Tuberous sclerosis complex

EP Henske, S Jóźwiak, JC Kingswood… - Nature reviews Disease …, 2016 - nature.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …

Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex

JP MacKeigan, DA Krueger - Neuro-oncology, 2015 - academic.oup.com
Tuberous sclerosis complex (TSC) is a genetic autosomal dominant disorder characterized
by benign tumor-like lesions, called hamartomas, in multiple organ systems, including the …

Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex: the TREATMENT randomized clinical trial

MK Koenig, CS Bell, AA Hebert, J Roberson… - JAMA …, 2018 - jamanetwork.com
Importance Facial angiofibromas occur in approximately 75% of individuals with tuberous
sclerosis complex (TSC), causing substantial morbidity and disfigurement. Current therapies …

Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety …

MK Koenig, AA Hebert, J Roberson, J Samuels… - Drugs in R&d, 2012 - Springer
Abstract Background and Objectives Facial angiofibromas are disfiguring facial lesions,
present in up to 80% of patients with tuberous sclerosis complex. Recent elucidation of the …

Efficacy and safety of topical sirolimus therapy for facial angiofibromas in the tuberous sclerosis complex: a randomized clinical trial

M Wataya-Kaneda, A Nakamura, M Tanaka… - JAMA …, 2017 - jamanetwork.com
Importance Inhibitors of mammalian target of rapamycin complex 1, such as sirolimus,
effectively target skin lesions in tuberous sclerosis complex (TSC). However, systemic …

Rapamycin and rapalogs for tuberous sclerosis complex

TH Sasongko, K Kademane, SCS Hou… - Cochrane Database …, 2023 - cochranelibrary.com
Background Potential benefits of rapamycin or rapalogs for treating people with tuberous
sclerosis complex (TSC) have been shown. Currently everolimus (a rapalog) is only …

A novel rapamycin cream formulation improves facial angiofibromas associated with tuberous sclerosis complex: a double-blind randomized placebo-controlled trial

P Aitken, I Stanescu, L Boddington… - British Journal of …, 2023 - academic.oup.com
Abstract Background Facial angiofibromas (FAs) are a major feature of tuberous sclerosis
complex (TSC). Topical rapamycin can successfully treat FAs. A new stabilized cream …

[HTML][HTML] Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus

R Previtali, G Prontera, E Alfei, L Nespoli… - Pharmacological …, 2023 - Elsevier
Tuberous sclerosis complex is an autosomal dominant disease characterised by abnormal
cell proliferation and differentiation that affects multiple organs and can lead to the growth of …

Sirolimus gel treatment vs placebo for facial angiofibromas in patients with tuberous sclerosis complex: a randomized clinical trial

M Wataya-Kaneda, Y Ohno, Y Fujita… - JAMA …, 2018 - jamanetwork.com
Importance Most patients with tuberous sclerosis complex (TSC), an autosomal-dominant
disorder that is caused by the constitutive activation of mammalian target of rapamycin …

Topical use of mammalian target of rapamycin inhibitors in dermatology: a systematic review with meta-analysis

S Leducq, B Giraudeau, E Tavernier… - Journal of the American …, 2019 - Elsevier
Background Systemic mammalian target of rapamycin (mTOR) inhibitors are currently used
in many dermatologic indications. Their topical use is recent and poorly codified. Objective …