Resumo A epidermólise bolhosa (EB) representa um grupo de doenças congénitas causadas por mutações em genes que codificam proteínas estruturais da pele. O carcinoma espinocelular (CEC) é uma das suas complicações mais temidas, sendo a principal causa de morte nalguns subtipos de EB. Apresenta-se o caso de uma doente de 38 anos com EB distrófica recessiva, que foi submetida a eletroquimioterapia (EQT) para o tratamento de um CEC no pé direito. Foram realizadas duas sessões de tratamento, com administração endovenosa de bleomicina seguida da aplicação de pulsos elétricos. Verificou-se uma resposta parcial às 8 semanas de follow-up e resposta completa às 24 semanas. A EQT é um tratamento local para tumores cutâneos e subcutâneos, primeiramente como modalidade paliativa em metástases. Estudos demonstram a sua eficácia no tratamento de tumores cutâneos primários irressecáveis, pelas suas dimensões ou localização, tendo sido proposta como modalidade terapêutica nos CECs na EB, com boa resposta global.

Abstract Epidermolysis bullosa (EB) represents a group of congenital disorders caused by mutations in skin structural proteins. Squamous cell carcinoma (SCC) is one major complication and the leading cause of death of several subtypes of EB. We report a case of a 38-year-old female patient with recessive dystrophic EB that underwent electrochemotherapy (ECT) for treatment of cutaneous SCC in the right foot. Two sessions were performed, in which the intravenous administration of bleomycin was followed by the local application of electric pulses. We verified a partial response in 8th week of follow up and a complete response in the 24th week. ECT is a local treatment for cutaneous and subcutaneous tumors, mainly as palliative care for metastases. Studies have shown its effectiveness in primary tumors that are unresectable due to size and location, and it has been proposed as a new treatment modality for SCCs in EB with high overall response.

Abstract Background: The treatment of advanced periocular basal cell carcinomas becomes a challenge as surgery may involve highly mutilating procedures. Vismodegib is the first selective hedgehog inhibitor approved for the treatment of locally advanced tumors or metastatic disease. Objective: Analyze the results of treatment with vismodegib for advanced periocular basal cell carcinomas in a real-life setting of a reference center between 2014 and 2020. Methods: Retrospective longitudinal study. The patient’s demographic profile, comorbidities, tumor characteristics, and treatment outcomes were analyzed. Results: A total of 13 patients were included. Median follow-up and treatment duration were 15.9 and 10.5 months, respectively. Objective clinical response rate was 76.9%: 30.8% had a complete response and 46.2% a partial response. The median duration of response was 13 months. Progressive disease was observed in 38.5% of cases, with a median of 19 months after the beginning of treatment. Eighty-four percent of the patients had at least one adverse event, and 61.54% needed to interrupt treatment temporarily or permanently to increase tolerability. Study limitations: Being a retrospective study in a real-life setting, the evaluation of objective clinical response was subjective to physician appreciation. Conclusion: Vismodegib is a safe and effective treatment for locally advanced basal cell carcinoma. To prevent recurrences, the drug should be used continually when tolerated. The role of neoadjuvant vismodegib before surgery is being investigated and might add an important step in searching for a definitive treatment for these cases.