Topical 0.1% rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: A pilot study of four patients

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant genodermatosis characterised by the development of hamartomatous tumours in multiple organs including the brain, skin, kidneys, heart and lungs. Facial angiofibromas are the most visible and unsightly of the cutaneous manifestations of TSC, often resulting in stigmatisation for both the affected individuals and their families. Current treatments include vascular laser, ablative lasers and other destructive techniques such as shave excision and electrodessication. For the best outcome these treatments have to be repeated throughout childhood and teenage years, necessitating multiple general anaesthetics. We report a pilot study of topical rapamycin in four children with TSC and facial angiofibromas. Two patients were trialled on 0.1% rapamycin in petrolatum and the other two patients with 0.1% rapamycin solution (Rapamune) applied topically. Both preparations were rapidly and equally effective, however the 0.1% in petrolatum was much better tolerated. Younger patients with smaller angiofibromas had the best response with near complete clearance. Both preparations were more cost effective than pulsed dye laser under general anaesthesia. Although larger studies are needed, this treatment shows a potential to be a first-line management for facial angiofibromas in TSC and appears safe to start in early childhood.

Topical rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: Follow up of a pilot study and promising future directions

“…[2][3][4][5][6][7][8][9][10][11][12][13] The articles were limited to those available in the English language and they were read, and any relevant articles referred to in the references were also included in the study. Of these, 11 were case series and one was a review article.…”

“…Instead of being admitted to hospital for vascular and ablative laser therapies, patients may use a simple, safe and effective self-application of topical rapamycin. 2 In our pilot study we found that utilizing crushed sirolimus tablets (e.g. 1 mg) in a petrolatum base was the easiest way to compound a topical 0.1% preparation, causing less irritation than the oral Rapamune 1 mg/mL solution (Mississaugi, ON, Canada) used topically.…”

“Tuberous Sclerosis Complex”- With Rare Multisystem Involvements

“…[6] Although benign in nature, they can bleed or obstruct the nasal openings. [7] They cause great psychosocial burden to patients. [8] Therapeutic options included cryotherapy, electrocoagulation, dermabrasion, laser surgery and podophyllotoxin application.…”

Inhibition of Angiofibromas in a Tuberous Sclerosis Patient Using Topical Timolol 0.5% Gel

“…Later studies confirmed the profound effect of topical rapamycin on angiofibroma size and erythema and reported a reduction in recurrence rates. 5,[14][15][16] Side effects associated with topical rapamycin were minimal with local irritation being the most commonly reported symptom. 5 Several factors confound the use of topical rapamycin for patients with TSC with facial angiofibromas.…”