"Tuberous Sclerosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
| Descriptor ID |
D014402
|
| MeSH Number(s) |
C04.445.810 C04.651.800 C04.700.632 C10.500.507.400.750 C10.562.850 C10.574.500.865 C16.131.666.507.400.750 C16.320.400.880 C16.320.700.636
|
| Concept/Terms |
Tuberous Sclerosis- Tuberous Sclerosis
- Sclerosis, Tuberous
- Tuberous Sclerosis Complex
- Bourneville Syndrome
- Syndrome, Bourneville
- Bourneville's Disease
- Bourneville's Syndrome
- Syndrome, Bourneville's
- Bourneville-Pringle Disease
- Bourneville Pringle Disease
- Disease, Bourneville-Pringle
- Bourneville-Pringle's Disease
- Bourneville Pringle's Disease
- Bourneville-Pringles Disease
- Disease, Bourneville-Pringle's
- Cerebral Sclerosis
- Cerebral Scleroses
- Sclerosis, Cerebral
- Epiloia
- Phacomatosis, Bourneville
- Bourneville Phacomatosis
- Phakomatosis, Bourneville
- Sclerosis Tuberosa
- Tuberose Sclerosis
- Sclerosis, Tuberose
- Bourneville Disease
- Bourneville Phakomatosis
|
Below are MeSH descriptors whose meaning is more general than "Tuberous Sclerosis".
- Diseases [C]
- Neoplasms [C04]
- Hamartoma [C04.445]
- Tuberous Sclerosis [C04.445.810]
- Neoplasms, Multiple Primary [C04.651]
- Tuberous Sclerosis [C04.651.800]
- Neoplastic Syndromes, Hereditary [C04.700]
- Tuberous Sclerosis [C04.700.632]
- Nervous System Diseases [C10]
- Nervous System Malformations [C10.500]
- Malformations of Cortical Development [C10.500.507]
- Malformations of Cortical Development, Group I [C10.500.507.400]
- Tuberous Sclerosis [C10.500.507.400.750]
- Neurocutaneous Syndromes [C10.562]
- Tuberous Sclerosis [C10.562.850]
- Neurodegenerative Diseases [C10.574]
- Heredodegenerative Disorders, Nervous System [C10.574.500]
- Tuberous Sclerosis [C10.574.500.865]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
- Nervous System Malformations [C16.131.666]
- Malformations of Cortical Development [C16.131.666.507]
- Malformations of Cortical Development, Group I [C16.131.666.507.400]
- Tuberous Sclerosis [C16.131.666.507.400.750]
- Genetic Diseases, Inborn [C16.320]
- Heredodegenerative Disorders, Nervous System [C16.320.400]
- Tuberous Sclerosis [C16.320.400.880]
- Neoplastic Syndromes, Hereditary [C16.320.700]
- Tuberous Sclerosis [C16.320.700.636]
Below are MeSH descriptors whose meaning is more specific than "Tuberous Sclerosis".
This graph shows the total number of publications written about "Tuberous Sclerosis" by people in this website by year, and whether "Tuberous Sclerosis" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2013 | 0 | 1 | 1 |
| 2017 | 2 | 1 | 3 |
| 2018 | 10 | 3 | 13 |
| 2019 | 3 | 0 | 3 |
To return to the timeline, click here.
Below are the most recent publications written about "Tuberous Sclerosis" by people in Profiles.
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Stick or twist: Everolimus for seizures in tuberous sclerosis complex during the COVID-19 pandemic. Seizure. 2021 10; 91:271-272.
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Tuberous sclerosis complex (TSC), lymphangioleiomyomatosis, and COVID-19: The experience of a TSC clinic in Italy. Am J Med Genet A. 2020 11; 182(11):2479-2485.
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Crisis Standard of Care: Management of Infantile Spasms during COVID-19. Ann Neurol. 2020 08; 88(2):215-217.
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How many surgically-treated angiomyolipomas are related to tuberous sclerosis complex? Insights from a retrospective multicenter study. Minerva Urol Nefrol. 2020 Apr; 72(2):200-206.
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Facial folliculocystic and collagen hamartoma: a variant of fibrous cephalic plaque with prominent cyst formation? J Dtsch Dermatol Ges. 2019 07; 17(7):738-741.
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Unilateral Facial Angiofibromas. Skinmed. 2019; 17(1):52-53.
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Percutaneous microwave ablation of renal angiomyolipomas in tuberous sclerosis complex to improve the quality of life: preliminary experience in an Italian center. Radiol Med. 2019 Mar; 124(3):176-183.
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Lymphangioleiomyomatosis (LAM) presenting as recurrent pneumothorax in an infant with tuberous sclerosis: treated successfully with sirolimus. BMJ Case Rep. 2018 Nov 08; 2018.
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A case of uterine lymphangioleiomyomatosis in a young woman that was identified via peritonitis. J Obstet Gynaecol Res. 2019 Feb; 45(2):482-486.
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Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex. Am J Med Genet C Semin Med Genet. 2018 09; 178(3):355-364.