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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, Sergiusz, Jóźwiak, J Christopher, Kingswood, Julian R, Sampson, Elizabeth A, Thiele   +4 more
exaly   +10 more sources

Tuberous sclerosis complex with multisystem involvement: A case report [PDF]

Journal of International Medical Research
Tuberous sclerosis complex is a rare, autosomal dominant disorder caused by pathogenic variants in the tuberous sclerosis complex 1 or tuberous sclerosis complex 2 genes, leading to constitutive activation of the mammalian target of rapamycin pathway and
Haoran Chen, Minhua Shi, Yong Yu, Zengli Zhang, Ziyan Du   +4 more
doaj   +2 more sources

Tuberous Sclerosis Complex

The Keio Journal of Medicine
Tuberous 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

TUBEROUS SCLEROSIS COMPLEX

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, Fortich-González Rossana, Gómez-Kleebauer Carlos   +2 more
doaj   +7 more sources

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

BMC Medical Genetics, 2018
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang, Leping Shao   +7 more
doaj   +4 more sources

Bilateral Renal Angiomyolipomas with Invasion of the Renal Vein: A Case Report [PDF]

The Scientific World Journal, 2008
An angiomyolipoma (AML) is usually a benign, rare, and, more commonly, a unilateral renal tumour. Bilateral tumours are very rare, particularly in the absence of tuberous sclerosis complex.
C. Blick, N. Ravindranath, A. Muneer, A. Jones   +3 more
doaj   +4 more sources

Tuberous sclerosis complex

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 Reports
Tuberous 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, Shraddha Uprety, Mukesh Kumar Ranjan, Pratichya Thapa, Bigyan Paudel, Prakriti Lamichhane   +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, Moyano, Elisabeth Gómez, de Castro Almeida, Ana Raquel, Pilar, Leandro Martínez   +3 more
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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, Sabia, Handa, Mohit, Dogra   +2 more
  +7 more sources