Phakomatoses

Question 1

NF1

Answer 1

CAFESPOT

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

Question 2

NF2

Answer 2

MSME

Multiple Schwannoma, Meningioma, Ependymoma

Question 3

VON HIPPEL LINDAU

Answer 3

HIPPELR

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

Question 4

Tuberous sclerosis

Answer 4

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)

Question 5

Sturge Weber

Answer 5

CccCCC

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

Question 6

MEN 1

Answer 6

PPP

Pituitary adenoma
Parathyroid hyperplasia/adenoma
Pancreatic endocrine tumours

Question 7

MEN2a

Answer 7

PMP

Phaeochromocytoma
Medullary thyroid cancer
Parathyroid hyperplasia

Question 8

MEN 2b

Answer 8

PMMM

Phaeochromocytoma
Medullary thyroid cancer
Mucosal neuromas
Marfanoid habitus

Question 9

What is CHARGE syndrome?

Answer 9

CHARGE

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

Question 10

What is PHACE syndrome?

Answer 10

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

Question 11

What are the IgG4 diseases?

Answer 11

Orbital pseudotumour
Riedel thyroiditis
Autoimmune pancreatitis
Sclerosing cholangitis
Retroperitoneal fibrosis

Question 12

Birt Hogg Dube?

Answer 12

Cutaneous fibrofolliculomas

Multiple lung cysts and pneumothoraces

Renal tumour - Chromophobe oncocytomas