Tran Vanessa, Robertson Susan J, Young Jamie, Hogg Malcolm, Thai Alesha A, Morgan Vanessa
Department of Dermatology, The Royal Melbourne Hospital, Parkville, Victoria, Australia.
Department of Medicine, University of Melbourne, Parkville, Victoria, Australia.
Case Rep Dermatol Med. 2025 Feb 26;2025:4558623. doi: 10.1155/crdm/4558623. eCollection 2025.
Recessive dystrophic epidermolysis bullosa (RDEB) belongs to a rare group of inherited dermatoses, which are characterised by mucosal and cutaneous fragility. Cutaneous squamous cell carcinoma (CSCC) is a common complication of RDEB. In the severe subtype of RDEB (RDEB-S), CSCC is observed in 90% of the patients by 55 years. CSCC in patients with RDEB follows an aggressive course with the median survival rate of 2.4 years. We report the case of a 51-year-old female with RDEB with recurrent aggressive CSCC of the right lateral-back. She was commenced on cemiplimab, an anti-programmed death receptor-1 (PD-1) antibody, for the management of unresectable locally advanced CSCC; however, she experienced a severe infusion reaction, manifested as back pain, requiring treatment cessation. Despite three incomplete doses, the patient demonstrated a marked response with significant regression of her tumours. Therefore, further treatment was pursued. She was successfully administered cemiplimab under intravenous sedation. This was later complicated by immune-related colitis, necessitating treatment cessation. The patient was transitioned to best supportive care. The patient required inpatient admission for end-of-life care due to her complex analgesia requirements. This case report explores the pathophysiological mechanisms of pain in RDEB and anti-PD-1 antibody therapy and highlights the unique challenges of pain management in RDEB patients.
隐性营养不良型大疱性表皮松解症(RDEB)属于一组罕见的遗传性皮肤病,其特征为黏膜和皮肤脆弱。皮肤鳞状细胞癌(CSCC)是RDEB的常见并发症。在RDEB的严重亚型(RDEB-S)中,到55岁时,90%的患者会出现CSCC。RDEB患者的CSCC病情进展迅速,中位生存率为2.4年。我们报告了一例51岁患有RDEB的女性病例,其右后侧复发性侵袭性CSCC。她开始使用西米普利单抗(一种抗程序性死亡受体-1(PD-1)抗体)来治疗无法切除的局部晚期CSCC;然而,她出现了严重的输液反应,表现为背痛,需要停止治疗。尽管只注射了三剂未完成疗程的药物,但患者的肿瘤明显缩小,显示出显著疗效。因此,继续进行了进一步治疗。她在静脉镇静下成功接受了西米普利单抗治疗。随后出现了免疫相关的结肠炎并发症,需要停止治疗。该患者转而接受最佳支持治疗。由于其复杂的镇痛需求,患者需要住院接受临终关怀。本病例报告探讨了RDEB疼痛和抗PD-1抗体治疗的病理生理机制,并强调了RDEB患者疼痛管理的独特挑战。