INTRODUCTION
Dominant dystrophic epidermolysis bullosa (DDEB) is a hereditary genetic disorder with a mutation of the type VII collagen gene (COL7A1), resulting in a defect of anchoring collagen VII (Col VII), which stabilizes dermal-epidermal adhesion.1 Consequently, patients with DDEB experience skin blisters and fragility. Most clinical consequences of DDEB result from delayed wound healing, aberrant skin remodeling, and chronic inflammation.2
Currently, clinical management for DDEB focuses on supportive treatment and trauma avoidance.1 Patients may undergo skin transplant or surgical repair of complications that develop from scarring following epidermal injury, such as mitten hand deformities.1 Biological treatments such as dupilumab have been studied for controlling itch in patients with pruritic subtypes of DDEB.3 Emerging treatments in gene and stem cell therapy show promise in clinical application, while new advancements in bioengineered skin substitutes promote local wound healing.1
We report a case of a patient with DDEB lesions of the lower extremity treated with gentian violet (GV), a small molecule with both anti-inflammatory and antibacterial properties, with trichloroacetic acid (TCA) to enhance GV penetration into cutaneous tissue.4 Over the course of 6 weeks, the patient's wounds demonstrated substantial healing, reepithelialization, and recovery.
Currently, clinical management for DDEB focuses on supportive treatment and trauma avoidance.1 Patients may undergo skin transplant or surgical repair of complications that develop from scarring following epidermal injury, such as mitten hand deformities.1 Biological treatments such as dupilumab have been studied for controlling itch in patients with pruritic subtypes of DDEB.3 Emerging treatments in gene and stem cell therapy show promise in clinical application, while new advancements in bioengineered skin substitutes promote local wound healing.1
We report a case of a patient with DDEB lesions of the lower extremity treated with gentian violet (GV), a small molecule with both anti-inflammatory and antibacterial properties, with trichloroacetic acid (TCA) to enhance GV penetration into cutaneous tissue.4 Over the course of 6 weeks, the patient's wounds demonstrated substantial healing, reepithelialization, and recovery.
CASE REPORT
Our patient, a 59-year-old woman, presented with eroded blisters on her right lower extremity. She was told she had a genetic blistering disease with lifelong effects, especially on the lower extremities. She had no family history of blistering disease. Prior to her office visit, she had treated her blisters and wounds with supportive measures, including dressings to reduce friction. Based upon the presence of scarring, location, and morphology of the blisters, and absence of family history, we felt that a diagnosis of a dominant dystrophic epidermolysis was likely. Genetic testing was performed to determine whether she would be eligible for gene therapy with Vyjuvek (beremagene geperpavec).
Genetic testing showed that the patient was heterozygous in the COL7A1 gene for a pathogenic c.6235G.A substitution, which has been reported in patients with DDEB, confirms the diagnosis.
Genetic testing showed that the patient was heterozygous in the COL7A1 gene for a pathogenic c.6235G.A substitution, which has been reported in patients with DDEB, confirms the diagnosis.
