Tuberous sclerosis

Question 1

Tuberous sclerosis mnemonic:

Answer 1

AASHHLEAF
A: ash leaf spots
A: Astrocytoma
S: Shagreen patch (including fibrous cephalic plaque)
H: Heart rhabdomyoma/rhabdomyosarcoma
H: Hamartin gene
L: Lung (pulmonary lymphangioleiomyomatosis
E: Epilepsy
A: Angiolipoma in kidney
F: Facial angiofibroma (and ungual aka Koenen tumors)

Question 2

What cutaneous finding on face can be seen in Tuberous sclerosis?

Answer 2

facial angiofibromas (aka adenoma sebaceum)

- can also see fibrous cephalic plaque which is like a shagreen patch on the head

Question 3

Tuberin/Hamartin gene function to:

Answer 3

inhibit signal transduction of mTOR

Question 4

shagreen patch:

Answer 4