Author Affiliations: Department of Dermatology, Graduate School of Medicine, Osaka University (Drs Wataya-Kaneda, Tanaka, and Katayama), and Department of Pharmacy, Osaka University Hospital (Drs Nakamura and Matsumoto), Osaka, Japan.
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by systemic hamartomas. Two genes, TSCI and TSCII, which encode hamartin and tuberin, are responsible for TSC. The complex of hamartin and tuberin inhibits the mammalian target of rapamycin (mTOR),1 which has numerous functions in the regulation of protein synthesis and cell growth. The constitutive activation of mTOR is associated with abnormal cellular proliferation, which causes TSC-related hamartomas.
Wataya-Kaneda M, Tanaka M, Nakamura A, Matsumoto S, Katayama I. A Novel Application of Topical Rapamycin Formulation, an Inhibitor of mTOR, for Patients With Hypomelanotic Macules in Tuberous Sclerosis Complex. Arch Dermatol. 2012;148(1):138-139. doi:10.1001/archderm.148.1.138