Background. Facial
angiofibromas affect most patients with
tuberous sclerosis complex. They tend to progress, can cause recurrent
bleeding and facial disfigurement, and have significant psychological effects. We reviewed the effectiveness and safety of topical
sirolimus ointment 0.1%. We also assessed the effect of treatment on quality of life. Methods. We report our experience in using
sirolimus ointment in 14 patients with
TSC (9 children and 5 adults). The impact of
sirolimus ointment was monitored with digital photography, dermatological review using a validated Facial
Angiofibroma Severity Index (FASI), and quality of life assessments using the questionnaires PedsQL for children and SF36 for adults. Results. The FASI scores were improved in 12/14 cases after six months' treatment, and improvement was more likely in children (median FASI scores of improvement
after treatment were 3 points for children and 1 for adults). Proxy-reported PedsQL scores for the total psychosocial domain improved significantly in the children in the cohort with treatment. Conclusions.
Sirolimus ointment 0.1% administered once a day was effective in treating facial
angiofibromas. It appears to be safe and well tolerated and to have a positive impact on patients' quality of life. It appeared to be most beneficial when started in childhood.