Neurocutaneous Disorders Flashcards

1
Q

Sturge-Weber Syndrome is a congential, noninherited (sporadic), developmental anomaly of ______________ derivatives due to __________ for an activating mutation in one copy of the _____ gene.

A
  • Neural Crest derivatives
  • Somatic mosaicism
  • GNAQ
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2
Q

Sturge-Weber Syndrome affects what sized blood vessels?

A

Small (capillary sized)

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3
Q

What is the distribution of the nevus flammeus, non-neoplastic birthmark of the face in Sturge-Weber syndrome?

A

CN V1-V2 distribution - port wine stain

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4
Q

Mnemonic for Sturge-Weber Syndrome (encephalotrigeminal angiomatosis)?

A

S - Sporadic, port-wine Stain

T - Tram Track calcifications

U - Unilateral

R - Retardation

G - Glaucoma, GNAQ gene

E - epilepsy

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5
Q

Mutation for Tuberous sclerosis?

A

TSCI/TSC2 on chromosome 16

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6
Q

What is the inheritance pattern for Tuberous sclerosis?

A

Autosomal dominant, variable expression

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7
Q

What are the common findings with Tuberous sclerosis?

A

H - Hamartomas in CNS, skin
A - Angiofibromas
M - Mitral regurgitation
A - Ash-leaf spots
R - Rhabdomyoma
M - Mental Retardation
renal Angiomyolipoma
S - seizures
S - Shagreen patches

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8
Q

Which disorder has an increased incidence of subependymal giant cell astrocytomas and ungual fibromas?

A

Tuberous Sclerosis

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9
Q

What is the mutation in Neurofibromatosis 1 (Von Recklinghausen disease)?

A

NF1, Tumor suppressor gene on chromosome 17

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10
Q

What does NF1 normally code for?

A

Neurofibromin, a negative regulator of RAS

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11
Q

What is the inheritance pattern of NF1?

A

AD, 100% penetrance!

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12
Q

What are the signs of neurofibromatosis 1?

A
  • Cafe-au-lait spots
  • cutaneous neurofibromas
  • optic gliomas
  • pheochromocytomas
  • Lisch nodules
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13
Q

What is the mutation for Neurofibromatosis 2?

A

NF2 tumor suppressor gene on chromosome 22

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14
Q

What are the physical findings for NF2? (AD)

A

Bilateral acoustic schwannomas

Juvenile cataracts

Meningiomas, ependymomas

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15
Q

What is the mutation and inheritance pattern of Von Hippel-Lindau disease?

A

Deletion of VHL gene on chromosome 3p, Autosomal dominant

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16
Q

What disorder is characterized by numerous tumors, benign and malignant

  • Hemangioblastomas in retina, brain stem, cerebellum, spine
  • Angiomatosis: cavernous hemangiomas in skin, mucosa, organs
  • Renal cell carcinomas
  • Pheochromocytomas
A

Von Hippel Lindau disease

17
Q

What are the findings in Won Hippel-Lindau disease?

A
  • Hemangioblastomas in retina, brain stem, cerebellum, spine
  • Angiomatosis: cavernous hemangiomas in skin, mucosa, organs
  • Renal cell carcinomas
  • Pheochromocytomas