Clinical and experimental dermatology · 2025
Milestone events in recessive dystrophic epidermolysis bullosa: findings of the PEBLES study.
СтатьяНазвание и аннотация: Перевод в очереди
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Mellerio Jemima E, Pillay Elizabeth I, Sollesta Kathryn, Thiel Konstantin E, Zimmerman Georg, McGrath John A, Martinez Anna E, Jeffs Eunice
Аннотация
BACKGROUND: In recessive dystrophic epidermolysis bullosa (RDEB), complications like oesophageal strictures, hand contractures, cardiomyopathy and cutaneous squamous cell carcinoma (SCC) may develop. These complications necessitate procedures such as oesophageal dilatation (OD), gastrostomy tube placement and hand surgery.
OBJECTIVES: To determine the prevalence and age of onset of milestone events by RDEB subtype, specifically dysphagia, first OD, first gastrostomy tube, first hand surgery, cardiomyopathy, first SCC and death.
METHODS: The Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES) is a register study of individuals with RDEB that records comprehensive EB- and non-EB-related health information. Age of onset and prevalence of milestone events were analysed in the full cohort with all RDEB subtypes and by RDEB subtype.
RESULTS: Dysphagia occurred in 85% of the 62 total participants, including all with the severe (RDEB-S) and inversa (RDEB-Inv) subtypes. OD was also frequent, in 69% overall (92% RDEB-S, 89% RDEB-Inv). All events were most frequent and occurred earliest in RDEB-S (except cardiomyopathy), with a median age of dysphagia, OD and gastrostomy tube placement in the first decade. Frequent and early dysphagia and OD in RDEB-Inv may suggest this subtype before characteristic flexural skin changes manifest. Of the participants with RDEB-S, 35% had a first SCC at a median age of 27.8 years. Seven participants died during the 10-year study; the median age for the six with RDEB-S was 36 years, and causes included sepsis, metastatic SCC and complications of refeeding syndrome.
CONCLUSIONS: Our results detail the frequency and prevalence of important milestone events by RDEB subtype, informing prognostication, increasing understanding of the natural history of RDEB to help inform study endpoints, and potentially serving as proxy control data for future clinical trials.
OBJECTIVES: To determine the prevalence and age of onset of milestone events by RDEB subtype, specifically dysphagia, first OD, first gastrostomy tube, first hand surgery, cardiomyopathy, first SCC and death.
METHODS: The Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES) is a register study of individuals with RDEB that records comprehensive EB- and non-EB-related health information. Age of onset and prevalence of milestone events were analysed in the full cohort with all RDEB subtypes and by RDEB subtype.
RESULTS: Dysphagia occurred in 85% of the 62 total participants, including all with the severe (RDEB-S) and inversa (RDEB-Inv) subtypes. OD was also frequent, in 69% overall (92% RDEB-S, 89% RDEB-Inv). All events were most frequent and occurred earliest in RDEB-S (except cardiomyopathy), with a median age of dysphagia, OD and gastrostomy tube placement in the first decade. Frequent and early dysphagia and OD in RDEB-Inv may suggest this subtype before characteristic flexural skin changes manifest. Of the participants with RDEB-S, 35% had a first SCC at a median age of 27.8 years. Seven participants died during the 10-year study; the median age for the six with RDEB-S was 36 years, and causes included sepsis, metastatic SCC and complications of refeeding syndrome.
CONCLUSIONS: Our results detail the frequency and prevalence of important milestone events by RDEB subtype, informing prognostication, increasing understanding of the natural history of RDEB to help inform study endpoints, and potentially serving as proxy control data for future clinical trials.