Tuberous sclerosis complex (TSC), a neurocutaneous syndrome, is characterized by the development of benign tumours affecting different body systems. We herein present a report of a 40-year-old female patient presenting with dental enamel pits and localized gingival overgrowth that eventually lead to the diagnosis of a case of familial TSC. Diagnosis of familial TSC by comprehensive oral examina...

A 13-year-old boy with tuberous sclerosis complex (TSC) presented with a painless, gradually progressive area of thickened skin in the occipito-cervical region corresponding to a giant shagreen patch (Figure A). Physical examination demonstrates facial angiofibromas (Figure B) and periungual fibromas. He also presented mental retardation and tonic-clonic seizures. MRI revealed a subependymal no...

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder stemming from unregulated activation of the mammalian target of rapamycin (mTOR) pathway, resulting in the growth of hamartomas in multiple organs. TSC-related skin lesions often develop early in life and can be disfiguring, emotionally distressful and even painful at times. Recognition of TSC-associated skin features by paediat...

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder leading to the widespread development of benign tumors that often contain giant cells. We show that the Drosophila gene gigas encodes a homolog of TSC2, a gene mutated in half of TSC patients. Clones of gigas mutant cells induced in imaginal discs differentiate normally to produce adult structures. However, the cells in these cl...

The kidney is affected in about 80–85% of tuberous sclerosis complex (TSC) patients. Renal manifestations in TSC patients include an increased incidence of epithelial cysts and tumors, such as multiple renal angiomyolipomas (AMLs), renal cell carcinoma (RCC), and oncocytoma.[1,2] The coexistence of RCC and renal AML within same tumor masses, namely collision tumor, is very rare, and about six c...

Epilepsy is a common manifestation of tuberous sclerosis complex (TSC). More than 80% of individuals with TSC will have seizures, most often beginning in childhood. Several new anticonvulsant medications have become available in recent years, and these drugs along with older medications control the seizures for many individuals. Unfortunately, for some individuals with TSC, the seizure activity...

Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...

Mutation in either TSC1 or TSC2 causes the autosomal dominant disorder tuberous sclerosis, in which widespread hamartomas are seen, some of which have a high level of vascularization. Tuberous sclerosis complex (TSC) gene products negatively regulate mammalian target of rapamycin (mTOR) activity. We found that vascular endothelial growth factor (VEGF) is secreted by Tsc1- or Tsc2-null fibroblas...

Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic inactivation of wild-type alleles drives MTOR activation; however, second hits to TSC1/TSC2 are not always observed. Here, we present the geno...

Background: Subependymal giant cell astrocytoma (SEGA) is a clinically benign brain tumor associated with tuberous sclerosis complex (TSC). There are still controversies on early diagnosis of the tumor. Methods: CT and MR imaging of 20 patients with pathologically confirmed SEGA were retrospectively reviewed. Two radiologists evaluated the location, shape, size, number, edge, cerebral edema, ho...