The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder affecting children and adults, results from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (encoding tuberin). In this article, the current knowledge of the pathogenesis of the disease and its management are discussed.

Supported by grants from the National Institutes of Health (NS045021, to Dr. Crino, and DK51052 and HL60746, to Dr. Henske).

No potential conflict of interest relevant to this article was reported.

Drs. Crino and Henske contributed equally to this article.

We are indebted to the Tuberous Sclerosis Alliance, the LAM Foundation, the Rothberg Institute for Childhood Diseases, and the Estling family.

Source Information

From the Department of Neurology (P.B.C.) and the Division of Medical Genetics (K.L.N.), University of Pennsylvania Medical Center; and the Department of Medical Oncology, Fox Chase Cancer Center (E.P.H.) — both in Philadelphia.

Address reprint requests to Dr. Crino at the Department of Neurology, 3 West Gates Bldg., 3400 Spruce St., University of Pennsylvania Medical Center, Philadelphia, PA 19104, or at .

Media in This Article

Figure 1Dermatologic, Renal, and Pulmonary Manifestations of TSC.
Figure 2Central Nervous System Manifestations of TSC.

Article Activity

525 articles have cited this article