がん臨床試験ジャーナル

Epidermolysis Bullosa is a rare heterogeneous group of diseases caused by mutations in various skin structural proteins characterized by varying degrees of skin fragility, blisters and impaired wound healing. It is classified based on the ultrastructural levels of skin cleavage-simplex, junctional, dystrophic and Kindler Syndrome. Recently, there has been considerable progress in the management of these patients, emphasizing a multidisciplinary approach. However, Squamous Cell Carcinoma (SCC) is still the most severe complication, with a cumulative risk of 90.1% by age 55. SCC is the most common cause of death in these patients, particularly in Recessive Dystrophic Epidermolysis Bullosa (RDEB).

To date, the first line of treatment is surgery, even though the risk of recurrence is still high, even with wide excisions with negative margins. Radiotherapy and systemic therapy have been avoided due to its skin toxicity, but it can still be an option as palliative therapy.

Recently, Electrochemotherapy (ECT) has been proposed as a potential treatment; however there is not enough date to support its efficiency.

We report five patients with SCC in RDEB who were treated with ECT using bleomycin intravenously. These patients were evaluated after four and eight weeks and all showed an objective response. Four patients had a complete response. The treatment was well tolerated, with mild adverse effects, such as local pain, oedema, and erythema and skin ulceration.

Our results demonstrate that ECT is a potential treatment for SCC in patients with RDEB. However, there is still not enough data to confirm its evidence.