Episode 45 - Inflammation in recessive dystrophic epidermolysis bullosa

In this episode of BJD Talks, Sam and Meera discuss the article ‘Systemic inflammation in recessive dystrophic epidermolysis bullosa: a 5-year longitudinal study’ by Karakioulaki et al. The full article can be accessed at https://doi.org/10.1093/bjd/ljag082

 *This podcast was generated by an AI tool created by 67Bricks for the British Association of Dermatologists*

Transcript

SPEAKER_01 0:00

Welcome to BJD Talks, the official podcast of the BJD. I'm Sam.

SPEAKER_00 0:04

And I'm Mira. In this episode, we will be discussing the article by Miropi Karakiulaki et al. Systemic Inflammation in Recessive Dystrophic Epidermolysis Bullosa, a five-year longitudinal study from March 2026 and included in the July 2026 issue.

SPEAKER_01 0:22

Recessive Dystrophic Epidermolysis bullosa, or RDEB, is a rare and complex genetic condition caused by mutations in the COL7A1 gene. This leads to a deficiency in collagen-7, critical for anchoring the dermis to the epidermis, resulting in fragile skin, chronic wounds, and serious systemic complications.

SPEAKER_00 0:43

Yes, and this study is fascinating because it maps systemic inflammation in RDEB over five years, involving 44 patients with both severe and intermediate forms of the condition. It provides insights into how inflammation progresses and influences clinical outcomes.

SPEAKER_01 1:01

What stands out is how early and intense inflammation begins in severe RDEB. For example, levels of C reactive protein are six times above normal as early as the first year of life, rising to 18 times the upper limit by mid-adulthood, before levelling off.

SPEAKER_00 1:18

Indeed, that contrasts starkly with intermediate RDEB, where inflammation markers remain largely stable and only rise modestly after the age of 30. It highlights two very distinct inflammatory pathways within the same disorder.

SPEAKER_01 1:33

The study examined factors driving inflammation such as wound burden, squamous cell carcinoma or SCC, and wound microbiology. For instance, pathogens like Pseudomonas and Streptococcus were strongly associated with elevated CRP and interleukin-6 levels.

SPEAKER_00 1:49

And on SCC, CRP levels and patient age emerged as independent predictors of risk. This highlights that systemic inflammation is not just a marker of disease severity, but could also create an environment conducive to tumor growth. These findings could aid early cancer detection in RDEB patients.

SPEAKER_01 2:10

The acute phase proteins, CRP, interleukin 6, and serum amyloid A, also correlated strongly with wound size. But it's not solely about wound surface area. The absence of collagen 7 amplifies inflammation. It's a complex interaction between biology and disease burden.

SPEAKER_00 2:28

Which brings us to treatment strategies. The authors suggest managing inflammation with systemic anti-inflammatory therapies, rigorously treating infections, particularly against bacteria like Pseudomonas, and reducing the wound burden through advanced therapies, such as gene or protein-based approaches.

SPEAKER_01 2:46

And nutritional support is crucial too. Chronic inflammation and persistent wounds raise metabolic demands, often resulting in anemia or malnutrition. Addressing these can significantly improve patients' quality of life.

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To sum up, this study provides a solid framework for understanding inflammation in RDEB. Severe cases are characterized by early onset, progressively worsening inflammation, whereas intermediate forms show a considerably milder course. Interventions tailored to these inflammatory patterns could genuinely transform outcomes for patients.