About the book
The Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder occurring in about 10 in 100,000 individuals. This disorder was first described in the nineteenth century and affects cellular differentiation in the skin, heart, lungs, kidneys, central nervous system, and elsewhere. The cutaneous manifestations are not pathognomonic but are present in over 90 percent of patients and include hypomelanotic macules, shagreen patches and fibromas. Cardiac rhabdomyoma, pulmonary lymphangioleiomyomatosis and renal angiomyolipoma as well as neurologic manifestations are associated with TSC. Cortical hamartomas, subependymal nodules, and subependymal giant cell astrocytomas (SEGA) are commonly observed.
TSC involves mutations in chromosomes 9 and 16 encoding for the proteins hamartin and tuberin, respectively. Mutations in these genes cause upregulation of the mTOR pathway and inhibitors of this pathway, such as rapamycin and everolimus, have been shown to be effective in controlling the growth of unresectable tumors. Due to involvement of multiple organ systems, a multidisciplinary treatment plan is necessary and genetic counseling is often part of the management of TSC. Treatment options are quite variable and depended upon symptoms and organ involvement.
The aim of this book is to provide the reader with an overview of the tuberous sclerosis complex including its genetic causes, clinical manifestations, and management of its most serious signs and symptoms.