Angiofibromas (AF) are found in a majority of individuals with TSC over 5 years of age. These small bumps are usually scattered on the face, especially on the nose and cheeks, and sometimes on the forehead, eyelids, and chin. Topical sirolimus reduces the volume and redness of AF, but the early use of sirolimus is still an area of evolving research.
About this study
This was a small trial of nine children in Japan aged from three and a half to eleven years of age with TSC and AF, who were followed for up to 36 months. The aim of the trial was to determine if treatment initiation during the early stages of AF development can improve skin condition to near-normal levels.
During the study, the children used sirolimus gel (0.2%) over a six-month period.
Results of the study
There was an improvement in the size and redness of the angiofibromas in all nine patients after six months of treatment.
Three out of five children with fibrous plaques also showed improvements, with a reduction in size occurring after 6-18 months of treatment. Two children also had hypopigmented macules (white spots) and whilst there were improvements, the goal of nearly normal skin could not be achieved.
The treatment was very well tolerated with no child reporting severe skin reactions. However, one child reported drug acne related to the treatment.
The authors of the paper suggest that early initiation of sirolimus treatment can lead to near-normal skin in the long term, possibly for the life span, in patients with TSC exhibiting AF.
TSA cautions however that whilst the results are promising, this is a small scale study and more research is needed to validate these claims.
For more on treating angiofibromas, see https://tsa.org.au/information/skin/
Okanishi, T., Fujimoto, A., Enoki, H., & Ogai, M. (2020). Early Sirolimus Gel Treatment May Diminish Angiofibromas and Prevent Angiofibroma Recurrence in Children With Tuberous Sclerosis Complex. Frontiers in Medicine, 7, 1.
Full paper available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6987392/#!po=70.8333
This information is intended to provide some insights into recent TSC-related research. It is not intended to, and it should not, constitute medical or other advice. Readers are warned not to take any action without first seeking medical advice.