Tuberous Sclerosis Complex in 29 Children: Clinical and Genetic Analysis and Facial Angiofibroma Responses to Topical Sirolimus

Abstract

Hypomelanotic macules are often the first sign of TSC. Genetic testing has a high detection rate in patients with a clinical diagnosis of TSC. Topical sirolimus appears to be both effective and well-tolerated as a treatment of facial angiofibromas in children with TSC. The response typically plateaus after 12 to 24 weeks of treatment.

Effect of Topical Rapamycin 1% on Multiple Trichoepitheliomas

“…The occurrence of headaches, a side-effect reported for oral sirolimus may suggest a systemic diffusion of the drug (9). It is notable that this side-effect was not previously reported with the topical formulation, either in tuberous sclerosis (10) or in MFT-related trichoepitheliomas (2).…”

Topical rapamycin (sirolimus) for the treatment of uncomplicated tufted angiomas in two children and review of the literature

“…In previous studies, blood levels of topical rapamycin have been lower than the individual laboratory detection limits . Given this, we elected not to measure rapamycin levels in our cases and monitored the patients clinically for any side effects.…”

“…24 In previous studies, blood levels of topical rapamycin have been lower than the individual laboratory detection limits. 14,15,19,20,22,27,28 Given this, we elected not to measure rapamycin levels in our cases and monitored the patients clinically for any side effects. Topical rapamycin has been reported for use in children as young as 2 years of age, and oral rapamycin has been used in children with vascular anomalies from 21 days of age.…”

Pediatric Dermatology ‐ critical approach to the new treatments

“…Mutation in TSC1 and TSC2 lead to activation of mTOR, causing abnormal facial angiofibromas (FAs) proliferation (MacKeigan & Krueger, ). In our group, Wang SF (Wang et al, ) described that 0.1% topical sirolimus was well effective and well tolerated as a treatment of facial angiofibromas in children with TSC. The result is same to another long‐term prospective treatment study of FAs of TCS with topical sirolimus cream from French group (Malissen et al, ).…”