Table of Contents
International Scholarly Research Notices
Volume 2017, Article ID 8404378, 6 pages
https://doi.org/10.1155/2017/8404378
Clinical Study

Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex

1Paediatric Neurology, University College London and University Hospitals Bristol, London, UK
2Paediatric Neurology, University Hospitals Bristol, Bristol, UK
3Dermatology, University Hospital of North Durham, Durham, UK
4Paediatric Neurosciences, University College London, London, UK

Correspondence should be addressed to S. Amin; ku.ca.lcu@41.nima.mas

Received 8 August 2017; Accepted 18 October 2017; Published 15 November 2017

Academic Editor: José María Huerta

Copyright © 2017 S. Amin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.