Review demonstrates severe dermal-epidermal detachment and elevated skin cancer risk in recessive dystrophic epidermolysis bullosa, highlighting critical consequences of COL7A1 deficiency.
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe hereditary blistering disorder characterized by fragility of the skin and mucous membranes due to mutations in the COL7A1 gene, which encodes type VII collagen, the principal component of anchoring fibrils1,2 (Figure 1A). Loss or dysfunction of type VII collagen leads to separation at the dermal-epidermal junction, resulting in chronic wounds, scarring, and progressive multisystem complications. RDEB is associated with substantial morbidity, including strictures in esophagus, pseudosyndactyly (fusion of fingers), nutritional impairment, and an exceptionally high lifetime risk of developing aggressive cutaneous squamous cell carcinoma (cSCC)1,2 (Figure 1A).
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Järvinen et al. (2026) studied this question.
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