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Flashcards in Phakomatoses Deck (14):
1

Sturge-Webber (non eye findings)

- leptomeningeal vascular malformations
- central calcifications
- mental retardation
- pheochromocytoma

2

klippel trenaunay webber

Variant of Sturge weber with cutaneous nevus flammeus, hemangiomas, varicosities, intracranial angiomas, and hemihypertrophy of limbs

3

Von Hippel Lindau

AD, incomplete penetrance

Hamartomas: eye, brain, kidney/adrenals

Eye: retinal angioma (fed by dilated vessel). Vessel can leak. Treat the leak, not the lesion. May be multi focal, bilateral.

Brain: CNS tumors (hemangioblastoma of cerebellum, pons, medulla, spinal cord)

Kidney: tumor of kidney, pancreas, liver, adrenals. 25% RCC, 5% pheochromocytoma

4

Tuberous sclerosis

AD or sporadic

Triad: adenoma sebaceum, MR, epilepsy

Astrocytoma of retina or optic nerve (giant drusen)

Facial adenoma sebaceum
Ash leaf spots (fluoresce under woods light)
Shagreen patches
Periungal fibromas

CNS: subependymal hamartomas, MR, Sz

Other: cardiac rhabdomyoma, spontaneous pneumothorax from pleural cysts, renal angiomyolipomas, pheo

5

Inheritance pattern of the phakomatoses?

All are AD with incomplete penetrance except:

- Sturge weber (sporadic)
- ataxia telangiectasia (AR)
- wyburn mason (non-hereditary)

6

Wyburn Mason

Aka racemose hemangiomatosis

- racemose hemangioma of retina (AV malformation with markedly dilated and tortuous shunt vessels)
- may have intraocular Hx or glaucoma
- may have brain AV malformations, of orbit and facial bones, and small facial hemangiomas

7

Ataxia Telangectasia

AR

- prominent, dilated conj vessels. Impaired convergence, nystagmus, oculomotor apraxia

- cutaneous telangiectasia in butterfly pattern
- MR
- cerebellar ataxia (cerebellar atrophy)
- defective T cells and IgA deficiency (infections)
- blood malignancy (leukemia, lymphoma)

8

NF1: 7 diagnostic criteria

Need 2:

- first degree relative
- freckling of intertifinous areas
- 2 lisch nodules
- optic nerve glioma
- 2 neurofibromas or 1 plexiform neurofibroma
- osseous lesion
- 6 cafe au lait spots (5 mm pre-pubescent, 15 mm post pubescent)

9

What is a lisch nodule

Glial or melanocytic iris hamartoma

10

Which condition gives you pulsating exophthalmos

NF1, absence of sphenoid wing

11

Which phakomatosis gives you prominent corneal nerves

NF1

12

Which phakomatoses can give you pheochromocytoma

- Sturge weber
- Von Hippel Lindau
- tuberous sclerosis
- NF2

13

Can you have Lisch nodules in Nf2

No

You have:
- bilateral CPA tumors (acoustic neuroma)
- 1st degree relative with NF2 and either a unilateral acoustic neuroma or 2 of: meningioma, schwannoma, neurofibroma, glioma, PSC cataract

Think about pheo and other malignant tumors

14

Describe Sturge-Webber (eye findings)

Non hereditary

Port wine stain (nevus flammeus)

- dilated conj and episcleral vessels
- cong or juvenile glaucoma (25%, esp if upper lid involved)
- iris heterochromia (iris angiomas)
- cb angiomas
- diffuse cavernous choroidal hemangioma (tomato ketchup)