Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal sur...

Angiomyolipoma of the liver or kidney is one of the clinical manifestations of tuberous sclerosis complex. However, concurrence of angiomyolipoma in both liver and kidney associated with tuberous sclerosis complex is a rare entity. Renal angiomyolipomas with large aneurysms confer a higher probability of rupture as compared to small aneurysms. Herein, we document a case of tuberous sclerosis co...

Neuronal function depends on the specification of neuronal processes as axons or dendrites. In this issue of Genes & Development Choi and colleagues (2485-2495) show that without Tuberous Sclerosis Complex 1 (Tsc1) or Tsc2, molecules linked to the autosomal dominant disease tuberous sclerosis, an increase in the activity of the translational regulator Target of Rapamycin 1 (TORC1) causes neuron...

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disease with a high mutation rate. It is clinically a very variable disorder and hamartomas can occur in many different organs. TSC shows genetic heterogeneity; one gene, TSC1, is on chromosome 9q34, and the second gene, TSC2, on chromosome 16p13.3. Clinical criteria for diagnosis have been established, but diagnosis of patie...

Abstract Background Angiomyolipoma with epithelial cysts is a rare variant of an angiomyolipoma that typically occurs sporadically. Patients pre-existing kidney lesion or disease have significantly increased risk morbidity and mortality associated trauma. Abnormal diseased kidneys are frequently injured by low insignificant velocity impacts. The vulnerability these related to the type pathology...

BACKGROUND AND OBJECTIVES Facial angiofibromas are disfiguring facial lesions, present in up to 80% of patients with tuberous sclerosis complex. Recent elucidation of the complex cell signaling pathways that are disrupted in tuberous sclerosis indicates that rapamycin may be successful in alleviating the appearance of these lesions. The objectives of the current study were to evaluate the safet...

introduction: several treatment options have been introduced for removal of gingival hyperplasic lesions, but using diode lasers have many advantages such as less bleeding, time saving, better shaping, improved healing and less complication for the patients. case: a 15-year-old girl with multiple fibroma-like lesions in the oral cavity, who had a medical history of tuberous sclerosis, was selec...

Tuberous sclerosis complex is an autosomal dominant condition with variable penetrance. It characterized by tuberose deposits in various organ systems. Although clinical features predominate neurocutaneous manifestations, cardiac, kidney, and lung involvement are common. Cardiac marked the presence of multiple rhabdomyomas some cases arrhythmias. In absence symptoms, require no specific treatme...