目的:99%以上的神经纤维瘤病1型个体发展为皮肤神经纤维瘤,表现为皮肤结节的良性神经鞘瘤。这些皮肤神经纤维瘤随着年龄的增长而出现,最常见于青春期。然而,关于神经纤维瘤病1型青少年对皮肤神经纤维瘤的感觉的数据很少。这项研究的目的是评估青少年神经纤维瘤病1及其护理人员对皮肤神经纤维瘤发病率的看法。治疗方案,和可接受的风险-治疗的好处。
方法:通过世界上最大的NF注册中心发布了一项在线调查。合格标准包括自我报告的神经纤维瘤病1诊断,12-17岁的青少年,≥1个皮肤神经纤维瘤,和阅读英语的能力。这项调查旨在收集青少年皮肤神经纤维瘤的细节,对皮肤神经纤维瘤相关发病率的看法,皮肤神经纤维瘤的社会和情感影响,关于皮肤神经纤维瘤的沟通,以及关于当前和潜在未来皮肤神经纤维瘤治疗的观点。
结果:调查对象包括28名青少年和32名护理人员。青少年报告对皮肤神经纤维瘤有一些负面情绪,特别担心他们的皮肤神经纤维瘤的潜在进展(50%)。瘙痒(34%),位置(34%),外观(31%),数量(31%)是最麻烦的皮肤神经纤维瘤特征。局部用药(77%-96%),其次是口服药物(54%-93%),是最优选的治疗方式。青少年和护理人员最常回答,当皮肤神经纤维瘤变得麻烦时,应开始皮肤神经纤维瘤治疗。大多数受访者愿意治疗皮肤神经纤维瘤至少1年(64%-75%)。作为皮肤神经纤维瘤治疗副作用,青少年和护理人员最不愿意冒疼痛(72%-78%)和恶心/呕吐(59%-81%)的风险。
结论:这些数据表明,患有神经纤维瘤病1的青少年受到皮肤神经纤维瘤的负面影响,青少年和他们的照顾者都愿意尝试更长期的实验性治疗。
More than 99% of individuals with neurofibromatosis 1 develop cutaneous neurofibromas, benign nerve sheath tumors that manifest as nodules on the skin. These cutaneous neurofibromas emerge with age, appearing most commonly in adolescence. Nevertheless, few data have been published on how adolescents with neurofibromatosis 1 feel about cutaneous neurofibromas. The purpose of this study was to assess the perspectives of adolescents with neurofibromatosis 1 and their caregivers regarding cutaneous neurofibroma morbidity, treatment options, and acceptable risks-benefits of treatment.
An online survey was distributed through the world\'s largest NF registry. Eligibility criteria included self-reported neurofibromatosis 1 diagnosis, adolescent child ages 12-17 years, ≥1 cutaneous neurofibroma, and ability to read English. The survey was designed to collect details about the adolescent\'s cutaneous neurofibromas, views on morbidity related to cutaneous neurofibromas, social and emotional impact of cutaneous neurofibromas, communication regarding cutaneous neurofibromas, and views regarding current and potential future cutaneous neurofibroma treatment.
Survey respondents included 28 adolescents and 32 caregivers. Adolescents reported having several negative feelings about cutaneous neurofibromas, particularly feeling worried about the potential progression of their cutaneous neurofibromas (50%). Pruritus (34%), location (34%), appearance (31%), and number (31%) were the most bothersome cutaneous neurofibroma features. Topical medication (77%-96%), followed by oral medication (54%-93%), was the most preferred treatment modality. Adolescents and caregivers most often replied that cutaneous neurofibroma treatment should be initiated when cutaneous neurofibromas become bothersome. The majority of respondents were willing to treat cutaneous neurofibromas for at least 1 year (64%-75%). Adolescent and caregivers were least willing to risk pain (72%-78%) and nausea/vomiting (59%-81%) as a cutaneous neurofibroma treatment side effect.
These data indicate that adolescents with neurofibromatosis 1 are negatively impacted by their cutaneous neurofibromas, and that both adolescents and their caregivers would be willing to try longer-term experimental treatments.