Neurocutaneous Disorders Flashcards
What disorder has capillary malformations and port wine stains?
Sturge-Weber syndrome
What are the features of Sturge-Weber syndrome?
- Cap malformations: Port-wine stain
- Ipsilateral leptomeningeal angioma w calcifications
- Episcleral hemangioma
- Early-onset glaucoma
What neurocutaneous disordrer is not inherited in an AD pattern?
Sturge-Weber
- Somatic mosaicism
What gene is affected in Sturge-Weber?
Somatic mosaicism of an activating mutation in one copy of the GNAQ gene
What is Sturge-Weber syndrome also known as?
Encephalotrigeminal angiomatosis
What gene mutations cause Tuberous Sclerosis?
- TSC 1
- TSC 2
What chromosome is TSC1 on?
chromosome 9
What chromosome is TSC2 on?
chromosome 16
What protein is coded for by TSC1?
Hemartin
What protein is coded for on TSC2?
Tuberin
What are the symptoms of Tuberous sclerosis?
- Hamartomas in CNS and skin
- Angiofibromas
- Mitral regurg
- Ash-leaf spots
- Cardiac rhabdomyomas
- Intellectual disability
- Renal angiomyolipoma
- Srizures
- Shagreen patches
- Incr incidence of subependymal giant cell astrocytomas and ungual fibromas
What neurocutaneous disorder has 100% penetrance?
Neurofibromatosis type 1
What gene is mutated in Neurofibromatosis type 1
What chromosome is it located on?
- NF1 (tumour suppressor gene)
- Chromosome 17
What does NF1 code for?
Neurofibromin a negative RAS regulator
What are the symptoms of Neurofibromatosis type 1?
- Cafe au lait spots
- Intellectual disability
- Cutaneous neurofibromas
- Lisch nodules (pigmented iris hamartomas)
- Optic gliomas
- Pheochromocytomas
- Seizures / focal neurologic signs (often from meningiomas)
- Bone lesions (sphenoid dysplasia)
What done NF2 code for?
Merlin
What chromosome is NF2 gene located on?
22
What are the symptoms of NF type 2?
- Bilateral vestibular schwannomas
- Juvenile cataracts
- Meningiomas
- Ependymomas
What neurocutaneous disorder contains neurofibromas?
NF1
What gene mutation causes Von Hippel-Lindau disease?
Deletion of VHL gene
What chromosome is the VHL gene located on?
3p
What does VHL do?
Ubiquinates hypoxia-inducible factor 1a
What are the symptoms of VHL disease?
- Hemangioblastomas in brainstem, cerebellum and spine
- Angiomatosis bilateral
- RCC
- Phaeochromocytomas
HARP
What do hemangioblastomas look like on histology?
High vascularity with hyperchromatic nuclei
