Management of oesophageal strictures in inherited epidermolysis bullosa: a clinical practice guideline

Inherited epidermolysis bullosa (EB) is a group of rare and complex genetic disorders characterized by fragility of the skin and mucous membranes. Specifically, the gastrointestinal tract is commonly involved with a range of complications, one of the most disabling being oesophageal strictures (OS). OS manifest with progressive dysphagia, which in turn contributes to malnutrition, chronic anaemia and growth delay, with high impact on the quality of life of patients and their families. DEBRA International has supported the development of clinical practice guidelines (CPGs) for different aspects of EB care. The present CPG aims to provide healthcare professionals and affected individuals and their caregivers with recommendations on diagnostic procedures, preventive measures and treatment of OS. An international multidisciplinary panel comprising clinical experts and patient and public involvement (PPI) representatives developed the CPG, following an international PPI survey and literature review. The GRADE methodology was adopted to define PICO (population, intervention, comparison, outcome) questions, implement a literature appraisal process and prepare recommendations. Three recommendations are focused on OS diagnosis, and seven on preventive nonpharmacological (diet, oral care and therapeutic education) and pharmacological measures (topical corticosteroids) and treatment procedures. Treatment focuses particularly on oesophageal dilatation and how to delay and manage disease relapses. It is expected that this CPG will contribute to improving the quality and equity of care for individuals affected with EB, and will hopefully foster clinical research to increase evidence, in particular on noninvasive OS treatment to prevent complications and delay relapses.

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Publication Details

Journal
British Journal of Dermatology
Published
2025-05-20
DOI
https://doi.org/10.1093/bjd/ljaf191
Citations
2
Primary Topic
Autoimmune Bullous Skin Diseases
Type
article
Field-Weighted Citation Impact
2.94

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article

Management of oesophageal strictures in inherited epidermolysis bullosa: a clinical practice guideline

Αθανάσιος Διαμαντόπουλος, Tamara Caldaro, L. Brains, Giovanna Zambruno et al.
2 citations
British Journal of Dermatology
Autoimmune Bullous Skin Diseases
2.94
article

Management of oesophageal strictures in inherited epidermolysis bullosa: a clinical practice guideline

Αθανάσιος Διαμαντόπουλος, Tamara Caldaro, L. Brains, Giovanna Zambruno, Peter Tagkalidis, Anna E. Martinez, Paola De Angelis, James A. Feinstein, Anna Carolina Ferreira da Rocha, Rosie Jones, Maria L Bageta, Irene Lara‐Corrales, Christine Bodemer, K. M. Mayre‐Chilton, Elena Pope, Claudia Russo, May El Hachem, J. D. Heaton, Simon Prosser McGuirk
article en
2 citations

Abstract

Inherited epidermolysis bullosa (EB) is a group of rare and complex genetic disorders characterized by fragility of the skin and mucous membranes. Specifically, the gastrointestinal tract is commonly involved with a range of complications, one of the most disabling being oesophageal strictures (OS). OS manifest with progressive dysphagia, which in turn contributes to malnutrition, chronic anaemia and growth delay, with high impact on the quality of life of patients and their families. DEBRA International has supported the development of clinical practice guidelines (CPGs) for different aspects of EB care. The present CPG aims to provide healthcare professionals and affected individuals and their caregivers with recommendations on diagnostic procedures, preventive measures and treatment of OS. An international multidisciplinary panel comprising clinical experts and patient and public involvement (PPI) representatives developed the CPG, following an international PPI survey and literature review. The GRADE methodology was adopted to define PICO (population, intervention, comparison, outcome) questions, implement a literature appraisal process and prepare recommendations. Three recommendations are focused on OS diagnosis, and seven on preventive nonpharmacological (diet, oral care and therapeutic education) and pharmacological measures (topical corticosteroids) and treatment procedures. Treatment focuses particularly on oesophageal dilatation and how to delay and manage disease relapses. It is expected that this CPG will contribute to improving the quality and equity of care for individuals affected with EB, and will hopefully foster clinical research to increase evidence, in particular on noninvasive OS treatment to prevent complications and delay relapses.

British Journal of DermatologyVol. 193(3)
University of Wolverhampton (GB), The Royal Melbourne Hospital (AU), St Thomas' Hospital (GB), King's College London (GB), University of Milan (IT), Guy's and St Thomas' NHS Foundation Trust (GB), Université Paris Cité (FR), Great Ormond Street Hospital for Children NHS Foundation Trust (GB), Hospital for Sick Children (CA), Iloilo Mission Hospital (PH), Institut Necker Enfants Malades (FR), Cabrini Hospital (AU), Assistance Publique – Hôpitaux de Paris (FR), Children's Hospital Foundation (US), St. Thomas Hospital (CA), Bambino Gesù Children's Hospital (IT), Dystrophic Epidermolysis Bullosa Research Association of America (US), Birmingham Women’s and Children’s NHS Foundation Trust (GB), University of Colorado Denver (US)
Ospedale Pediatrico Bambino Gesù, Ministero della Salute, Debra International
Zero hunger
Openalex Percentile: Top 10%
Autoimmune Bullous Skin Diseases
2.94
DOIOpen Access PDFOpenAlex
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