Tuberous sclerosis Flashcards
1
Q
Inheritence
Gene
Chromosome
A
Autosomal dominant
Hamartin, chrom 9
Tuberin, chrom 16
2
Q
Clinical manifestations
A
Shagreen patches, ash-leaf patches
Angiofibromas
Subungual fibromas
CNS: cortical hamartomas, subependymal giant cell astrocytomas
Renal angiomyolipomas, pulmonary lymphangioleiomyomatosis
Cardiac rhabdomyomas
Retinal hamartomas
Cysts: liver, kidney, pancreas
