AUTHOR=Xu Zhen , Huang Tianqiao , Pan Min , Huang Yichuan , Jiang Yan 

TITLE=Case Report: Recessive Dystrophic Epidermolysis Bullosa With Severe Esophageal Stenosis: A Case Report and Literature Review

JOURNAL=British Journal of Biomedical Science

VOLUME=Volume 79 - 2022

YEAR=2022

URL=https://www.frontierspartnerships.org/journals/british-journal-of-biomedical-science/articles/10.3389/bjbs.2022.10200

DOI=10.3389/bjbs.2022.10200

ISSN=2474-0896

ABSTRACT=Epidermolysis bullosa (EB) is a rare genetic disease that has no effective management or cure. Patients with EB may manifest with skin and mucous membrane fragility, blisters, erosions and scars. Based on the 2014 diagnosis and treatment guidelines, EB can be divided into four types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome. DEB usually affects the skin and nails at birth, which can be divided into two subtypes, namely the dominant dystrophic epidermolysis bullosa (DDEB) and recessive dystrophic epidermolysis bullosa (RDEB). Furthermore, based on different clinical features, RDEB has been classified into severe Hallopeau-Siemens type (RDEB-HS) or the milder form called RDEB-nHS. Patients with RDEB-HS have systemic lesions and scars on hands and feet, leading to finger fusion and severe mucosal involvement, while those with RDEB-nHS may have local or systemic mild dermatological manifestations, mostly without finger fusion and without the involvement of the extradermal organs. Here, we report the case of a male patient with severe esophageal stricture due to recessive dystrophic EB. Currently, there is no effective treatment for EB complicated with severe esophageal stricture, although esophageal dilation and gastrostomy may be attempted.