Neruocutaneous disorders

Question 1

What is the inheritance/genes associated with:

Sturge Weber Syndrome

Answer 1

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)

Question 2

What is the inheritance/genes associated with:

Tuberous Sclerosis

Answer 2

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

Question 3

What is the inheritance/genes associated with:

NF1

Answer 3

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

Question 4

What is the inheritance/genes associated with:

NF2

Answer 4

Mutation of NF2 on chromosome 22

Autosomal dominant

Question 5

What is the inheritance/genes associated with:

VHL

Answer 5

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

Question 6

What is the inheritance/genes associated with:

McCune Albright syndrome

Answer 6

Mosaic mutation affecting G protein signaling

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

Question 7

Name the clinical presentations associated with:

Sturge Weber Syndrome

Answer 7

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

Question 8

Name the clinical presentations associated with:

Tuberous Sclerosis

Answer 8

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)

Question 9

Name the clinical presentations associated with:

NF1

Answer 9

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

Question 10

Name the clinical presentations associated with:

NF2

Answer 10

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

Question 11

Name the clinical presentations associated with:

VHL

Answer 11

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

Question 12

Name the clinical presentations associated with:

McCune Albright Syndrome

Answer 12

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