21 - 136 - TUBEROUS SCLEROSIS COMPLEX Flashcards
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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
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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
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Indications for use of mTOR inhibitors for TS, except
a. cardiac rhabdomyomas
b. LAM
c. Angiomyolipomas
d. Angiofibromas
d. Angiofibromas
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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
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Less common affected area by shagreen patch
a. Lower back - MC
b. Sacral region - MC
c. Upper Back
d. Forehead
c. Upper Back
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pattern of inheritance of TSC
AD
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Tuberous sclerosis complex (TSC) is a genetic disease caused by mutations in what tumor-suppressor gene?
TSC1 or TSC2
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tuberous sclerosis complex affect what organs?
brain, heart, kidneys, lungs, and skin.
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common presentation of TSC during infancy
seizures
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skin findings of patients with TSC
* hypomelanotic macules
* facial angiofibromas
* fibrous cephalic plaques
* shagreen patches,
* ungual fibromas
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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
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AOP of ash-leaf spots
trunk and buttocks
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AOP of confetti skin lesions
legs below the knees or forearms
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AOP of facial angiofibromas
**central face** and are often concentrated in the **alar grooves**
## Footnote
extending symmetrically onto the cheeks and to the nose, nasal opening, and chin, with relative sparing of the upper lip and lateral face
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angiofibromas relatively spare what areas of the face?
upper lip and lateral face
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how many angiofibromas comprise a major feature?
3 or more
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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
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Most common location of shagreen patch
lower back to sacral region
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how many ungual fibromas should be present for it to be classified as a major feature for diagnosis of TSC?
2 or more
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another name for multiple skin tags in tuberous sclerosis complex
Molluscum fibrosum pendulum
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intraoral fibromos are most common on what site?
gingiva
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The first-line treatment of infantile spasms
vigabatrin
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This drug inhibits mTORC1 activity and treats TSC tumors
Sirolimus (rapamycin)
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Lesions characteristic of TSC
* Juvenile-Onset Angiofibromas (≥3)
* Hypomelanotic Macules (≥3)
* Ungual Fibromas (≥2)
* Fibrous Cephalic Plaque
* Shagreen Patch
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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.
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The management of TSC skin tumors has changed with the use of what drug classification?
mTOR inhibitors
## Footnote
Everolimus, Sirolimus
