隐性营养不良性大疱性表皮松解症 (RDEB) 是一种罕见的遗传性皮肤病，由 VII 型胶原基因 (COL7A1; 3p21.31) 突变引起。该基因的突变会导致功能改变或 VII 型胶原蛋白含量减少。 VII 胶原蛋白的这种改变会导致皮肤脆弱，轻伤时会出现病变且难以愈合。由于慢性伤口形成，皮肤鳞状细胞癌 (cSCC) 在 RDEB 患者中比一般人群更常见；它是发病的主要原因，并且经常被认为是这些患者的死亡原因。 RDEB 患者的 cSCC 治疗经验很少。我们报告了一名 19 岁女性患者，患有 RDBE 和无法手术的左臂局部晚期鳞状细胞癌。由于缺乏治疗选择，cemiplimab 治疗开始时剂量为 350 mg，每 3 周静脉注射一次。第二个治疗周期后观察到确认的临床反应，且无毒性。随访期间，患者临床反应显着，未出现自身免疫不良反应。这表明，cemiplimab 对于 RDEB 患者的 cSCC 具有良好的安全性，是一种有价值的治疗选择。

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic skin disease caused by mutations in the type VII collagen gene (COL7A1; 3p21.31). Mutations in this gene lead to an alteration in function or reduced amounts of collagen VII. This alteration of collagen VII leads to skin fragility and lesions at minor injuries with difficult healing. Cutaneous squamous cell carcinoma (cSCC) is more frequent in patients with RDEB than in the general population because of chronic wound formation; it constitutes a major cause of morbidity and is often cited as a cause of death for these patients. There is little experience with the treatment of cSCC in patients with RDEB. We report the case of a 19-year-old female patient with RDBE and inoperable locally advanced cSCC of the left arm. Because of the lack of therapy options, therapy with cemiplimab was started at a dose of 350 mg administered intravenously every 3 weeks. A confirmed clinical response was observed after the second cycle of treatment with no toxicity. During follow-up, the patient had a notable clinical response with no auto-immune adverse reactions. This shows that cemiplimab has a good safety profile for cSCC in patients with RDEB and is a valuable therapy option.