Tuberous Sclerosis Complex Article Swipe
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 the causative genes TSC1 or TSC2. The elucidation of the pathogenesis of this disease and advances in diagnostic technologies have led to dramatic changes in the diagnosis and treatment of TSC. Diagnostic criteria have been created at a global level, and mTORC1 inhibitors have emerged as therapeutic agents for this disease. Previously, the treatment strategy was limited to symptomatic treatments such as surgery. Inhibitors of mTORC1 are effective against all symptoms of TSC, but they also have systemic side effects. Therefore, the need for a cross-disciplinary, collaborative medical care system has increased, resulting in the establishment of a practice structure known as the "TSC Board." Furthermore, to reduce the side effects of systemic administration of mTORC1 inhibitors, a topical formulation of mTORC1 inhibitor was developed in Japan for the treatment of skin lesions caused by TSC. This report summarizes the pathogenesis and current status of TSC and the contribution of the Neurocutaneous Syndrome Policy Research Group to the policies of the Ministry of Health, Labor, and Welfare with respect to this rare, intractable disease.
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Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.2302/kjm.2023-0011-ir
- https://www.jstage.jst.go.jp/article/kjm/advpub/0/advpub_2023-0011-IR/_pdf
- OA Status
- diamond
- Cited By
- 5
- References
- 58
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4385450059
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4385450059Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.2302/kjm.2023-0011-irDigital Object Identifier
- Title
-
Tuberous Sclerosis ComplexWork title
- Type
-
reviewOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-08-01Full publication date if available
- Authors
-
Mari Wataya‐KanedaList of authors in order
- Landing page
-
https://doi.org/10.2302/kjm.2023-0011-irPublisher landing page
- PDF URL
-
https://www.jstage.jst.go.jp/article/kjm/advpub/0/advpub_2023-0011-IR/_pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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diamondOpen access status per OpenAlex
- OA URL
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https://www.jstage.jst.go.jp/article/kjm/advpub/0/advpub_2023-0011-IR/_pdfDirect OA link when available
- Concepts
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Tuberous sclerosis, TSC1, Medicine, TSC2, Disease, Pathogenesis, mTORC1, Bioinformatics, Internal medicine, Pathology, PI3K/AKT/mTOR pathway, Genetics, Biology, Signal transductionTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
5Total citation count in OpenAlex
- Citations by year (recent)
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2025: 2, 2024: 3Per-year citation counts (last 5 years)
- References (count)
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58Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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