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Multicenter Study
. 2025 Nov 18;193(6):1204-1213.
doi: 10.1093/bjd/ljaf271.

Prevalence of kidney complications in a large cohort of patients with recessive dystrophic epidermolysis bullosa

Idris Boudhabhay  1   2   3 , Nathalia Bellon, Marina Avramescu, Pauline Bataille, Audrey Duval, Marion Rabant, Sylvain Bodard  3 , Melissa Ould-Rabah, Stéphanie Leclerc-Mercier, Olivia Boyer  3 , Hamza Sakhi, Guillaume Canaud  3 , Evangeline Pillebout, Smail Hadj-Rabia  3 , Emmanuelle Bourrat, Christine Bodemer  3
Affiliations
Multicenter Study

Prevalence of kidney complications in a large cohort of patients with recessive dystrophic epidermolysis bullosa

Idris Boudhabhay et al. Br J Dermatol. .

Abstract

Background: Renal manifestations in patients with recessive dystrophic epidermolysis bullosa (RDEB) due to collagen VII deficiency have been described only in case series and could thus be underestimated.

Objectives: To describe the prevalence and types of kidney disease in a large cohort of patients with RDEB.

Methods: We conducted a retrospective study in two Parisian reference centres for RDEB and included patients with at least two concurrent blood and urine analyses. Kidney disease was defined as either glomerular with elevated albumin or tubulointerstitial with elevated β2-microglobulin.

Results: We included 120 patients with a confirmed molecular diagnosis of RDEB characterized by collagen VII deficiency between 2005 and 2021, of whom 36 (30%) exhibited kidney disease. Of these, 15 (12.5%) displayed glomerular disease, most commonly due to IgA nephropathy, and 21 (17.5%) presented with a tubulointerstitial presentation, often associated with complex hydroelectrolytic disorders. The immunohistochemistry study with anticollagen VII antibody was positive on glomerular and tubular basement membranes in controls and negative in patients with complete collagen VII deficiency. In multivariate analysis, kidney disease was significantly associated with disease severity (P = 0.002). Overall survival was reduced in patients with RDEB with kidney complications. Based on these findings, we propose recommendations for the detection and monitoring of kidney disease in this patient population, with early referral to a nephrologist specifically on the identification of renal abnormalities.

Conclusions: Kidney disease is common, correlates with disease severity, and impacts the prognosis of patients with RDEB. Systematic screening is recommended in this population.

Plain language summary

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disease. It causes the skin to become very fragile. This results in severe blistering and scarring from minor injuries. Epidermolysis bullosa also affects other body parts, including the kidneys. In this study, we looked at the impact of RDEB on patients’ kidneys. We conducted our research in France, using data from two specialized centres in Paris. We aimed to find out how common kidney disease is in patients with RDEB. We then described the distinct types of kidney involvement they can experience. We reviewed the medical records of 120 patients with RDEB. We checked the patients’ blood and urine tests to detect and describe any kidney disease. Some patients with RDEB had a type of kidney disease that affects the blood-filtering units (called glomerular disease). Some had a different type, involving the kidney tubes, known as tubulointerstitial disease. We also found that patients with severe RDEB were more likely to show kidney involvement. Patients with kidney disease exhibited a higher risk of death during the study period. Kidney disease in patients with RDEB is a serious concern that can affect a person’s overall health and life expectancy. We recommend that clinicians check regularly for kidney involvement in people with RDEB. This is instrumental in detecting kidney disease early and can improve treatment and care. It is important to understand and treat such kidney problems. This can help people to better manage RDEB and potentially improve their quality of life.

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Conflict of interest statement

Conflicts of interest: None to declare.

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