| • | autosomal dominant; but 2/3 cases sporadic |
| • | or chromosome 16 (tuberin): renal cysts only in this type; gene is adjacent to polycystic ovary disease gene |
| • | ddx: MEN I (angiofibromas, collagenomas, confetti) |
classic triad: present in only 25% of patients
| • | mnemonic – zits, fits, and nitwits |
| • | “epiloia” -epi- seizures (epilepsy) |
-loi- low IQ
-a- adenoma sebaceum
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SKIN:
| • | the earliest cutaneous manifestation (hypopigmented) |
| • | ~ 100% of affected children < 5 years old |
| • | ash-leaf shaped, or confetti shaped |
| • | ddx: nevus depigmentosus, nevus anemicus, vitiligo |
after age 5:
| • | adenoma sebaceum: neither adenomatous nor sebaceous (= angiofibromas) |
| • | proliferate during puberty |
| • | shagreen’s patch: connective tissue nevus |
| • | Konin tumor: periungual fibromas; appear at or after puberty |
CNS:
| • | sclerotic patches (tubers) and subependymal nodules scattered throughout cortex ???? |
| • | calcium is deposited in tubers and may be detected shortly after birth by CT, MRI, or x-ray (found in 90% of affected children) |
| • | brain lesions cause seizures in more than 90% of patients |
OTHER:
| • | enamel pitting in adults 100% |
|