The University of Arizona College of Medicine Phoenix, Phoenix, Arizona, USA.
The University of Arizona College of Medicine Phoenix, Phoenix, Arizona, USA
BMJ Case Rep. 2021 Feb 26;14(2):e238966. doi: 10.1136/bcr-2020-238966.
Recessive dystrophic epidermolysis bullosa (RDEB) is a multisystem inherited disorder associated with fragile skin, blister formation and poor wound healing. Patients with RDEB are at significantly increased risk of recurrent and aggressive cutaneous squamous cell carcinoma (cSCC) and because of their disease complexity, conventional therapies may not be possible. Recent advances in cancer immunotherapy have led to the successful use of immune checkpoint inhibitors (ICIs) in melanoma and other malignancies. However, the effects of ICIs in patients with cSCC and RDEB are currently unknown. A 30-year-old woman with RDEB and multiple unresectable cSCCs was found to have high tumour mutational burden and PD-L1 (programmed cell death-ligand 1) expression. She was started on an ICI, which yielded disease control and was well tolerated. Furthermore, her RDEB wounds improved. This case demonstrates successful use of immunotherapy for advanced cSCC in RDEB, a disease that is often challenging to treat with local therapies.
隐性营养不良型大疱性表皮松解症（RDEB）是一种多系统遗传性疾病，其特征为皮肤脆弱、水疱形成和伤口愈合不良。RDEB 患者发生复发性侵袭性皮肤鳞状细胞癌（cSCC）的风险显著增加，且由于疾病的复杂性，常规疗法可能无法实施。癌症免疫疗法的最新进展已成功将免疫检查点抑制剂（ICI）应用于黑色素瘤和其他恶性肿瘤。然而，ICI 在 cSCC 和 RDEB 患者中的作用目前尚不清楚。一名 30 岁女性患有 RDEB 和多处无法切除的 cSCC，其肿瘤突变负担高且 PD-L1（程序性死亡配体 1）表达阳性。她开始接受 ICI 治疗，疾病得到控制且耐受良好。此外，她的 RDEB 伤口也得到改善。该病例表明，ICI 可成功用于治疗 RDEB 中的晚期 cSCC，对于这种疾病，局部治疗往往具有挑战性。
