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FRCR 2a Flashcards > Phakomatoses > Flashcards

Phakomatoses Flashcards

1
Q

NF1

A

CAFESPOT

CAFE AU LAIT SPOTS
ASTROCYTOMA/ANGIOGLIOMAS
FIBROMAS (NEUROFIBROMA)
EYE (IRIS) HAMARTOMAS
SKELETAL DYSPLASIA/SPHENOID WING
PHEOCHROMOCYTOMA
OPTIC TRACT GLIOMA

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2
Q

NF2

A

MSME

Multiple Schwannoma, Meningioma, Ependymoma

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3
Q

VON HIPPEL LINDAU

A

HIPPELR

Haemangioblastoma (CNS)
I (Eye) Haemangioblastomas (Retinal)
Pheochromocytoma
Pancreatic cysts, cystadenoma, pNET
Endolymph sac tumours (ear labyrinth)
Liver cysts
Renal cysts + RCC (Clear Cell)

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4
Q

Tuberous sclerosis

A

HAMARTOMAS

Hamartomas
Angiomyolipomas
Mitral regurgitation
Adenoma sebaceum
Rhabdomyosarcoma (Rhabdomyoma of heart)
Tubors
Oncocytoma of kidney (Bilateral)
Malformation of Chiari
Ash leaf spots
Sub Ependymal Giantcell Astrocytoma (SEGA)

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5
Q

Sturge Weber

A

CccCCC

Curvilinear cortical calcification
Cerebral atrophy
Choroid plexus enlargement
Cutaneous port wine stain

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6
Q

MEN 1

A

PPP

Pituitary adenoma
Parathyroid hyperplasia/adenoma
Pancreatic endocrine tumours

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7
Q

MEN2a

A

PMP

Phaeochromocytoma
Medullary thyroid cancer
Parathyroid hyperplasia

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8
Q

MEN 2b

A

PMMM

Phaeochromocytoma
Medullary thyroid cancer
Mucosal neuromas
Marfanoid habitus

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9
Q

What is CHARGE syndrome?

A

CHARGE

Colobomas
Heart defects
Atresia choanae
Retarded growth
Genital hypoplasia
Ear abnormalities and deafness

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10
Q

What is PHACE syndrome?

A

P - Posterior fossa Dandy Walker
H - Haemangiomas
A - Arterial anomalies
C - Coactation of aorta
E - Eye abnormalities

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11
Q

What are the IgG4 diseases?

A

Orbital pseudotumour
Riedel thyroiditis
Autoimmune pancreatitis
Sclerosing cholangitis
Retroperitoneal fibrosis

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12
Q

Birt Hogg Dube?

A

Multiple lung cysts and pneumothoraces

Renal tumour - Chromophobe oncocytomas

Cutaneous fibrofolliculomas

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FRCR 2a Flashcards (11 decks)

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