Topical everolimus for facial angiofibromas in the tuberous sclerosis complex. A first case report.

Abstract

BACKGROUND:

Facial angiofibromas are present in most of the patients with the tuberous sclerosis complex and may cause severe disfiguration of the face. The tumor growth in tuberous sclerosis complex is promoted by the disinhibition of the mammalian target of rapamycin pathway. Thus, the systemic treatment with mammalian target of rapamycin inhibitors such as sirolimus and everolimus has recently been established to treat specific tuberous sclerosis complex-associated lesions. For patients who suffer from disfiguring facial angiofibromas only, there is a need for a topical use of mammalian target of rapamycin inhibitors. Sirolimus has been shown to be beneficial in treating facial angiofibromas. But the topical use of everolimus, which has the approval to treat tuberous sclerosis complex-associated tumors, namely giant cell astrocytomas and renal angiofibromas, has not been reported.

PATIENTS AND RESULTS:

We present a 10-year-old girl whose facial angiofibromas were successfully treated with an everolimus ointment without relevant side effects. In addition, we provide a short pharmacological overview of sirolimus and everolimus with focus on the topical use.

CONCLUSIONS:

Topical everolimus seems to be a favorable and safe option for patients with facial angiofibromas who do not require systemic treatment.

• Authors: Patricia E Dill, Gaston De Bernardis, Peter Weber, Uli Lösch
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 51 Issue 1 Pg. 109-13 (Jul 2014) ISSN: 1873-5150 [Electronic] United States
• PMID: 24810875 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2014 Elsevier Inc. All rights reserved.

Chemical References

• Immunosuppressive Agents
• Everolimus
• Sirolimus

Topics

• Angiofibroma (etiology)
• Child
• Everolimus
• Face (pathology)
• Female
• Humans
• Immunosuppressive Agents (therapeutic use)
• Sirolimus (analogs & derivatives, therapeutic use)
• Tuberous Sclerosis (complications)