neurocutaneous disorders Flashcards
sturge-weber syndrome: what is affected, what is the biochemical problem
congenital somatic developmental anomaly of neural crest derivatives d/t an activating mutation of GNAQ gene
What are the symptoms of sturge-weber?
stuge-weber affects the small vessels of the face. three main symptoms with different sequelae:
1. port-wine staine in the V1/V2 nerve distribution
2. ipislateral leptomeningeal angioma (epithelial neoplasm): although this tumor is “benign,” it causes seizures and intellectual disability
3. Episcleral hemangioma (benign growth of vascular endothelium): causes increased intraocular pressure and early glaucoma
STURGE: sporatic port wine staine, (tram track Ca2), unilateral, retardation, glaucoma/GNAQ, epilepsy
What is tuberous sclerosis?
causes hamartomas: hamartomas in the CNS and skin, angiofibromas on the face, mitral regurg, ash leaf spots (white spots), cardiac rhabdomyoma, tuberous sclerosis, dOminant, mental retardation, angiomyolipoma, seizures
(HAMARTOMAS is the mnemonic)
incr. incidence of subependymal astrocytomas and ungual fibromas
What are symptoms of neurofibromatosis 1?
cafe au lait spots, Lisch nodules in the eyes, neurofibromas in the skin, optic gliomas, pheochromocytomas.
What causes neurofibromatosis type 1? gene problem,, function, affected cell types
mutated NF1 tumor suppressor gene (a negative regulator of Ras) on chromosome 17. skin tumors are derived from neural crest.
Symptoms of von hippel lindau disease
cavernous hemangiomas in the skin, mucosa, organs, bilateral renal cell carcinomas, hemangioblastoma in the the retina, brainstem, and cerebellum, and pheos
What is the genetic problem in von hippel lindau disease?
autosomal dominant mutation of the VHL tumor suppressor gene on chromosome 3. this results in constitutive expression of HIF, a transcription factor, and activation of angiogenic growth factors
