Tuberous Sclerosis Flashcards
What is adenomatous sebaceum (facial angiofibromas)?
Small erythematous papules
Often seen around puberty
Confused with acne
What is a Shagreen patch?
Area of local skin thickening
What is a retinal harmatomas?
Non-calcified retinal hamartoma are a major criteria for Tuberous sclerosis
What is a cortical tubers?
Major: firm whitish pyramid-shaped elevated areas of gyral thickening
Grossly similar to potatoes (tubers)
What is a subependymal giant cell astrocytoma (SEGA)?
malignant transformation of SEN into SEGA
Almost exclusively seen in TS
Well-circumscribed, solid, intraventricular masses located near formaen of Munro
May cause CSF obstruction and hydrocephalus
Treat with everolimus (if stop will start to grow again)
What is a cardiac rhabdomycomas?
One or more hypoechoic masses on antenatal US often, present at birth, decrease in size with age. If not present at birth they will NOT develop later
What is the complication of renal angiomyolipomas?
Renal US to follow as can grow and result in obstructive renal failure
What is the surveillance for TS?
- BP q1y
- Annual screen for lung involvement (SOBOE, no PFT)
- MRI brain q1-3y in asx patients (<25yo)
- Annual P/E by MD knowledgeable about TS
- Annual ophtho exam
- MRI abdomen (usu. US abdomen) q1-3y
- Echo q1-3y in kids until rhabdomyoma regression noted
- Genetic counselling referral
- Annual P/E by MD knowledgeable about TSC
What is the prognosis for TS?
Normal life expectancy
High burden of morbidity
What is the diagnostic criteria for TS?
Definite Diagnosis: 2 major features or 1 major feature with 2 minor features
Possible Diagnosis: Either 1 major feature, 1 major and 1 minor, or >2 minor features
What are the major features of TS?
- Hypomelanotic macules (>3 at least 5mm diameter)
- Angiofibromas (>3) or fibrous cephalic plaque
- Ungual fibromas (>2)
- Shagreen patch
- Multiple retinal hamartomas
- Cortical dysplasias (>3)*
- Subependymal nodules (>2)
- Subependymal giant cell astrocytomas
- Cardiac rhabdomyoma
- Lymphangioleiomyomatosis (LAM)**
- Angiomyolipomas (>2)**
- includes tubers and cerebral white matter radial migration lines
- A combination of the two major clinical features LAM and angiomyolipomas without other features does not meet criteria for a Definite Diagnosis
What are the minor features of TS?
- “Confetti” skin lesions
- Dental enamel pits (>3)
- Intraoral fibromas (>2)
- Retinal achromic patch
- Multiple renal cysts
- Non-renal hamartomas
What percentage of individuals with TSC have no mutation identified?
15%
