Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Department of Dermatology, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Pediatr Dermatol. 2021 Sep;38(5):1198-1201. doi: 10.1111/pde.14802. Epub 2021 Sep 13.
Dystrophic epidermolysis bullosa is a debilitating skin condition, without curative treatment. Previous research has focused on the recessive variant, which is known to cause severe disease. Limited work focusing on the clinical manifestations and outcomes of dominant dystrophic epidermolysis bullosa is found (DDEB).
Analysis of an online survey of 42 DDEB patients.
Self-reported severity of disease did not correlate with size of the wound or number of dressing changes, but did correlate with severity of pain reported in the last 12 months (3.4 mild vs 6.8 severe disease, P = 0.0002). Patients with severe DDEB also reported more severe internal disease symptoms, such as difficulty swallowing (62.5%, P = 0.01) and greater analgesic use during dressing changes (4.4% mild vs 81.3% severe, P = <0.001).
Patient perception of disease severity in DDEB appears to be most impacted by pain, presence of chronic open wounds, difficulty swallowing, difficulty walking, and anal strictures. As research on DDEB increases, future studies focused on these symptoms might be the most impactful for DDEB patients. However, distinguishing DDEB from other subtypes remains a challenge.
营养不良型大疱性表皮松解症是一种使人衰弱的皮肤疾病，目前尚无治愈方法。以前的研究集中在隐性变异上，这种变异已知会导致严重的疾病。有限的工作集中在显性营养不良型大疱性表皮松解症（DDEB）的临床表现和结果上。
对 42 名 DDEB 患者的在线调查进行分析。
自我报告的疾病严重程度与伤口大小或更换敷料的次数无关，但与过去 12 个月报告的疼痛严重程度相关（3.4 分为轻度，6.8 分为重度，P=0.0002）。患有严重 DDEB 的患者还报告了更严重的内部疾病症状，如吞咽困难（62.5%，P=0.01）和在更换敷料时更频繁地使用止痛药（4.4%为轻度，81.3%为重度，P<0.001）。
DDEB 患者对疾病严重程度的感知似乎主要受疼痛、慢性开放性伤口、吞咽困难、行走困难和肛门狭窄的影响。随着对 DDEB 的研究增加，未来专注于这些症状的研究可能对 DDEB 患者最有影响。然而，区分 DDEB 与其他亚型仍然具有挑战性。
