Neurocutaneous disorders Flashcards
1
Q
Sturge-Weber syndrome
A
Activating mutation of GNAQ Mnemonic: STURGE S - Sporadic (non-inherited), Stain (port wine stain = venous malformation) T - Tram track calcifications U - Unilateral R - retardation G - Glaucoma, GNAQ E - epilepsy
2
Q
Tuberous sclerosis
A
Autosomal dominant - imcomplete penetrance, variable expressivity TSC 1 - hamartin TSC 2 - tuberin Increased risk for ependyma astrocytomas Mneumonic: HAMARTOMAS H - Hamartomas - CNS and skin A - Angiofibromas M - Mitral regurgitation A - Ash-leaf spots R - Rhabdomyoma T - TSC 1 and 2 O - autosomal dOminant M - Mental retardation A - renal Angiomyolipoma S - Seizure, Shagreen patches
3
Q
Neurofibromatosis type 1 (von Recklinghausen disease)
A
50% of cases are inherited - autosomal dominant 50% of cases are sporadic Mutation on NF1 tumor suppressor gene on chromosome 17 Cafe au lait spots Lisch nodules - iris hamartomas Cutaneous neurofibromas Optic gliomas Pheochromocytomas
4
Q
von Hippel Lindau disease
A
Hemangioblastomas in retina, brainstem, cerebellum and spine
Angiomatosis
Bilateral renal cell carcinoma
Pheochromocytomas
