Results 1 to 10 of about 243,798 (221)

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

Impact of facial angiofibromas in tuberous sclerosis complex and reported efficacy of available treatments

Frontiers in Medicine, 2022
Tuberous Sclerosis Complex (TSC) is a genetic condition which leads to a loss of inhibition of cellular growth. Facial angiofibromas (FAs) are hamartomatous growths associated with TSC that appear as multiple small, erythematous papules on the skin of ...
Marie Monaghan, Pooja Takhar, Luke Langlands, Markus Knuf, Markus Knuf, Sam Amin   +5 more
doaj   +1 more source

Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility

BMC Neurology, 2021
Background Subependymal giant cell astrocytoma (SEGA) is occasionally seen in tuberous sclerosis complex (TSC). Two main options are currently available for treating SEGA: surgical resection or pharmacotherapy using mammalian target of rapamycin ...
Kyoichi Tomoto, Ayataka Fujimoto, Chikanori Inenaga, Tohru Okanishi, Shin Imai, Masaaki Ogai, Akiko Fukunaga, Hidenori Nakamura, Keishiro Sato, Akira Obana, Takayuki Masui, Yoshifumi Arai, Hideo Enoki   +12 more
doaj   +1 more source

Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey

Orphanet Journal of Rare Diseases, 2023
Background Tuberous sclerosis complex (TSC) is a rare genetic condition commonly accompanied by neurological and neuropsychological disorders, resulting in a high burden of illness for individuals and a substantial impact on their caregivers.
Hanna Skrobanski, Kishan Vyas, Sally Bowditch, Lena Hubig, Edward Dziadulewicz, Louise Fish, Pooja Takhar, Siu Hing Lo   +7 more
doaj   +1 more source

Perfect match: mTOR inhibitors and tuberous sclerosis complex

Orphanet Journal of Rare Diseases, 2022
Highlights Hyperactivation of mammalian target of rapamycin (mTOR) is essential in the pathogenesis of tuberous sclerosis complex (TSC) and can serve as a therapeutic target. mTOR inhibitors have shown considerable success in multiple clinical trials for
Cong Luo, Wen-Rui Ye, Wei Shi, Ping Yin, Chen Chen, Yun-Bo He, Min-Feng Chen, Xiong-Bin Zu, Yi Cai   +8 more
doaj   +1 more source

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
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Tuberous sclerosis with kidneys angiomyolipomas: a family case

Вестник урологии, 2023
Tuberous sclerosis is one of the forms of monogenic hereditary pathology related to neurocutaneous diseases (phacomatoses). Diagnostic difficulties are associated with pronounced clinical polymorphism and age-dependent onset of symptoms.
A. A. Keln, E. V. Semenova, O. L. Keln, M. S. Shvedskyi   +3 more
doaj   +1 more source

Early Sirolimus Gel Treatment May Diminish Angiofibromas and Prevent Angiofibroma Recurrence in Children With Tuberous Sclerosis Complex

Frontiers in Medicine, 2020
Introduction: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder. Angiofibromas (AF), fibrous plaques, and hypopigmented macules are the major skin findings in TSC.
Tohru Okanishi, Tohru Okanishi, Ayataka Fujimoto, Ayataka Fujimoto, Hideo Enoki, Masaaki Ogai, Masaaki Ogai   +6 more
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White matter disruptions related to inattention and autism spectrum symptoms in tuberous sclerosis complex

NeuroImage: Clinical, 2022
Tuberous sclerosis complex is a rare genetic multisystem condition that is associated with a high prevalence of neurodevelopmental disorders such as autism and attention-deficit/hyperactivity disorder. The underlying neural mechanisms of the emergence of
Lucy D. Vanes, Charlotte Tye, Jacques-Donald Tournier, Anna J.E. Combes, Elizabeth Shephard, Holan Liang, Gareth J. Barker, Chiara Nosarti, Patrick Bolton   +8 more
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Tuberous sclerosis complex: review based on new diagnostic criteria [PDF]

Anais Brasileiros de Dermatologia, 2018
: Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung.
Larissa Karine Leite Portocarrero, Klícia Novais Quental, Luciana Paula Samorano, Zilda Najjar Prado de Oliveira, Maria Cecília da Matta Rivitti-Machado   +4 more
doaj   +1 more source