Neurocutaneous disorders and neoplasms Flashcards
Neurocutaneous syndromes can also be known as
Phakomatoses
Characteristics of neurocutaneous syndromes
Neurologic disorder
Skin manifestations
Genetic
Multiple hamartomas (benign tumors) - not true neoplasms.
Neurofibramotosis 1 (NF1)
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)
NF1 systemic symptoms
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.
NF1 ocular presentation
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.
NF1 eye exam
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.
NF2 “Central neurofibromatosis”
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
Schwannomatosis (subtype of NF)
Schwannnomas along any nerve other than vestibular nerve bc that is NF2.
Symptoms manifest later in life. 25-30 years.
Tuberous Sclerosis Complex/Bourneville’s disease.
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.
Tuberous Sclerosis systemic
Can involve any organ Renal cysts SEIZURES (80-90%)***** Autism 33% mental retardation 50%******
Tuberous Sclerosis dermatologic
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.
Tuberous Sclerosis ocular
Retinal hamartomas: translucent, flat in periphery.
Elevated mulberry lesion in posterior pole. Non progressive.
Sturge weber syndrome
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
Sturge Weber facial hemangioma
Port wine stain along trigeminal dermatome. 70% unilateral.
Sturge Weber ocular
Glaucoma (30-70%)
More common when upper eyelid affected.
Check IOP.
Choroidal hemangioma in 40%
Von Hippel-Lindau Disease
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.
___% of people with retinal hemangioblastomas have VHL disease
How to tx
25-80%
Multiple are diagnostic for VHL.
Dilated blood vessels leading to and from the blastoma.
Tx with Anti-VEGF or laser
Wyburn mason syndrome
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.
White pupil. What could it be?
Retinoblastoma Cataract Persistant fetal vasculature Coats Coloboma of choroid Retinal detachment Toxocariasis
Persistant fetal vasculature
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.
Coats disease
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
Choroidal coloboma.
Systemic is called charge syndrome.
Failure of fetal fissure to close. ALWAYS inferior.
Can develop neovascularization on edge of coloboma.
Cataract, glaucoma, iris coloboma, nystagmus.
NO cure.
Toxocariasis
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.
Retinoblastoma
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.
