By Disease Name > Tuberous Sclerosis

Tuberous Sclerosis

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autosomal dominant;  but 2/3 cases sporadic
chromosome 9 (hamartin)
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

 

 

SKIN:

hypomelanotic macules:
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
shagreens patch: connective tissue nevus
Konin tumor: periungual fibromas;  appear at or after puberty

 

CNS:

mental retardation <50%
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%
a hamartomatous disease
gliomas (brain)
angiofibromas (skin)
rhabdomylomas (heart)
angioleiyomas (kidney)