Neruocutaneous disorders Flashcards Preview

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Flashcards in Neruocutaneous disorders Deck (12)
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1
Q

What is the inheritance/genes associated with:

Sturge Weber Syndrome

A

Congenital, non-inherited (sporadic), developmental anomaly of neural crest derivatives due to somatic mosaicism for ACTIVATING mutation in one copy of GNAQ
(affects small capillary sized blood vessels)

2
Q

What is the inheritance/genes associated with:

Tuberous Sclerosis

A

TSC1 mutation on Chromosome 9 or TSC2 mutation on Chromosome 16 (tumor suppressor genes)
Autosomal dominant w/ variable expression

3
Q

What is the inheritance/genes associated with:

NF1

A

Mutation in NF1 tumor suppressor gene on chromosome 17
Normally codes for neurofibromin (negative regulator of RAS)
Autosomal Dominant 100% penetrance

4
Q

What is the inheritance/genes associated with:

NF2

A

Mutation of NF2 on chromosome 22

Autosomal dominant

5
Q

What is the inheritance/genes associated with:

VHL

A

Deletion of VHL on chromosome 3p
Autosomal dominant
pVHL ubiquinates hypoxia inducible factor 1a

6
Q

What is the inheritance/genes associated with:

McCune Albright syndrome

A

Mosaic mutation affecting G protein signaling

lethal if it occurs before fertilization but survivable in pts with mosaicism

7
Q

Name the clinical presentations associated with:

Sturge Weber Syndrome

A

Port wine stain of face in CN V1/V2 dist
Ipsilateral leptomeningeal angioma leading to Seizures/Epilepsy
Intellectual disability
Episcleral hemagioma leading to INC IOP and early onset glaucoma
STURGE- Sporadic, Stain, Tram Trac calcifications (opposing gyri), Unilateral, Retard, Glaucoma, GNAQ, Epilepsy

8
Q

Name the clinical presentations associated with:

Tuberous Sclerosis

A
HAMARTOMAS
Hamartomas in CNS and Skin
Angiofibromas
Mitral regurgitation
Ash leaf spots
cardiac Rhabdomyomas
(Tuberus sclerosus)
autosomal dOminant
Mental retardation
renal Angiomyolipoma
Seizures
Shagreen patches
(inc incidence of subependymal giant cell astrocytomas and ungual fibromas)
9
Q

Name the clinical presentations associated with:

NF1

A
Cafe au lait spots
Cutaneous neurofibromas
optic gliomas
pheochromocytomas
lisch nodules (pigmented iris hamartomas)
10
Q

Name the clinical presentations associated with:

NF2

A

Bilateral acoustic schwannomas
Juvenile cataracts
Meningiomas and ependymomas
(affects 2 ears, 2 eyes and 2 parts of brain)

11
Q

Name the clinical presentations associated with:

VHL

A

Characterized by numerous tumors both benign and malignant- HARP
Hemangioblastomas (high vascularity with hyperchromatic nuclei) in: Retina, brain stem, cerebellum, and spine
Angiomatosis (cavernous hemangiomas in skin, mucosa, organs)
Bilateral Renal cell carcinomas
Pheochromocytomas

12
Q

Name the clinical presentations associated with:

McCune Albright Syndrome

A

Unilateral cafe-au-lait spots with ragged edges
Polyostotic fibrous dysplasia (bone replaced by collagen and fibroblasts)
At least one endocrinopathy (precocious puberty)