Phakomatoses Flashcards
Sturge-Webber (non eye findings)
- leptomeningeal vascular malformations
- central calcifications
- mental retardation
- pheochromocytoma
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)
klippel trenaunay webber
Variant of Sturge weber with cutaneous nevus flammeus, hemangiomas, varicosities, intracranial angiomas, and hemihypertrophy of limbs
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
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
Inheritance pattern of the phakomatoses?
All are AD with incomplete penetrance except:
- Sturge weber (sporadic)
- ataxia telangiectasia (AR)
- wyburn mason (non-hereditary)
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
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)
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)
What is a lisch nodule
Glial or melanocytic iris hamartoma
Which condition gives you pulsating exophthalmos
NF1, absence of sphenoid wing
Which phakomatosis gives you prominent corneal nerves
NF1
Which phakomatoses can give you pheochromocytoma
- Sturge weber
- Von Hippel Lindau
- tuberous sclerosis
- NF2
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