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Tuberous sclerosis complex [PDF]
Nature Reviews Disease Primers, 2016 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or TSC2. The disorder can affect both adults and children. First described in depth by Bourneville in 1880, it is now estimated that nearly 2 million people are affected by the ...
Elizabeth P Henske +2 more
exaly +9 more sources
The Keio Journal of MedicineTuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in
Rout P, Thomas A.
europepmc +8 more sources
Revista Ciencias Biomédicas, 2015 Introduction: tuberous sclerosis complex (TSC) is a neurocutaneous syndrome autosomal dominant (AD), characterized by multiple hamartomas formation due to mutation of the TSC1 and TSC2 genes responsible for encoding tumor suppressor proteins.
Barboza-Ubarnes Miriam +2 more
doaj +7 more sources
Muller Journal of Medical Sciences and Research, 2014 Tuberous sclerosis complex is a genetic disorder with a characteristic development of a benign tumorous growth in various tissues. Clinical picture is very heterogeneous, resulting in difficult diagnosis and unrecognized patients.
Namitha Chathra, M Ramesh Bhat
doaj +4 more sources
Coexistence of Renal Cell Carcinoma and Psoriasis in Tuberous Sclerosis Complex: A Shared mTOR Pathway Pathogenesis? [PDF]
Clinical Case ReportsTuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign hamartomas in multiple organs. Although renal manifestations such as angiomyolipomas and cysts are common, the occurrence of renal cell carcinoma (RCC) in ...
Sunil Jaiswal +5 more
doaj +2 more sources
Tuberous Sclerosis Complex [PDF]
Seminars in Pediatric Neurology, 2021 Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular proliferation and migration producing hamartomas-benign tumors or malignant cancers affecting the skin and brain ...
Carmona, Jesica Martín +3 more
+10 more sources
Tuberous Sclerosis Complex [PDF]
Indian Journal of Pediatrics, 2020 Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by mutations in the TSC1 gene (encoding of hamartin) or TSC2 gene (encoding of tuberin). The mutations result in dysregulation of cellular hyperplasia.
Madhuri, Akella +2 more
+7 more sources
Tuberous Sclerosis Complex [PDF]
New England Journal of Medicine, 2017 A 71-year-old man presented for the evaluation of chronic kidney disease and was noted to have erythematous papules on his face and lesions over his toenails suggestive of tuberous sclerosis.
Michele, Marchini, Elisabetta, Giglio
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Epilepsy and preventive antiepileptic treatment in tuberous sclerosis complex. Literature review
Neurologijos seminarai, 2023 Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the presence of benign tumors in many organs. The pathogenic mutation is found in either the TSC1 or TSC2 tumor suppressor genes. The presence of cortical or subcortical tubers
I. Kasiulevičiūtė
doaj +3 more sources