Cutaneous manifestations-associated with tuberous sclerosis complex and the use of topical rapamycin in the United States: a sub-analysis of an international survey of caregivers and patients

Abstract Background 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. Results 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. Conclusions 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.