Epidermolysis bullosa (EB) is a group of debilitating, genetic skin disorders characterized by excessive skin fragility, blistering, and ulcerations that cause a cyclical wound healing process. EB presents itself in various subtypes, such as EB simplex (EBS), junctional EB (JEB), dystrophic (DEB), and Kindler Syndrome (KS), which all differ in their genetic cause, severity, and harbor different causes of mortality. Of these variants, JEB and DEB are the most severe, with EBS being the mildest form of the disease and KS presenting in extremely rare cases. The JEB variant tends to cause mortality early on in children less than two years of age due to failure to thrive, sepsis from wound infections, and airway obstruction. In the recessive form of DEB (RDEB), cutaneous squamous cell carcinoma (cSCC) is the major cause of death in patients, with one study reporting a mere 4-year survival after the first EB-cSCC diagnosis. Cutaneous SCCs in the setting of RDEB are particularly concerning because they are often more aggressive and show greater metastatic potential, as compared to ultraviolet-induced SCCs. This review aims to explore the pathophysiology of these EB variants as well as their implications for developing cSCCs. It will also discuss elements of the clinical presentation of such lesions in EB patients and the challenges associated with making a definitive diagnosis. Additionally, we will illuminate various diagnostic techniques, current and future management and treatment strategies for both cSCC and EB, and the importance of early screening and education for patients with EB to maximize patient lifespan and quality of life.
大疱性表皮松解症（EB）是一组使人衰弱的遗传性皮肤病，其特征为皮肤过度脆弱、起泡和溃疡，导致伤口愈合过程循环发生。EB表现为多种亚型，如单纯型EB（EBS）、交界型EB（JEB）、营养不良型EB（DEB）及Kindler综合征（KS），这些亚型在遗传病因、严重程度及致死原因上均存在差异。其中JEB和DEB最为严重，EBS为最轻微类型，而KS则极为罕见。JEB亚型常因发育停滞、伤口感染引发的败血症及气道阻塞，导致两岁以下儿童早期死亡。在隐性遗传型DEB（RDEB）中，皮肤鳞状细胞癌（cSCC）是患者的主要死因，有研究显示首次确诊EB相关cSCC后患者平均生存期仅为4年。RDEB背景下的皮肤鳞癌尤其值得关注，因为与紫外线诱发的鳞癌相比，其侵袭性更强且转移潜能更高。本综述旨在探讨这些EB亚型的病理生理学机制及其与cSCC发生发展的关联，同时将讨论EB患者相关皮损的临床表现特点及明确诊断面临的挑战。此外，我们将阐述cSCC和EB的各种诊断技术、当前及未来的管理与治疗策略，并强调对EB患者进行早期筛查和健康教育对延长患者寿命、提高生活质量的重要意义。
肿瘤(癌症)患者之家