Dance Brieana, Dardare Alice, Fleming Jane, Siow Sue-Faye, Schlub Timothy E, Crawford Hilda, Saunderson Rebecca B, Wong Claire, Berman Yemima
Department of Clinical Genetics, Northern Sydney Local Health District, Sydney, New South Wales, Australia.
Northern Clinical School, Faculty of Health and Medicine, University of Sydney, Sydney, New South Wales, Australia.
J Dermatol. 2024 Aug;51(8):1050-1059. doi: 10.1111/1346-8138.17276. Epub 2024 Jun 24.
The skin manifestations of neurofibromatosis 1 significantly reduce health-related quality-of-life. However, data on the utility of existing surveys in capturing neurofibromatosis 1 skin treatment outcomes are lacking. This quantitative study examined the relationship between clinician-rated severity and visibility and patient-rated itch and quality-of-life (QoL) to (1) establish baseline levels of skin- and condition-specific-related QoL, itch, depression and anxiety; (2) identify patient concerns to inform the development and evaluation of skin interventions; and (3) compare the sensitivity of different QoL measures. Validated scales included Skindex-29, Dermatology Life Quality Index (DLQI), Neurofibromatosis 1-adult quality-of-life (NF1-AdQOL) questionnaire, and the Hospital Anxiety and Depression Scale (HADS). We recruited 100 participants (response rate: 95%). Of these, 42% reported itch and 23% had probable clinical anxiety. Our cohort had higher levels of anxiety and total HADS scores compared to a control population. Using multivariate regression analysis, increasing visibility significantly predicted poorer QoL using the Skindex-29, NF1-AdQOL, and DLQI (p < 0.05); and itch significantly predicted worse QoL in Skindex-29 and NF1-AdQOL (p < 0.05). The highest mean scoring questions in Skindex-29 and NF1-AdQOL concerned worry about worsening skin disease and embarrassment. The highest mean scoring questions in DLQI were regarding itch, pain, and embarrassment. Items asking specifically about cutaneous neurofibromas (cNF) scored higher than comparable skin-specific questions (t-test p value <0.05). In summary, this study provides insights into the factors contributing to impaired QoL, anxiety, and mood in NF1 patients with cutaneous neurofibromas. Key factors identified for use in cNF measures include visibility, itch, anxiety, embarrassment, fears of worsening skin disease, and cNF-specific questions.
1型神经纤维瘤病的皮肤表现显著降低了与健康相关的生活质量。然而，关于现有调查在获取1型神经纤维瘤病皮肤治疗结果方面的效用的数据却很缺乏。这项定量研究考察了临床医生评定的严重程度和可见度与患者评定的瘙痒及生活质量（QoL）之间的关系，以（1）确定皮肤及疾病特异性相关生活质量、瘙痒、抑郁和焦虑的基线水平；（2）识别患者的担忧，为皮肤干预措施的开发和评估提供依据；（3）比较不同生活质量测量方法的敏感性。经过验证的量表包括Skindex-29、皮肤病生活质量指数（DLQI）、1型神经纤维瘤病成人生活质量（NF1-AdQOL）问卷以及医院焦虑抑郁量表（HADS）。我们招募了100名参与者（应答率：95%）。其中，42%的人报告有瘙痒，23%的人可能患有临床焦虑症。与对照人群相比，我们的队列有更高水平的焦虑和更高的HADS总分。使用多元回归分析，可见度增加显著预示着使用Skindex-29、NF1-AdQOL和DLQI时生活质量更差（p < 0.05）；瘙痒显著预示着Skindex-29和NF1-AdQOL中更差的生活质量（p < 0.05）。Skindex-29和NF1-AdQOL中平均得分最高的问题涉及对皮肤病恶化的担忧和尴尬。DLQI中平均得分最高的问题是关于瘙痒、疼痛和尴尬。专门询问皮肤神经纤维瘤（cNF）的项目得分高于类似的皮肤特异性问题（t检验p值<0.05）。总之，本研究深入探讨了导致患有皮肤神经纤维瘤的1型神经纤维瘤病患者生活质量受损、焦虑和情绪问题的因素。确定用于cNF测量的关键因素包括可见度、瘙痒、焦虑、尴尬、对皮肤病恶化的恐惧以及cNF特异性问题。
