한국인 열성 이영양형 수포성 표피박리증 환자의 임상 경과 및 장기 예후에 대한 후향적 단일기관 종단 연구

Abstract

Background: Recessive dystrophic epidermolysis bullosa (RDEB) manifests in various cutaneous and extracutaneous complications that lead to considerable morbidity and mortality, however, no precise incidence data are available. Objective: To investigate the prevalence of inherited epidermolysis bullosa (EB) stratified by subtypes, demographics, and clinical characteristics in Korean patients with EB, and major clinical events and outcomes in Korean RDEB patients. Methods: A total of 179 patients diagnosed with EB at a single tertiary hospital between January 2005 and January 2020 were retrospectively analyzed. Results: Among the 179 patients, 86 (48.0%) had EB simplex, 45 (25.1%) had dominant dystrophic EB, 38 (21.2%) had RDEB, and 10 (5.6%) had juncttional EB. Symptoms of the disease were present at age 1 year in 38 patients with RDEB (100%), 10 with junctional EB (100%), 41 with dominant dystrophic EB (91.1%), and 63 with EB simplex (73.3%). Among the 38 patients with RDEB, 20 (52.6%) had anemia, 21 (55.3%) had pseudosyndactyly, 9 (23.7%) had cardiac disorder (23.7%) (e.g., dilated cardiomyopathy), 9 (23.7%) had ophthalmic disorders, 11 (28.9%) had methicillin-resistant Staphylococcus aureus skin infection, 7 (18.4%) had esophageal stricture, and 4 (10.5%) developed squamous cell carcinoma at a mean age of 46.7 years. Seventeen subjects (44.7%) underwent hand/foot surgery at a mean age of 6.6 years. Six subjects (15.8%) underwent esophageal dilation at a mean age of 23 years. Five patients (13.2%) died. Conclusion: RDEB affects multiple organ systems and requires a multidisciplinary therapeutic approach. Understanding the incidence and outcomes of milestone clinical events is crucial for optimal management of RDEB patients. (Korean J Dermatol 2022;60(1):7∼15)