Flashcards in Phakomatoses Deck (9)
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1
What is Neurofibromatosis type 1 or von Recklinghausen disease? Clinically?
Clinical diagnosis (2 or more):
>6 cafe au last spots
two or more neurofibromas
optic nerve glioma
sphenoid wing dysplasia
two or more iris hamartoma
axillary or inguinal freckling
primary relative with NF 1 criteria
Chromosome 17
2
What is Neurofibromatosis type 1 or von Recklinghausen disease? (Pathologically)
Breast : Neurofibromatosis of the breast
Central nervous system:
FASI - focal areas of signal intensity
Optic nerve glioma
Progressive sphenoid dysplasia
Lamboid suture defects
Dural calcification
Moya moya
Buphthalmos
Cutaneous: benign peripheral nerve sheath tumors
Skeletal : kyphoscoliosis
Posterior vertebral body scalloping
Hypoplastic posterior elements
Enlarged neuroforamina
Rib notching
Dural ectasia
Limb hemihypertrophy
Thoracic:
Mediastinal masses
Lung parenchymal disease
Vascular:
Aneurysms
Renal artery stenosis
Coarctation
3
What is Neurofibromatosis type 1 or von Recklinghausen disease? Neoplasms
Pheochromocytoma
Malignant peripheral nerve sheath tumor
Wilms tumor
Rhabdomyosarcoma
Renal angiomyolipoma
Glioma: Juvenile pilocytic astrocytoma, optic nerve glioma, diffuse brainstem glioma, spinal astrocytoma and spinal pilocytic astrocytoma
Carcinoid tumors
Leiomyoma
Leiomyosarcoma
Ganglioma
Leukemia
4
What are the features of Neurofibromatosis type 2? (mnemonic)
M - multiple
I - inherited
S - schwannomas
M - meningiomas
E - ependymomas
Classic - bilateral vestibular schwannomas
5
What is the difference between NF 1 and NF 2?
THESE ARE NOT RELATED
There are no neurofibromas in NF2 - it is a misnomer
6
What are the genetics of NF2?
Long arm of chromosome 22
Autosomal dominant
7
What is the clinical presentation of tuberous sclerosis?
Vogt triad:seizures, mental retardation, adenoma sebaceum
8
What are the genetics of tuberous sclerosis?
Most are sporadic mutations with some autosomal dominant
9
