How are the TSC genes involved? Tuberous sclerosis complex (TSC) is estimated to occur in one of every 6000 individuals in the population at birth (1). About two thirds of cases are "sporadic", that is "out of the blue", and neither the baby's father nor mother are found themselves to have TSC after full genetic testing. In the remaining one-third of cases, the baby has inherited either the TSC...

We describe a reversed halo sign in a teenage girl with tuberous sclerosis complex (TSC). Lung manifestations of TSC include lung cysts corresponding to lymphangioleiomyomatosis and small nodules indicating multifocal micronodular pneumocyte hyperplasia (MMPH). However, a reversed halo sign in TSC has never been reported. The lesion was microscopically consistent with MMPH. Immunohistological f...

Radiol Bras. 2017 Jan/Fev;50(1):IX–X Tuberous sclerosis complex (TSC) is a genetic syndrome that predisposes to the formation of benign tumors, commonly known as hamartomas. It affects approximately 1 in 6,000 individuals, regardless of race or ethnicity. During the 1990s, more than 300 allelic variants of the TSC1 gene were reported, as were more than 1,000 allelic variants of the TSC2 gene. W...

Abstract Tuberous sclerosis complex (TSC) integrates upstream stimuli and regulates cell growth by controlling the activity of mTORC1. TSC functions as a GTPase-activating protein (GAP) towards small GTPase Rheb inhibits Rheb-mediated activation Mutations in genes cause tuberous sclerosis. In this study, near-atomic resolution structure human reveals an arch-shaped architecture, with 2:2:1 stoi...

Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by the triad epilepsy, hamartomas (angiofibroma) and reduced intellectual capacity. Phenotype can vary considerably. Almost all patients with TSC have at least one characteristic dermatologic feature. Facial angiofibroma can cause severe disfigurement. It may involve the cheeks, perio...

Mutations in tuberous sclerosis complex 1 (TSC1) or TSC2 predispose to angiomyolipomas and lymphangioleiomyomatosis in a mTOR-dependent manner. In these mesenchymal lesions, mTOR suppresses macroautophagy-mediated lysosomal degradation of YAP, which is a transcriptional coactivator of Hippo pathway and is required for the tumorigenesis of TSC. Therapeutic applications for TSC and other diseases...

Tuberous sclerosis complex (TSC) is a rare genetic disorder affecting the brain and other vital organs with varying symptoms and severity among patients. This study developed and validated a risk model to identify patients with TSC using large databases of medical and pharmacy claims.

Investigators from Harvard University and UCLA have reported that despite evidence of structural abnormalities in the visual pathway of animal models and children with tuberous sclerosis complex (TSC), visual evoked potentials (VEPs) in 12-month old children with TSC compared to an age-matched control group are not significantly altered.

Tuberous sclerosis complex (TSC) is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina. We present an obsessive-compulsive disorder patient, with classic dermatological findings and subependymal giant cell astrocytoma in TSC.