21 - 136 - TUBEROUS SCLEROSIS COMPLEX Flashcards
Major features of TS, except
a. Hypomelanotic macules >3 atleast 5 cm in diameter
b. Shagreen patch
c. Ungual fibromas >2
d. Angiofibromas >3
a. Hypomelanotic macules >3 atleast 5 cm in diameter
Minor features of TS, except
a. Confetti skin lesions
b. Dental enamel pits >2
c. Intraoral fibromas >2
d. Multiple renal cysts
b. Dental enamel pits >2
Indications for use of mTOR inhibitors for TS, except
a. cardiac rhabdomyomas
b. LAM
c. Angiomyolipomas
d. Angiofibromas
d. Angiofibromas
Skin manifestation that is associated with ipsilateral cerebral abnormalities and contralateral seizures
a. Shagreen patch
b. Fibrous plaque
c. Koenen tumor
d. Angiofibromas
b. Fibrous plaque
Less common affected area by shagreen patch
a. Lower back - MC
b. Sacral region - MC
c. Upper Back
d. Forehead
c. Upper Back
pattern of inheritance of TSC
AD
Tuberous sclerosis complex (TSC) is a genetic disease caused by mutations in what tumor-suppressor gene?
TSC1 or TSC2
tuberous sclerosis complex affect what organs?
brain, heart, kidneys, lungs, and skin.
common presentation of TSC during infancy
seizures
skin findings of patients with TSC
- hypomelanotic macules
- facial angiofibromas
- fibrous cephalic plaques
- shagreen patches,
- ungual fibromas
what is the major criteria for hypomelanotic macules
Three or more hypopigmented macules measuring 5 mm or greater in longest dimension constitutes a major feature for the diagnosis of tuberous sclerosis
AOP of ash-leaf spots
trunk and buttocks
AOP of confetti skin lesions
legs below the knees or forearms
AOP of facial angiofibromas
central face and are often concentrated in the alar grooves
extending symmetrically onto the cheeks and to the nose, nasal opening, and chin, with relative sparing of the upper lip and lateral face
angiofibromas relatively spare what areas of the face?
upper lip and lateral face
how many angiofibromas comprise a major feature?
3 or more
The development of multiple angiofibromas with onset later in adolescence or early adulthood is not specific for TSC and may, instead, indicate presence of what conditions?
multiple endocrine neoplasia Type 1 or Birt-Hogg-Dubé syndrome
Most common location of shagreen patch
lower back to sacral region
how many ungual fibromas should be present for it to be classified as a major feature for diagnosis of TSC?
2 or more
another name for multiple skin tags in tuberous sclerosis complex
Molluscum fibrosum pendulum
intraoral fibromos are most common on what site?
gingiva
The first-line treatment of infantile spasms
vigabatrin
This drug inhibits mTORC1 activity and treats TSC tumors
Sirolimus (rapamycin)
Lesions characteristic of TSC
- Juvenile-Onset Angiofibromas (≥3)
- Hypomelanotic Macules (≥3)
- Ungual Fibromas (≥2)
- Fibrous Cephalic Plaque
- Shagreen Patch
clinical course and prognosis of TSC
- They exhibit **decreased overall survival **compared with the general population.
- The causes of premature death include** renal failure, intractable seizures, obstructive hydrocephalus, cardiac outflow obstruction, arrhythmia, respiratory failure, pneumothorax, and hemorrhage** from an aneurysm or a tumor, especially angiomyolipomas
- Brain and heart tumors may cause death in infancy, whereas lung and kidney tumors are more likely to cause premature death in adulthood.
- The prognosis for the individual patient depends on disease expressivity.
- Some individuals have a normal life span with few medical complications.
The management of TSC skin tumors has changed with the use of what drug classification?
mTOR inhibitors
Everolimus, Sirolimus
