1054 Sirolimus gel treatment for tuberous sclerosis complex involving facial angiofibromas and cephalic plaques: A multicenter randomized controlled trial

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Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex

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 sirolim...

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Topical rapamycin for facial angiofibromas in tuberous sclerosis complex

Facial angiofibromas are a common cutaneous manifestation of tuberous sclerosis complex. Although angiofibromas are usually asymptomatic, they can be highly disfiguring and can have a significant impact on patient quality of life. Treatment for facial angiofibromas is challenging. Recently, topical rapamycin has been proposed as an effective option to treat angiofibromas. Herein is reported a c...

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Sirolimus for epilepsy in children with tuberous sclerosis complex: A randomized controlled trial.

OBJECTIVE To investigate whether mammalian target of rapamycin complex 1 (mTORC1) inhibitors could reduce seizure frequency in children with tuberous sclerosis complex (TSC). METHODS Due to slow inclusion rate, target inclusion of 30 children was not reached. Twenty-three children with TSC and intractable epilepsy (age 1.8-10.9 years) were randomly assigned (1:1) to open-label, add-on sirolim...

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Facial unilateral angiofibromas: a postzygotic tuberous sclerosis like mutation.

Sir, Facial angiofibromas are flesh colored or red papules located centrofacially, especially on the nose, cheeks, and chin and represent a major criterion of tuberous sclerosis (TS). Unilateral facial angiofibromas (UFA) have been occasionally reported in literature. We present a case of UFA in a 36-year-old patient without other features of TS, review each case of previously described UFA and...

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Facial Angiofibromas and Periungual Fibromas in Tuberous Sclerosis

A 78-year-old woman with chronic kidney disease visited our emergency department due to pain in her right flank. Abdominal computed tomography revealed perirenal hematoma and angiomyolipomas, and transcatheter arterial embolization was performed. Angiography also showed bilateral renal aneurysms. A physical examination revealed several red papules (facial angiofibromas) (Picture 1) and skincolo...

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ژورنال

عنوان ژورنال: Journal of Investigative Dermatology

سال: 2018

ISSN: 0022-202X

DOI: 10.1016/j.jid.2018.03.1067