Background: In recessive dystrophic epidermolysis bullosa (RDEB), complications like oesophageal strictures, hand contractures, cardiomyopathy and cutaneous squamous cell carcinoma (SCC) may develop, necessitating procedures such as oesophageal dilatation (OD), gastrostomy tube placement and hand surgery.

Objectives: To determine 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 which records comprehensive EB- and non-EB-related health information. Age of onset and prevalence of milestone events was analysed as all RDEB and by RDEB subtype.

Results: Dysphagia occurred in 89% of 62 total participants including all with severe (RDEB-S) and inversa (RDEB-Inv) subtypes, and 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 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. Thirty-five percent of RDEB-S participants had a first SCC at median age 27.8 years. Seven participants died in the 10-year study; median age for the 6 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 RDEB natural history to help inform study endpoints, and potentially serving as proxy control data for future clinical trials.

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Source
http://dx.doi.org/10.1093/ced/llaf009DOI Listing

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