title: 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.
  
  
  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.affiliation: Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Basel, University of Basel, Basel, Switzerland; INSERM Unité 1511, Paris, France. Electronic address: patricia.dill@inserm.fr.
authors.forename: Patricia E
authors.initials: PE
authors.lastname: Dill
authors.affiliation: INSERM Unité 1511, Paris, France; Division of Pediatric Surgery, University Children's Hospital Basel, University of Basel, Basel, Switzerland.
authors.forename: Gaston
authors.initials: G
authors.lastname: De Bernardis
authors.affiliation: Department of Pediatric Neurology and Developmental Medicine, University Children's Hospital Basel, University of Basel, Basel, Switzerland.
authors.forename: Peter
authors.initials: P
authors.lastname: Weber
authors.affiliation: Hospital Pharmacy, University Hospital Basel, University of Basel, Basel, Switzerland.
authors.forename: Uli
authors.initials: U
authors.lastname: Lösch
mesh_terms: D018322:Angiofibroma / Q000209:etiology*; D002648:Child; D000068338:Everolimus; D005145:Face / Q000473:pathology*; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use*; D020123:Sirolimus / Q000031:analogs & derivatives* / Q000627:therapeutic use; D014402:Tuberous Sclerosis / Q000150:complications*
chemical_list: D007166:Immunosuppressive Agents; D000068338:Everolimus; D020123:Sirolimus
keywords: facial angiofibromas; mTOR inhibitors; topical everolimus; tuberous sclerosis complex