Factsheet
Condition:
Tuberous sclerosis complex
Inheritance:
Autosomal dominant
Genetic Etiology:
Mutation of either TSC1 or TSC2 genes on chromosomes 9 and 16, respectively. Both function as tumor suppressor genes.
Frequency:
Approximately 1/6,000.
Clinical features:
TSC is a multisystem hamartosis disorder. Dysplastic foci in the central nervous system are associated with seizures and developmental delay. Cardiac rhabdomyomas may occur in infancy, but spontaneously regress. Retinal hamartomas may occur, though usually are asymptomatic. Renal cysts may occur, especially in patient with a contiguous deletion of TSC2 and PKD1 on chromosome 16. Women are at risk for life-threatening lymphangiomyomatsis of the lung. Skin lesions include hypomelanotic macules and collagenous plaques.
Management:
Symptomatic management and monitoring for complications.
Genetic counseling:
Affected individuals at 50% risk of transmitting a gene mutation; both familial and de novo cases occur. Genetic testing is available, though not all pathogenic mutations can be identified. Penetrance is complete.