Neurocutaneous disorders and neoplasms

Question 1

Neurocutaneous syndromes can also be known as

Answer 1

Phakomatoses

Question 2

Characteristics of neurocutaneous syndromes

Answer 2

Neurologic disorder
Skin manifestations
Genetic
Multiple hamartomas (benign tumors) - not true neoplasms.

Question 3

Neurofibramotosis 1 (NF1)

Answer 3

Autosomal dom.
“Elephant’s man disease”
Most common neurocutaneous syndrome. Accounts for 90% of cases.

Marked by neurofibromas- tumor of nerve tissues. May compress tissues nearby.

Affects all NEURAL CREST cells (schwann, melanocytes, chondrocytes, osteoblasts)

Question 4

NF1 systemic symptoms

Answer 4

Mental retardation 30-40%
Seizures possible

Cafe au last spots. Brown tan spots with smooth boarder. often present at birth, found in all at age 2. 6 or more to diagnose. Grow as patient gets older.

Freckling in the armpit during puberty in 80%

Plexiform neurofibromas- can develop at any point along a nerve. Brown, pink, or skin colored. Soft or firm to the touch.

Question 5

NF1 ocular presentation

Answer 5

S shaped lid due to plexiform neuroma.

Iris Lisch nodules- multiple, bilateral, yellow brown nodules on the iris surface. Look like fluff balls. Increase with age!
Specific for NF1 but absence does not exclude NF1.

Optic nerve glioma.
20% of patients, 75% asymptomatic.
Might have APD or decrease in color vision.

Question 6

NF1 eye exam

Answer 6

Pay attention to lids, iris, and ON.
Rule out ON glioma and test ON function.
2+ lisch nodules on the iris
Ask about family history, cafe au last spots, axillary freckles.

Question 7

NF2 “Central neurofibromatosis”

Answer 7

Much less common than NF1.
Mutation affecting the merlin protein on chromosome 22.
Autosomal dominant.

Diagnostic: Bilateral vestibular schwannoma. 85%. aka acoustic neuroma. Schwannoma along vestibular nerve.

Ocular findings: 81% have posterior sub capsular or cortical cataracts.

Skin findings are more subtle than NF1

Question 8

Schwannomatosis (subtype of NF)

Answer 8

Schwannnomas along any nerve other than vestibular nerve bc that is NF2.

Symptoms manifest later in life. 25-30 years.

Question 9

Tuberous Sclerosis Complex/Bourneville’s disease.

Answer 9

Mutation affecting the hamartin protein chromosome 9 or tuberin protein chromosome 16.

Affects signaling pathway and can cause abnormal cell differentiation.

Some genetics, some spontaneous.

Question 10

Tuberous Sclerosis systemic

Answer 10

Can involve any organ
Renal cysts
SEIZURES (80-90%)*****
Autism 33%
mental retardation 50%******

Question 11

Tuberous Sclerosis dermatologic

Answer 11

Adenoma sebaceous of the face
Ash leaf spot- hypopigmented oval lesion.
Shagreen patch (50%) Yellow, rid, or pink elevated nodules. Orange peel texture. Lower back.

Question 12

Tuberous Sclerosis ocular

Answer 12

Retinal hamartomas: translucent, flat in periphery.

Elevated mulberry lesion in posterior pole. Non progressive.

Question 13

Sturge weber syndrome

Answer 13

Not inherited.
Triad of vascular malformations: Face, eye, and brain. Does not affect other organs.

Mutation of GNAQ gene.
Regulates proteins that control blood vessel development.

Hypoxia
Seizures (83%)
Hemiplegia (50%)
Mental retardation

Question 14

Sturge Weber facial hemangioma

Answer 14

Port wine stain along trigeminal dermatome. 70% unilateral.

Question 15

Sturge Weber ocular

Answer 15

Glaucoma (30-70%)
More common when upper eyelid affected.
Check IOP.

Choroidal hemangioma in 40%

Question 16

Von Hippel-Lindau Disease

Answer 16

80% autosomal dominant.
Mutation of VHL gene.

60% Hemangioblastomas of the CNS. Benign vascular tumors. Could occur in retina.
70% renal cell carcinoma.
18% pheochromocytoma of the adrenal gland.
Renal, pancreatic, and epidymis cysts.

Question 17

___% of people with retinal hemangioblastomas have VHL disease
How to tx

Answer 17

25-80%
Multiple are diagnostic for VHL.
Dilated blood vessels leading to and from the blastoma.

Tx with Anti-VEGF or laser

Question 18

Wyburn mason syndrome

Answer 18

Arteriovenous malformation (AVM)
Worm like vessels. More prone to leak.
If see in the eye, there is 30-80% they are in the brain. May cause papilledema. Could cause HA or seizures.

Question 19

White pupil. What could it be?

Answer 19

Retinoblastoma 
Cataract
Persistant fetal vasculature
Coats 
Coloboma of choroid 
Retinal detachment 
Toxocariasis

Question 20

Persistant fetal vasculature

Answer 20

Remnant of the hyaloid system.
Mittendorf dot- on lens.
Bergmeister papilla- remnant on ONH.

Over time, the membrane could push the lens and iris anteriorly. May cause angle closure glaucoma.
Tx by removing lens and fibrovascuar stalk.

Question 21

Coats disease

Answer 21

Leaky vessels that are progressive.
Idiopathic, non-hereditary.
Telangiectatic and aneurysmal retinal vessels associated with sub retinal exudate.

80% unilateral
2/3 cases before 10 years
Male x3 over female.

Tx with cryoablation, laser, or anti VegF

Question 22

Choroidal coloboma.

Systemic is called charge syndrome.

Answer 22

Failure of fetal fissure to close. ALWAYS inferior.
Can develop neovascularization on edge of coloboma.
Cataract, glaucoma, iris coloboma, nystagmus.

NO cure.

Question 23

Toxocariasis

Answer 23

Roundworn toxocara canis. Ingestion of eggs from the soil.
Boys> girls.

Unilateral granuloma.
May see vitritis inflammation.
Use ELISA test to look for antibodies for toxocara.
Tx with steroids.

Question 24

Retinoblastoma

Answer 24

Most common ocular cancer in children.
RB1 gene on Chromosome 12.
Will fill the eye, then periocular tissues then the brain.

White pupil, no red reflex, strabismus.

Work up: Dilated exam and B scan.
Lots of scans, genetic testing, dx stage.
Exam within 1 day by ocular oncologist.

Question 25

Heritable/germinal vs non heritable retinoblastoma

Answer 25

Heritable/germinal: 
33%
Bilateral 
Risk of other cancers
Transmission to offspring. 

non heritable retinoblastoma:
66% of all forms
Unilateral
Not transmitted to offspring.

Question 26

Two types of retinoblastoma presentations

Answer 26

Endophytic- white nodular mass that looks like cottage cheese. Extends into vitreous. May seed.

Exophytic: Grows into sub retinal space. May seed and lead to retinal detachment.

Question 27

Retinoblastoma. What to document.

Answer 27

Number, location, size, RD? Subretinal fluid? Seeding?

Question 28

Horner syndrome

Answer 28

Ptosis, miosis, anhydrosis.

Could be congenital or acquired.

Kids? worry about neuroblastoma or abdom cancer. Often present at birth but not detected until it grows.
33% start in adrenal gland, 25% start in sympathetic ganglia in abdomen. Near spine in chest.

Adults? Worry about lung tumor.

Question 29

Most common malignant extra cranial solid tumor of childhood

Answer 29

Neuroblastoma.
Often present at birth but not detected until it grows.
33% start in adrenal gland, 25% start in sympathetic ganglia in abdomen. Near spine in chest.

Question 30

Horners syndrome JAAPOS

Answer 30

42% congenital.

15% squired. 2 with neuroblastoma. Rare.

Question 31

Most common leukemia in kids and adults

Answer 31

Kids- ALL

Adult- AML

Question 32

Leukemia ocular findings

Answer 32

Roth's spots 
CWS
Venous tortuosity 
CN palsies 
ONH edema 
Uveitis