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Tuberous Sclerosis Complex-Varied Presentations in Family Clusters.
Ayush Sopori1, Seema Sharma1, Kavya Sharma1
1From the Department of Pediatrics, Dr. Rajendra Prasad Government Medical College, Kangra at Tanda, Himachal Pradesh, India.
Indian Journal of Dermatology
|June 5, 2023
Summary
Tuberous sclerosis complex (TSC) is a genetic disorder causing tumors in various organs. This study examines three families with TSC, highlighting its diverse neurological and dermatological symptoms.
Area of Science:
- Genetics and Molecular Biology
- Dermatology
- Neurology
Background:
- Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder.
- It is characterized by hamartomas in multiple organ systems.
- TSC results from mutations in the TSC1 or TSC2 tumor suppressor genes.
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