Abstract

Recessive dystrophic epidermolysis bullosa (RDEB) results from mutations in the COL7A1 gene for type VII collagen. Affected patients demonstrate skin fragility and blistering with scarring. Associated morbidity is great, and there are limited therapeutic options. Fractional carbon dioxide (CO2) ablative laser (FABL) treatments have been shown to promote collagen remodeling and demonstrate synergy with topical poly-l-lactic acid (PLLA) applications. We report the case of a young woman with RDEB who experienced decreased blistering, decreased healing time, and improved quality of life in a local skin area treated with FABL followed by topical PLLA. In comparing biopsy specimens from treated and untreated skin, improved collagen organization and collagen maturity were observed by histopathological examination including with Herovici staining. Moreover, type VII collagen, absent in untreated skin, was detected in treated affected skin by immunostaining. This report illustrates a treatment response to FABL and topical PLLA in a patient with RDEB including enhanced healing time, collagen remodeling, and type VII collagen expression. The findings are promising and, with further study, may have broader implications for treating this disorder.

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