Topical Rapamycin for Facial Angiofibromas in a Child with Tuberous Sclerosis Complex (TSC): A Case Report and Long-Term Follow-up.
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement including facial angiofibromas that often appear in early childhood. Here we report the case of a 12-year-old girl with widespread disfiguring facial angiofibromas that were successfully treated with topical rapamycin, a mTOR inhibitor. A sustained remission of skin lesions was documented in detail over a 3-year follow-up. This case highlights the fact that topical rapamycin is a useful option in treating TSC-associated skin lesions. Especially in medically complex patients topical treatment may lessen the need for surgical interventions, reducing the risks of surgery, its adverse effects and permanent scarring. However, there is no standard dose or formulation at present. Topical rapamycin appears safe, but long-term maintenance therapy is necessary to prevent facial lesions from regrowth.
Department of Pediatrics and Neonatology, Saarland Tuberous Sclerosis Center, Saarland University Medical Center, Homburg/Saar, Germany.
Daniel
D
Ebrahimi-Fakhari
Department of Dermatology, Allergology, and Venereology, Saarland University Medical Center, Homburg/Saar, Germany. cornelia.mueller@uks.eu.
Cornelia Sigrid Lissi
CSL
Müller
Department of Pediatrics and Neonatology, Saarland Tuberous Sclerosis Center, Saarland University Medical Center, Homburg/Saar, Germany.
Sascha
S
Meyer
Department of Pediatrics and Neonatology, Saarland Tuberous Sclerosis Center, Saarland University Medical Center, Homburg/Saar, Germany.
Marina
M
Flotats-Bastardas
Department of Dermatology, Allergology, and Venereology, Saarland University Medical Center, Homburg/Saar, Germany.
Thomas
T
Vogt
Department of Dermatology, Allergology, and Venereology, Saarland University Medical Center, Homburg/Saar, Germany.
Claudia
C
Pföhler
Facial angiofibroma; Pediatric dermatology; Sirolimus; TSC; Topical rapamycin; Tuberous sclerosis complex; mTOR