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Less common manifestations in TSC.

Susana Boronat1,2, Ignasi Barber3

  • 1Department of Clinical Genetics, Hospital Universitari Sagrat Cor, Barcelona, Spain.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|August 30, 2018
PubMed
Summary
This summary is machine-generated.

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.

Keywords:
aneurysmsarachnoid cystsbonechordomaunusual

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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.