Boggarapu Sreedevi, Rushing Gabrielle, Pounders Ashley, Roberds Steven L, Beresford Eric
Nobelpharma America, LLC. 3, 4520 East-West Highway, Suite 400, Bethesda, MD, 20814, USA.
TSC Alliance, Silver Spring, MD, USA.
Orphanet J Rare Dis. 2025 Aug 25;20(1):455. doi: 10.1186/s13023-025-03653-z.
This analysis was aimed to characterize cutaneous manifestations associated with tuberous sclerosis complex (TSC) and management of facial angiofibroma in the United States from a patient/caregiver perspective. Data was collected from an international survey of TSC Alliance conducted during May-June 2017 by distributing a link to patients/caregivers through various channels including social media.
Of the 418 caregivers and 133 patients, 336 (80.0%) caregivers and 98 (73.7%) patients reported cutaneous manifestations. Increased incidence in cutaneous manifestations was observed with age with the highest incidence in the age group spanning 27-45 years. More than half of the responders reported minor, moderate or major changes to their lifestyle because of the impact of cutaneous manifestations on the quality of life. The presence of other TSC-related manifestations studied in this survey (epilepsy, non-malignant brain tumours, developmental delay, learning or memory issues, kidney issues, communication issues, behavioural issues, sleep problems, anxiety or depression, heart issues, eye issues, dental issues, bone or skeletal issues, lung issues, and liver or pancreatic issues) was significantly higher in patients with cutaneous manifestations. Surgical removal was reported by 28.6% caregivers and 61.2% patients. Compounded topical rapamycin use for the management of facial angiofibroma was reported by 31.3% caregivers/23.5% patients, out of whom, improvement in skin condition was reported by 64.8% caregivers/69.6% patients. Overall, 82.9% of caregivers and 73.9% patients reported improvement as moderately effective or very effective.
In patients with cutaneous manifestations, a higher frequency of other TSC manifestations was observed. Presence of cutaneous manifestations impacted the quality of life of more than half of the responders. Surgical removal of cutaneous manifestations and compounded topical rapamycin treatment for the management of facial angiofibroma were reported. Compounded topical rapamycin use for the management of facial angiofibroma was reported as moderately effective or very effective by most of the responders.
本分析旨在从患者/护理人员的角度，描述与结节性硬化症（TSC）相关的皮肤表现以及美国面部血管纤维瘤的管理情况。数据收集自2017年5月至6月TSC联盟开展的一项国际调查，通过包括社交媒体在内的各种渠道向患者/护理人员分发链接。
在418名护理人员和133名患者中，336名（80.0%）护理人员和98名（73.7%）患者报告有皮肤表现。皮肤表现的发病率随年龄增长而增加，在27至45岁年龄组中发病率最高。超过一半的受访者报告称，由于皮肤表现对生活质量的影响，他们的生活方式有轻微、中度或重大改变。在本次调查中研究的其他与TSC相关的表现（癫痫、非恶性脑肿瘤、发育迟缓、学习或记忆问题、肾脏问题、沟通问题、行为问题、睡眠问题、焦虑或抑郁、心脏问题、眼部问题、牙齿问题、骨骼问题、肺部问题以及肝脏或胰腺问题）在有皮肤表现的患者中显著更高。28.6%的护理人员和61.2%的患者报告进行了手术切除。31.3%的护理人员/23.5%的患者报告使用复合外用雷帕霉素治疗面部血管纤维瘤，其中64.8%的护理人员/69.6%的患者报告皮肤状况有所改善。总体而言，82.9%的护理人员和73.9%的患者报告改善为中度有效或非常有效。
在有皮肤表现的患者中，观察到其他TSC表现的频率更高。皮肤表现的存在影响了超过一半受访者的生活质量。报告了皮肤表现的手术切除以及用于治疗面部血管纤维瘤的复合外用雷帕霉素治疗。大多数受访者报告使用复合外用雷帕霉素治疗面部血管纤维瘤为中度有效或非常有效。
