Results 11 to 20 of about 1,419 (181)
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 +6 more
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The tuberous sclerosis complex [PDF]
Annals of the New York Academy of Sciences, 2010 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism ...
Ksenia A, Orlova, Peter B, Crino
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Tuberous Sclerosis Complex in a 17-month-old: A Case Report
Journal of Nepal Medical Association, 2023 Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e.
Sarjan K.C. +5 more
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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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Tuberous sclerosis complex for the pulmonologist [PDF]
European Respiratory Review, 2021 Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder affecting almost all organs with no sex predominance. TSC has an autosomal-dominant inheritance and is caused by a heterozygous mutation in either theTSC1orTSC2gene leading to hyperactivation of the mammalian target of rapamycin (mTOR).
Rebaine, Yasmine +4 more
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Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review
Frontiers in Oncology, 2022 Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-
Xinhe Zhang +15 more
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Tuberous sclerosis complex [PDF]
Anais Brasileiros de Dermatologia, 2012 Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner.
Rodrigues, Daniela Araujo +2 more
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A rare case of tuberous sclerosis complex-associated renal cell carcinoma
South African Journal of Radiology, 2022 Renal cell carcinoma is rarely described in paediatric patients with tuberous sclerosis complex. This report describes a case of an 11-year-old male with tuberous sclerosis-associated renal cell carcinoma.
Humphrey Mapuranga +5 more
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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
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Indian Heart Journal, 2013 A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC) like facial ...
Dharmendra Jain +3 more
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