CASE REPORT 13-year-old tuberous scler p

Full list of author information is available at the end of the articleTuberous sclerosis complex Background The TSC1 gene, hamartin, and the TSC2 gene, tuberin, were identified in 1997 and 1993, respectively. These tumor suppressor genes are mutated in the autosomal dominant tumor syndrome tuberous sclerosis complex (TSC) [1-3]. TSC is characterized by the formation of hamartomatous lesions in multiple organ systems. Besides the typical skin manifestations, e.g. cutaneous angiofibroma, peau chagrin, or subungual fibromas, TSC patients develop numerous brain lesions such as cortical tubers and subependymal giant cell astrocytomas. In addition, patients show an increased incidence of benign tumors such as multiple renal angiomyolipomas (AMLs), lymphangioleiomyomatosis (LAM) of the lungs, cardiac rhabdomyomas, and adenomatous polyps of the duode-num and the small intestine. Another rare manifestation of TSC is the so-called multifocal micronodular pneu