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Rheumatology > Neurofibromatosis > Flashcards

Neurofibromatosis Flashcards

1
Q

Presentation

A

> 5 cafe au lait spots
Neurofibromata
Plexiform
Axillary freckling

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2
Q

Genetics

A

Type 1 - AD chromosome 17
Type 2 - AD chromosome 22

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3
Q

Multisystem involvement - type 1

A

Eyes - Lisch nodules, retinal hamartoma
Lungs - pulmonary fibrosis, pneumothorax
Heart - cardiomyopathy
MSK - kyphoscoliosis, pseudoarthrosis,
Kidneys - renal aa stenosis
Endocrine - Phaeochromocytoma

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4
Q

Multisystem involvement type 2

A

Acoustic neuroma
Meningioma
Optic glioma
Ependymoma

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Rheumatology (9 decks)

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