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Less common manifestations in TSC
Susana Boronat1,2, Ignasi Barber3
1Department of Clinical Genetics, Hospital Universitari Sagrat Cor, Barcelona, Spain.
Abstract:
Tuberous sclerosis complex (TSC) is due to pathogenic variants in TSC1 or TSC2 genes resulting in hyperactivation of the mTOR pathway. Many organ systems can be affected, such as brain, skin, eye, heart, bone, kidney, or lung. Typical lesions of TSC usually are those included as major criteria, including angiofibromas, hypomelanotic macules, tubers, subependymal nodules, angiomyolipomas, cardiac rhabdomyomas, and lymphangioleiomyomatosis. However, there are many other manifestations less frequent and/or less well known, many of them not included as clinical diagnostic criteria that are part of the clinical spectrum of TSC. The focus of this review will be on these less common and less well-known manifestations of TSC. Among the rare manifestations, we will discuss some clinical findings including arteriopathy, arachnoid cysts, lymphatic involvement, chordomas, gynecological, endocrine, and gastrointestinal findings. Among the manifestations that are very frequent but much less well known, we find the sclerotic bone lesions. Although they are very frequent in TSC they have been largely overlooked and not considered diagnostic criteria, mainly because they are asymptomatic. However, it is important to know their typical characteristics to avoid misdiagnosing them as metastasis.
Insights
Tuberous sclerosis complex (TSC) involves rare and overlooked manifestations beyond major criteria. This review highlights less common findings like arteriopathy and frequent, asymptomatic sclerotic bone lesions to improve diagnosis.
Area of Science:
- Genetics and Molecular Biology
- Neurology
- Oncology
Background:
- Tuberous sclerosis complex (TSC) arises from pathogenic variants in TSC1 or TSC2 genes, leading to mTOR pathway hyperactivation.
- TSC affects multiple organ systems, with typical lesions including angiofibromas, tubers, and cardiac rhabdomyomas.
- Beyond major diagnostic criteria, TSC presents with numerous less common or overlooked manifestations.
Purpose of the Study:
- To review and highlight the less common and frequently overlooked clinical manifestations of Tuberous Sclerosis Complex (TSC).
- To increase awareness of rare TSC findings such as arteriopathy, arachnoid cysts, and lymphatic, gynecological, endocrine, and gastrointestinal issues.
- To emphasize the importance of recognizing frequent but often asymptomatic sclerotic bone lesions in TSC to prevent misdiagnosis.
Main Methods:
- Literature review focusing on Tuberous Sclerosis Complex (TSC) manifestations.
- Analysis of clinical findings, including rare and frequently overlooked symptoms.
- Emphasis on differentiating TSC-related bone lesions from metastatic disease.
Main Results:
- TSC presents with a wide spectrum of manifestations, including rare conditions like arteriopathy, arachnoid cysts, and lymphatic, endocrine, and gastrointestinal findings.
- Sclerotic bone lesions are a frequent but often overlooked manifestation of TSC, typically asymptomatic.
- Understanding these less common and asymptomatic findings is crucial for accurate diagnosis and management of TSC.
Conclusions:
- The clinical spectrum of Tuberous Sclerosis Complex (TSC) extends beyond established major criteria, encompassing rare and frequently overlooked manifestations.
- Awareness of these diverse findings, particularly asymptomatic sclerotic bone lesions, is essential for accurate diagnosis and to avoid misinterpretation as metastatic disease.
- Further research and clinical attention are needed for the less common manifestations of TSC to improve patient care and diagnostic accuracy.
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