes (e.g. they develop by age 10 years in severe RDEB, and later in Kindler EB).

Treatment options include at first dietary recommendations (e.g. avoiding hard and hot food) and medical therapy for pain and gastroesophageal reflux disease, but are usually insufficient to counteract disease progression. Subsequent treatments comprise oesophageal dilation, gastrostomy, or, very rarely, surgery: the choice depends on patient’s conditions and on country/center specificities.

Oesophageal dilation is at present considered the first line treatment for strictures unresponsive to medical therapy. Recent retrospective studies have compared the outcome of different dilation techniques, their specific complications, and the recurrence rate in EB patients.

Together with the existing general guidelines on oesophageal dilation and previous literature in the field, this evidence is crucial to support the development of a clinical practice guideline (CPG) for diagnosis and management of oesophageal strictures in paediatric and adult EB patients (all @subtypes).

This guideline will not specifically address management of gastroesophageal reflux disease (GERD). In the literature, there are a number of regularly updated guidelines from National/International societies on GERD management both in children and adults (some are listed at point 1b of the application), which can be tailored to EB patients. A short chapter on GERD in EB will be included in this CPG.

This CPG will represent a useful tool for health care professionals involved in EB care, optimizing the management of oesophageal strictures. The expected outcome of this

Due in 2025